Hypertrophic cardiomyopathy screening: Difference between revisions
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__NOTOC__ | |||
{{Hypertrophic cardiomyopathy}} | {{Hypertrophic cardiomyopathy}} | ||
'''Editor-In-Chief:''' [[C. Michael Gibson, M.S., M.D.]] [mailto: | '''Editor-In-Chief:''' [[C. Michael Gibson, M.S., M.D.]] [mailto:charlesmichaelgibson@gmail.com]; {{AOEIC}} {{LG}} {{Soroush}} | ||
==Overview== | ==Overview== | ||
Genetic testing is the diagnostic study of choice to definitively diagnose hypertrophic cardiomyopathy. While definitive, these techniques can be expensive and can be difficult to access. If the mutation has already been identified in other family members, it is fairly efficient to test for that isolated mutation. | Genetic testing is the diagnostic study of choice to definitively diagnose hypertrophic cardiomyopathy. While definitive, these techniques can be expensive and can be difficult to access. If the mutation has already been identified in other family members, it is fairly efficient to test for that isolated [[mutation]]. Once HCM has been identified in a family, immediate testing of all family members will help to identify those at risk. | ||
==Screening Methods if Genetic Testing is Not Available== | ==Screening Methods if Genetic Testing is Not Available == | ||
Absent the availability of genetic testing, clinical screening should be conducted using the history, physical exam, the electrocardiogram and the echocardiogram in adolescent patients aged 12 to 18 who are first degree relatives of patients with a confirmed diagnosis of hypertrophic cardiomyopathy. Because HCM can have a delayed age of onset, individuals over the age of 18 with an affected first degree relative should have screening every 5 years. Unless the child is engaged in extremely competitive sports or has an aggressive family history of HCM with premature death, screening is generally not recommended in children under the age of 12. | Absent the availability of genetic testing, clinical screening should be conducted using the history, [[Physical examination|physical exam]], the [[electrocardiogram]] and the [[Echocardiography|echocardiogram]] in [[Adolescence|adolescent]] patients aged 12 to 18 who are first degree relatives of patients with a confirmed [[diagnosis]] of hypertrophic [[cardiomyopathy]]. Because HCM can have a delayed age of onset, individuals over the age of 18 with an affected first degree relative should have screening every 5 years. Unless the child is engaged in extremely competitive sports or has an aggressive [[family history]] of HCM with premature death, screening is generally not recommended in children under the age of 12. | ||
==Screening of Competitive Athletes for Hypertrophic Cardiomyopathy== | ==Screening of Competitive Athletes for Hypertrophic Cardiomyopathy== | ||
| Line 13: | Line 14: | ||
====Family History==== | ====Family History==== | ||
The AHA/ACC guidelines recommend that a family history should be | The AHA/ACC guidelines recommend that a [[family history]] should be obtained in athletes to ascertain if there is a history of [[Sudden cardiac death|sudden death]] or if HCM is present in any family members. | ||
====Physical Examination==== | ====Physical Examination==== | ||
| Line 19: | Line 20: | ||
====Yield of Aggressive Testing: The Italian Experience==== | ====Yield of Aggressive Testing: The Italian Experience==== | ||
*In Italy, all competitive athletes are required to undergo pre-participation screening for the presence of HCM. | *In Italy, all competitive athletes are required to undergo pre-participation [[Screening (medicine)|screening]] for the presence of HCM. | ||
*This screening consists of: | *This [[Screening (medicine)|screening]] consists of: | ||
* | :*A 12-lead [[The electrocardiogram|ECG]] | ||
:*A general and cardiovascular [[physical examination]], including [[blood pressure]] measurements | |||
:*A [[family history]] | |||
*In a study done in Italy over a 9-year period (1990-1998), 41 of the 4450 athletes screened on echocardiography showed [[LV]] | *Over 3 million competitive athletes are evaluated each year, and athletes judged to be free of [[cardiovascular disease]] receive a certificate enabling them to participate in competitive athletics. | ||
*In a study done in Italy over a 9-year period (1990-1998), 41 of the 4450 athletes screened on echocardiography showed [[LV hypertrophy]], with an increased wall thicknesses. Only four athletes demonstrated a maximal [[Left ventricle|LV wall thickness]] of 13 mm or more. Thus, the yield of [[Echocardiography|echocardiographic]] [[Screening (medicine)|screening]] appears to be low. | |||
==Follow-Up of Patients with diagnosed HOCM== | ==Follow-Up of Patients with diagnosed HOCM== | ||
These patients are re-evaluated every 12 to 18 months. | These patients are re-evaluated every 12 to 18 months. | ||
<ref name=" | == 2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines<ref name="pmid33215931">{{cite journal| author=Ommen SR, Mital S, Burke MA, Day SM, Deswal A, Elliott P | display-authors=etal| title=2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines. | journal=Circulation | year= 2020 | volume= 142 | issue= 25 | pages= e558-e631 | pmid=33215931 | doi=10.1161/CIR.0000000000000937 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=33215931 }}</ref> == | ||
=== Recommendations for Genetics and Family Screening Referenced studies that support the recommendations are summarized in the Online Data Supplement === | |||
{| class="wikitable" | |||
|- | |||
| colspan="1" style="text-align:center; background:LightGreen" | [[ACC AHA guidelines classification scheme#Classification of Recommendations|Class I]] | |||
|- | |||
| bgcolor="LightGreen" |1. In patients with HCM, evaluation of familial inheritance, including a 3-generation family history, is recommended as part of the initial assessment.''([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: B-NR]])'' | |||
2. In patients with HCM, genetic testing is beneficial to elucidate the genetic basis to facilitate the identification of family members at risk for developing HCM (cascade testing)''([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: B-NR]])'' | |||
3. In patients with an atypical clinical presentation of HCM or when another genetic condition is suspected to be the cause, a work-up including genetic testing for HCM and other genetic causes of unexplained cardiac hypertrophy (“HCM phenocopies”) is recommended''([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: B-NR]])'' | |||
4. In patients with HCM who choose to undergo genetic testing, pre- and posttest genetic counseling by an expert in the genetics of cardio-vascular disease is recommended so that risks, benefits, results, and their clinical significance can be reviewed and discussed with the patient in a shared decision-making process.''([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: B-NR]])'' | |||
5. When performing genetic testing in an HCM proband, the initial tier of genes tested should include genes with strong evidence to be disease-causing in HCM''([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: B-NR]])'' | |||
6. In first-degree relatives of patients with HCM, both clinical screening (ECG and 2D echocardiogram) and cascade genetic testing (when a pathogenic/likely pathogenic variant has been identified in the proband) should be offered.''([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: B-NR]])'' | |||
7. In families where a sudden unexplained death has occurred with a postmortem diagnosis of HCM, postmortem genetic testing is beneficial to facilitate cascade genetic testing and clinical screening in first-degree relatives.''([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: B-NR]])'' | |||
8. In patients with HCM who have undergone genetic testing, serial reevaluation of the clinical significance of the variant(s) identified is recommended to assess for variant reclassification, which may impact diagnosis and cascade genetic testing in family members''([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: B-NR]])'' | |||
9. In affected families with HCM, preconception and prenatal reproductive and genetic counseling should be offered''([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: B-NR]])'' | |||
|} | |||
{| class="wikitable" | |||
|- | |||
| colspan="1" style="text-align:center; background:LemonChiffon" |[[ACC AHA guidelines classification scheme#Classification of Recommendations|Class IIb]] | |||
|- | |||
| bgcolor="LemonChiffon" |10. In patients with HCM, the usefulness of genetic testing in the assessment of risk of SCD is uncertain''([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: B-NR]])'' | |||
1. In patients with HCM who harbor a variant of uncertain significance, the usefulness of clinical genetic testing of phenotype-negative relatives for the purpose of variant reclassification is uncertain.''([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: B-NR]])'' | |||
|} | |||
=== Recommendations for Individuals Who Are Genotype-Positive, Phenotype-Negative Referenced studies that support the recommendations are summarized in the Online Data Supplement === | |||
{| class="wikitable" | |||
|- | |||
| colspan="1" style="text-align:center; background:LightGreen" | [[ACC AHA guidelines classification scheme#Classification of Recommendations|Class I]] | |||
|- | |||
| bgcolor="LightGreen" |1. In individuals who are genotype-positive, phenotype-negative for HCM, serial clinical assessment, electrocardiography, and cardiac imaging are recommended at periodic intervals depending on age (every 1 to 2 years in children and adolescents, and every 3 to 5 years in adults) and change in clinical status1–5(Figure 1 and Figure 2, Table 6)''([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: B-NR]])'' | |||
|} | |||
{| class="wikitable" | |||
|- | |||
| colspan="1" style="text-align:center; background:LemonChiffon" |[[ACC AHA guidelines classification scheme#Classification of Recommendations|Class IIa]] | |||
|- | |||
| bgcolor="LemonChiffon" |2. In individuals who are genotype-positive, phenotype-negative for HCM, participation in competitive athletics of any intensity is reasonable''([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: C-LD]])'' | |||
|} | |||
==2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy (DO NOT EDIT)<ref name="pmid22075469">{{cite journal |author=Gersh BJ, Maron BJ, Bonow RO, Dearani JA, Fifer MA, Link MS, Naidu SS, Nishimura RA, Ommen SR, Rakowski H, Seidman CE, Towbin JA, Udelson JE, Yancy CW |title=2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy A Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines Developed in Collaboration With the American Association for Thoracic Surgery, American Society of Echocardiography, American Society of Nuclear Cardiology, Heart Failure Society of America, Heart Rhythm Society, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons |journal=[[Journal of the American College of Cardiology]] |volume=58 |issue=25 |pages=e212–60 |year=2011 |month=December |pmid=22075469 |doi=10.1016/j.jacc.2011.06.011 |url=http://linkinghub.elsevier.com/retrieve/pii/S0735-1097(11)02275-3 |accessdate=2011-12-19}}</ref>== | |||
===Genetic Testing Strategies/Family Screening (DO NOT EDIT) <ref name="pmid22075469">{{cite journal |author=Gersh BJ, Maron BJ, Bonow RO, Dearani JA, Fifer MA, Link MS, Naidu SS, Nishimura RA, Ommen SR, Rakowski H, Seidman CE, Towbin JA, Udelson JE, Yancy CW |title=2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy A Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines Developed in Collaboration With the American Association for Thoracic Surgery, American Society of Echocardiography, American Society of Nuclear Cardiology, Heart Failure Society of America, Heart Rhythm Society, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons |journal=[[Journal of the American College of Cardiology]] |volume=58 |issue=25 |pages=e212–60 |year=2011 |month=December |pmid=22075469 |doi=10.1016/j.jacc.2011.06.011 |url=http://linkinghub.elsevier.com/retrieve/pii/S0735-1097(11)02275-3 |accessdate=2011-12-19}}</ref>=== | |||
{| class="wikitable" | |||
|- | |||
| colspan="1" style="text-align:center; background:LightGreen"| [[ACC AHA guidelines classification scheme#Classification of Recommendations|Class I]] | |||
|- | |||
| bgcolor="LightGreen"|<nowiki>''</nowiki>'''1.''' Evaluation of familial inheritance and genetic counseling is recommended as part of the assessment of patients with [[HOCM|HCM]].<ref name="pmid12081993">{{cite journal |author=Ho CY, Sweitzer NK, McDonough B, Maron BJ, Casey SA, Seidman JG, Seidman CE, Solomon SD |title=Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy |journal=[[Circulation]] |volume=105 |issue=25 |pages=2992–7 |year=2002 |month=June |pmid=12081993 |doi= |url=http://circ.ahajournals.org/cgi/pmidlookup?view=long&pmid=12081993 |accessdate=2011-12-21}}</ref><ref name="pmid15673802">{{cite journal |author=Arad M, Maron BJ, Gorham JM, Johnson WH, Saul JP, Perez-Atayde AR, Spirito P, Wright GB, Kanter RJ, Seidman CE, Seidman JG |title=Glycogen storage diseases presenting as hypertrophic cardiomyopathy |journal=[[The New England Journal of Medicine]] |volume=352 |issue=4 |pages=362–72 |year=2005 |month=January |pmid=15673802 |doi=10.1056/NEJMoa033349 |url=http://dx.doi.org/10.1056/NEJMoa033349 |accessdate=2011-12-21}}</ref><ref name="pmid18403758">{{cite journal |author=Morita H, Rehm HL, Menesses A, McDonough B, Roberts AE, Kucherlapati R, Towbin JA, Seidman JG, Seidman CE |title=Shared genetic causes of cardiac hypertrophy in children and adults |journal=[[The New England Journal of Medicine]] |volume=358 |issue=18 |pages=1899–908 |year=2008 |month=May |pmid=18403758 |pmc=2752150 |doi=10.1056/NEJMoa075463 |url=http://dx.doi.org/10.1056/NEJMoa075463 |accessdate=2011-12-21}}</ref><ref name="pmid9562578">{{cite journal |author=Niimura H, Bachinski LL, Sangwatanaroj S, Watkins H, Chudley AE, McKenna W, Kristinsson A, Roberts R, Sole M, Maron BJ, Seidman JG, Seidman CE |title=Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy |journal=[[The New England Journal of Medicine]] |volume=338 |issue=18 |pages=1248–57 |year=1998 |month=April |pmid=9562578 |doi=10.1056/NEJM199804303381802 |url=http://dx.doi.org/10.1056/NEJM199804303381802 |accessdate=2011-12-21}}</ref><ref name="pmid12473556">{{cite journal |author=Van Driest SL, Ackerman MJ, Ommen SR, Shakur R, Will ML, Nishimura RA, Tajik AJ, Gersh BJ |title=Prevalence and severity of "benign" mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy |journal=[[Circulation]] |volume=106 |issue=24 |pages=3085–90 |year=2002 |month=December |pmid=12473556 |doi= |url=http://circ.ahajournals.org/cgi/pmidlookup?view=long&pmid=12473556 |accessdate=2011-12-21}}</ref><ref name="pmid15358028">{{cite journal |author=Van Driest SL, Jaeger MA, Ommen SR, Will ML, Gersh BJ, Tajik AJ, Ackerman MJ |title=Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy |journal=[[Journal of the American College of Cardiology]] |volume=44 |issue=3 |pages=602–10 |year=2004 |month=August |pmid=15358028 |doi=10.1016/j.jacc.2004.04.039 |url=http://linkinghub.elsevier.com/retrieve/pii/S0735109704009568 |accessdate=2011-12-21}}</ref> ''([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: B]])''<nowiki>''</nowiki> | |||
|- | |||
{{ | | bgcolor="LightGreen"|<nowiki>''</nowiki>'''2.''' Patients who undergo genetic testing should also undergo counseling by someone knowledgeable in the genetics of cardiovascular disease so that results and their clinical significance can be appropriately reviewed with the patient.<ref name="pmid19533783">{{cite journal |author=Christiaans I, van Langen IM, Birnie E, Bonsel GJ, Wilde AA, Smets EM |title=Genetic counseling and cardiac care in predictively tested hypertrophic cardiomyopathy mutation carriers: the patients' perspective |journal=[[American Journal of Medical Genetics. Part a]] |volume=149A |issue=7 |pages=1444–51 |year=2009 |month=July |pmid=19533783 |doi=10.1002/ajmg.a.32915 |url=http://dx.doi.org/10.1002/ajmg.a.32915 |accessdate=2011-12-21}}</ref><ref name="pmid9355576">{{cite journal |author=Michie S, French D, Allanson A, Bobrow M, Marteau TM |title=Information recall in genetic counselling: a pilot study of its assessment |journal=[[Patient Education and Counseling]] |volume=32 |issue=1-2 |pages=93–100 |year=1997 |pmid=9355576 |doi= |url=http://linkinghub.elsevier.com/retrieve/pii/S0738-3991(97)00068-2 |accessdate=2011-12-21}}</ref><ref name="pmid9923946">{{cite journal |author=Michie S, Allanson A, Armstrong D, Weinman J, Bobrow M, Marteau TM |title=Objectives of genetic counselling: differing views of purchasers, providers and users |journal=[[Journal of Public Health Medicine]] |volume=20 |issue=4 |pages=404–8 |year=1998 |month=December |pmid=9923946 |doi= |url=http://jpubhealth.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=9923946 |accessdate=2011-12-21}}</ref><ref name="pmid15383518">{{cite journal |author=Offit K, Groeger E, Turner S, Wadsworth EA, Weiser MA |title=The "duty to warn" a patient's family members about hereditary disease risks |journal=[[JAMA : the Journal of the American Medical Association]] |volume=292 |issue=12 |pages=1469–73 |year=2004 |month=September |pmid=15383518 |doi=10.1001/jama.292.12.1469 |url=http://jama.ama-assn.org/cgi/pmidlookup?view=long&pmid=15383518 |accessdate=2011-12-21}}</ref><ref name="pmid19253387">{{cite journal |author=Christiaans I, van Langen IM, Birnie E, Bonsel GJ, Wilde AA, Smets EM |title=Quality of life and psychological distress in hypertrophic cardiomyopathy mutation carriers: a cross-sectional cohort study |journal=[[American Journal of Medical Genetics. Part a]] |volume=149A |issue=4 |pages=602–12 |year=2009 |month=February |pmid=19253387 |doi=10.1002/ajmg.a.32710 |url=http://dx.doi.org/10.1002/ajmg.a.32710 |accessdate=2011-12-21}}</ref> ''([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: B]])''<nowiki>''</nowiki> | ||
|- | |||
''' | | bgcolor="LightGreen"|<nowiki>''</nowiki>'''3.''' Screening (clinical, with or without genetic testing) is recommended in first-degree relatives of patients with [[HOCM|HCM]].<ref name="pmid12081993">{{cite journal |author=Ho CY, Sweitzer NK, McDonough B, Maron BJ, Casey SA, Seidman JG, Seidman CE, Solomon SD |title=Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy |journal=[[Circulation]] |volume=105 |issue=25 |pages=2992–7 |year=2002 |month=June |pmid=12081993 |doi= |url=http://circ.ahajournals.org/cgi/pmidlookup?view=long&pmid=12081993 |accessdate=2011-12-21}}</ref><ref name="pmid15673802">{{cite journal |author=Arad M, Maron BJ, Gorham JM, Johnson WH, Saul JP, Perez-Atayde AR, Spirito P, Wright GB, Kanter RJ, Seidman CE, Seidman JG |title=Glycogen storage diseases presenting as hypertrophic cardiomyopathy |journal=[[The New England Journal of Medicine]] |volume=352 |issue=4 |pages=362–72 |year=2005 |month=January |pmid=15673802 |doi=10.1056/NEJMoa033349 |url=http://dx.doi.org/10.1056/NEJMoa033349 |accessdate=2011-12-21}}</ref><ref name="pmid18403758">{{cite journal |author=Morita H, Rehm HL, Menesses A, McDonough B, Roberts AE, Kucherlapati R, Towbin JA, Seidman JG, Seidman CE |title=Shared genetic causes of cardiac hypertrophy in children and adults |journal=[[The New England Journal of Medicine]] |volume=358 |issue=18 |pages=1899–908 |year=2008 |month=May |pmid=18403758 |pmc=2752150 |doi=10.1056/NEJMoa075463 |url=http://dx.doi.org/10.1056/NEJMoa075463 |accessdate=2011-12-21}}</ref><ref name="pmid9562578">{{cite journal |author=Niimura H, Bachinski LL, Sangwatanaroj S, Watkins H, Chudley AE, McKenna W, Kristinsson A, Roberts R, Sole M, Maron BJ, Seidman JG, Seidman CE |title=Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy |journal=[[The New England Journal of Medicine]] |volume=338 |issue=18 |pages=1248–57 |year=1998 |month=April |pmid=9562578 |doi=10.1056/NEJM199804303381802 |url=http://dx.doi.org/10.1056/NEJM199804303381802 |accessdate=2011-12-21}}</ref><ref name="pmid15358028">{{cite journal |author=Van Driest SL, Jaeger MA, Ommen SR, Will ML, Gersh BJ, Tajik AJ, Ackerman MJ |title=Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy |journal=[[Journal of the American College of Cardiology]] |volume=44 |issue=3 |pages=602–10 |year=2004 |month=August |pmid=15358028 |doi=10.1016/j.jacc.2004.04.039 |url=http://linkinghub.elsevier.com/retrieve/pii/S0735109704009568 |accessdate=2011-12-21}}</ref><ref name="pmid18409188">{{cite journal |author=Fokstuen S, Lyle R, Munoz A, Gehrig C, Lerch R, Perrot A, Osterziel KJ, Geier C, Beghetti M, Mach F, Sztajzel J, Sigwart U, Antonarakis SE, Blouin JL |title=A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy |journal=[[Human Mutation]] |volume=29 |issue=6 |pages=879–85 |year=2008 |month=June |pmid=18409188 |doi=10.1002/humu.20749 |url=http://dx.doi.org/10.1002/humu.20749 |accessdate=2011-12-21}}</ref><ref name="pmid18533079">{{cite journal |author=Olivotto I, Girolami F, Ackerman MJ, Nistri S, Bos JM, Zachara E, Ommen SR, Theis JL, Vaubel RA, Re F, Armentano C, Poggesi C, Torricelli F, Cecchi F |title=Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy |journal=[[Mayo Clinic Proceedings. Mayo Clinic]] |volume=83 |issue=6 |pages=630–8 |year=2008 |month=June |pmid=18533079 |doi= |url=http://www.mayoclinicproceedings.com/cgi/pmidlookup?view=long&pmid=18533079 |accessdate=2011-12-21}}</ref> ''([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: B]])''<nowiki>''</nowiki> | ||
|- | |||
''' | | bgcolor="LightGreen"|<nowiki>''</nowiki>'''4.''' [[Genetic testing]] for [[HOCM|HCM]] and other genetic causes of unexplained cardiac [[hypertrophy]] is recommended in patients with an atypical clinical presentation of [[HOCM|HCM]] or when another genetic condition is suspected to be the cause.<ref name="pmid11499718">{{cite journal |author=Maron BJ, Niimura H, Casey SA, Soper MK, Wright GB, Seidman JG, Seidman CE |title=Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations |journal=[[Journal of the American College of Cardiology]] |volume=38 |issue=2 |pages=315–21 |year=2001 |month=August |pmid=11499718 |doi= |url=http://linkinghub.elsevier.com/retrieve/pii/S0735109701013869 |accessdate=2011-12-21}}</ref><ref name="pmid1944483">{{cite journal |author=Rosenzweig A, Watkins H, Hwang DS, Miri M, McKenna W, Traill TA, Seidman JG, Seidman CE |title=Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes |journal=[[The New England Journal of Medicine]] |volume=325 |issue=25 |pages=1753–60 |year=1991 |month=December |pmid=1944483 |doi=10.1056/NEJM199112193252501 |url=http://dx.doi.org/10.1056/NEJM199112193252501 |accessdate=2011-12-21}}</ref><ref name="pmid16773563">{{cite journal |author=Spada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, Sakuraba H, Ponzone A, Desnick RJ |title=High incidence of later-onset fabry disease revealed by newborn screening |journal=[[American Journal of Human Genetics]] |volume=79 |issue=1 |pages=31–40 |year=2006 |month=July |pmid=16773563 |pmc=1474133 |doi=10.1086/504601 |url=http://linkinghub.elsevier.com/retrieve/pii/S0002-9297(07)60021-4 |accessdate=2011-12-21}}</ref> ''([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: B]])''<nowiki>''</nowiki> | ||
|} | |||
{| class="wikitable" | |||
|- | |||
== | | colspan="1" style="text-align:center; background:LemonChiffon"|[[ACC AHA guidelines classification scheme#Classification of Recommendations|Class IIa]] | ||
|- | |||
| bgcolor="LemonChiffon"|<nowiki>''</nowiki>'''1.''' Genetic testing is reasonable in the index patient to facilitate the identification of first-degree family members at risk for developing [[HOCM|HCM]].<ref name="pmid12081993">{{cite journal |author=Ho CY, Sweitzer NK, McDonough B, Maron BJ, Casey SA, Seidman JG, Seidman CE, Solomon SD |title=Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy |journal=[[Circulation]] |volume=105 |issue=25 |pages=2992–7 |year=2002 |month=June |pmid=12081993 |doi= |url=http://circ.ahajournals.org/cgi/pmidlookup?view=long&pmid=12081993 |accessdate=2011-12-21}}</ref><ref name="pmid12473556">{{cite journal |author=Van Driest SL, Ackerman MJ, Ommen SR, Shakur R, Will ML, Nishimura RA, Tajik AJ, Gersh BJ |title=Prevalence and severity of "benign" mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy |journal=[[Circulation]] |volume=106 |issue=24 |pages=3085–90 |year=2002 |month=December |pmid=12473556 |doi= |url=http://circ.ahajournals.org/cgi/pmidlookup?view=long&pmid=12473556 |accessdate=2011-12-21}}</ref><ref name="pmid18409188">{{cite journal |author=Fokstuen S, Lyle R, Munoz A, Gehrig C, Lerch R, Perrot A, Osterziel KJ, Geier C, Beghetti M, Mach F, Sztajzel J, Sigwart U, Antonarakis SE, Blouin JL |title=A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy |journal=[[Human Mutation]] |volume=29 |issue=6 |pages=879–85 |year=2008 |month=June |pmid=18409188 |doi=10.1002/humu.20749 |url=http://dx.doi.org/10.1002/humu.20749 |accessdate=2011-12-21}}</ref> ''([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: B]])''<nowiki>''</nowiki> | |||
|} | |||
{| class="wikitable" | |||
|- | |||
== | | colspan="1" style="text-align:center; background:LemonChiffon"|[[ACC AHA guidelines classification scheme#Classification of Recommendations|Class IIb]] | ||
|- | |||
| bgcolor="LemonChiffon"|<nowiki>''</nowiki>'''1.''' The usefulness of genetic testing in the assessment of risk of [[sudden cardiac death|SCD]] in [[HOCM|HCM]] is uncertain.<ref name="pmid9060892">{{cite journal |author=Moolman JC, Corfield VA, Posen B, Ngumbela K, Seidman C, Brink PA, Watkins H |title=Sudden death due to troponin T mutations |journal=[[Journal of the American College of Cardiology]] |volume=29 |issue=3 |pages=549–55 |year=1997 |month=March |pmid=9060892 |doi= |url=http://linkinghub.elsevier.com/retrieve/pii/S073510979600530X |accessdate=2011-12-21}}</ref><ref name="pmid12975413">{{cite journal |author=Woo A, Rakowski H, Liew JC, Zhao MS, Liew CC, Parker TG, Zeller M, Wigle ED, Sole MJ |title=Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis |journal=[[Heart (British Cardiac Society)]] |volume=89 |issue=10 |pages=1179–85 |year=2003 |month=October |pmid=12975413 |pmc=1767874 |doi= |url=http://heart.bmj.com/cgi/pmidlookup?view=long&pmid=12975413 |accessdate=2011-12-21}}</ref> ''([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: B]])''<nowiki>''</nowiki> | |||
|} | |||
'''1.''' | {| class="wikitable" | ||
|- | |||
| colspan="1" style="text-align:center; background:LightCoral"|[[ACC AHA guidelines classification scheme#Classification of Recommendations|Class III]] (No Benefit) | |||
|- | |||
| bgcolor="LightCoral"|<nowiki>''</nowiki>'''1.''' Genetic testing is not indicated in relatives when the index patient does not have a definitive pathogenic mutation.<ref name="pmid12081993">{{cite journal |author=Ho CY, Sweitzer NK, McDonough B, Maron BJ, Casey SA, Seidman JG, Seidman CE, Solomon SD |title=Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy |journal=[[Circulation]] |volume=105 |issue=25 |pages=2992–7 |year=2002 |month=June |pmid=12081993 |doi= |url=http://circ.ahajournals.org/cgi/pmidlookup?view=long&pmid=12081993 |accessdate=2011-12-21}}</ref><ref name="pmid15673802">{{cite journal |author=Arad M, Maron BJ, Gorham JM, Johnson WH, Saul JP, Perez-Atayde AR, Spirito P, Wright GB, Kanter RJ, Seidman CE, Seidman JG |title=Glycogen storage diseases presenting as hypertrophic cardiomyopathy |journal=[[The New England Journal of Medicine]] |volume=352 |issue=4 |pages=362–72 |year=2005 |month=January |pmid=15673802 |doi=10.1056/NEJMoa033349 |url=http://dx.doi.org/10.1056/NEJMoa033349 |accessdate=2011-12-21}}</ref><ref name="pmid18403758">{{cite journal |author=Morita H, Rehm HL, Menesses A, McDonough B, Roberts AE, Kucherlapati R, Towbin JA, Seidman JG, Seidman CE |title=Shared genetic causes of cardiac hypertrophy in children and adults |journal=[[The New England Journal of Medicine]] |volume=358 |issue=18 |pages=1899–908 |year=2008 |month=May |pmid=18403758 |pmc=2752150 |doi=10.1056/NEJMoa075463 |url=http://dx.doi.org/10.1056/NEJMoa075463 |accessdate=2011-12-21}}</ref><ref name="pmid9562578">{{cite journal |author=Niimura H, Bachinski LL, Sangwatanaroj S, Watkins H, Chudley AE, McKenna W, Kristinsson A, Roberts R, Sole M, Maron BJ, Seidman JG, Seidman CE |title=Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy |journal=[[The New England Journal of Medicine]] |volume=338 |issue=18 |pages=1248–57 |year=1998 |month=April |pmid=9562578 |doi=10.1056/NEJM199804303381802 |url=http://dx.doi.org/10.1056/NEJM199804303381802 |accessdate=2011-12-21}}</ref><ref name="pmid12473556">{{cite journal |author=Van Driest SL, Ackerman MJ, Ommen SR, Shakur R, Will ML, Nishimura RA, Tajik AJ, Gersh BJ |title=Prevalence and severity of "benign" mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy |journal=[[Circulation]] |volume=106 |issue=24 |pages=3085–90 |year=2002 |month=December |pmid=12473556 |doi= |url=http://circ.ahajournals.org/cgi/pmidlookup?view=long&pmid=12473556 |accessdate=2011-12-21}}</ref><ref name="pmid15358028">{{cite journal |author=Van Driest SL, Jaeger MA, Ommen SR, Will ML, Gersh BJ, Tajik AJ, Ackerman MJ |title=Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy |journal=[[Journal of the American College of Cardiology]] |volume=44 |issue=3 |pages=602–10 |year=2004 |month=August |pmid=15358028 |doi=10.1016/j.jacc.2004.04.039 |url=http://linkinghub.elsevier.com/retrieve/pii/S0735109704009568 |accessdate=2011-12-21}}</ref><ref name="pmid11034944">{{cite journal |author=Ho CY, Lever HM, DeSanctis R, Farver CF, Seidman JG, Seidman CE |title=Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy |journal=[[Circulation]] |volume=102 |issue=16 |pages=1950–5 |year=2000 |month=October |pmid=11034944 |doi= |url=http://circ.ahajournals.org/cgi/pmidlookup?view=long&pmid=11034944 |accessdate=2011-12-21}}</ref> ''([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: B]])''<nowiki>''</nowiki> | |||
|- | |||
| bgcolor="LightCoral"|<nowiki>''</nowiki>'''2.''' Ongoing clinical screening is not indicated in genotype-negative relatives in families with [[HOCM|HCM]].<ref name="pmid11034944">{{cite journal |author=Ho CY, Lever HM, DeSanctis R, Farver CF, Seidman JG, Seidman CE |title=Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy |journal=[[Circulation]] |volume=102 |issue=16 |pages=1950–5 |year=2000 |month=October |pmid=11034944 |doi= |url=http://circ.ahajournals.org/cgi/pmidlookup?view=long&pmid=11034944 |accessdate=2011-12-21}}</ref><ref name="pmid16199542">{{cite journal |author=Ingles J, Doolan A, Chiu C, Seidman J, Seidman C, Semsarian C |title=Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling |journal=[[Journal of Medical Genetics]] |volume=42 |issue=10 |pages=e59 |year=2005 |month=October |pmid=16199542 |pmc=1735926 |doi=10.1136/jmg.2005.033886 |url=http://jmg.bmj.com/cgi/pmidlookup?view=long&pmid=16199542 |accessdate=2011-12-21}}</ref><ref name="pmid15519027">{{cite journal |author=Van Driest SL, Vasile VC, Ommen SR, Will ML, Tajik AJ, Gersh BJ, Ackerman MJ |title=Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy |journal=[[Journal of the American College of Cardiology]] |volume=44 |issue=9 |pages=1903–10 |year=2004 |month=November |pmid=15519027 |doi=10.1016/j.jacc.2004.07.045 |url=http://linkinghub.elsevier.com/retrieve/pii/S0735-1097(04)01614-6 |accessdate=2011-12-21}}</ref><ref name="pmid9544842">{{cite journal |author=Jeschke B, Uhl K, Weist B, Schröder D, Meitinger T, Döhlemann C, Vosberg HP |title=A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated beta-myosin heavy chain genes |journal=[[Human Genetics]] |volume=102 |issue=3 |pages=299–304 |year=1998 |month=March |pmid=9544842 |doi= |url=http://link.springer.de/link/service/journals/00439/bibs/8102003/81020299.htm |accessdate=2011-12-21}}</ref> ''([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: B]])''<nowiki>''</nowiki> | |||
|} | |||
===Genotype-Positive/Phenotype-Negative Patients (DO NOT EDIT) <ref name="pmid22075469">{{cite journal |author=Gersh BJ, Maron BJ, Bonow RO, Dearani JA, Fifer MA, Link MS, Naidu SS, Nishimura RA, Ommen SR, Rakowski H, Seidman CE, Towbin JA, Udelson JE, Yancy CW |title=2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy A Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines Developed in Collaboration With the American Association for Thoracic Surgery, American Society of Echocardiography, American Society of Nuclear Cardiology, Heart Failure Society of America, Heart Rhythm Society, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons |journal=[[Journal of the American College of Cardiology]] |volume=58 |issue=25 |pages=e212–60 |year=2011 |month=December |pmid=22075469 |doi=10.1016/j.jacc.2011.06.011 |url=http://linkinghub.elsevier.com/retrieve/pii/S0735-1097(11)02275-3 |accessdate=2011-12-19}}</ref>=== | |||
''' | {| class="wikitable" | ||
|- | |||
| colspan="1" style="text-align:center; background:LightGreen"|[[ACC AHA guidelines classification scheme#Classification of Recommendations|Class I]] | |||
|- | |||
| bgcolor="LightGreen"|<nowiki>"</nowiki>'''1.''' In individuals with pathogenic mutations who do not express the [[HOCM|HCM]] phenotype, it is recommended to perform serial [[Hypertrophic cardiomyopathy diagnostic testing#Electrocardiogram|electrocardiogram (ECG)]], [[Hypertrophic cardiomyopathy diagnostic testing#Echocardiography|transthoracic echocardiogram (TTE)]], and [[Hypertrophic cardiomyopathy physical examination|clinical assessment]] at periodic intervals (12 to 18 months in children and adolescents and about every 5 years in adults), based on the patient’s age and change in clinical status.<ref name="pmid19539541">{{cite journal |author=Christiaans I, Lekanne dit Deprez RH, van Langen IM, Wilde AA |title=Ventricular fibrillation in MYH7-related hypertrophic cardiomyopathy before onset of ventricular hypertrophy |journal=[[Heart Rhythm : the Official Journal of the Heart Rhythm Society]] |volume=6 |issue=9 |pages=1366–9 |year=2009 |month=September |pmid=19539541 |doi=10.1016/j.hrthm.2009.04.029 |url=http://linkinghub.elsevier.com/retrieve/pii/S1547-5271(09)00464-0 |accessdate=2011-12-22}}</ref><ref name="pmid19035361">{{cite journal |author=Andersen PS, Havndrup O, Hougs L, Sørensen KM, Jensen M, Larsen LA, Hedley P, Thomsen AR, Moolman-Smook J, Christiansen M, Bundgaard H |title=Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives |journal=[[Human Mutation]] |volume=30 |issue=3 |pages=363–70 |year=2009 |month=March |pmid=19035361 |doi=10.1002/humu.20862 |url=http://dx.doi.org/10.1002/humu.20862 |accessdate=2011-12-22}}</ref><ref name="pmid20019025">{{cite journal |author=Christiaans I, Birnie E, van Langen IM, van Spaendonck-Zwarts KY, van Tintelen JP, van den Berg MP, Atsma DE, Helderman-van den Enden AT, Pinto YM, Hermans-van Ast JF, Bonsel GJ, Wilde AA |title=The yield of risk stratification for sudden cardiac death in hypertrophic cardiomyopathy myosin-binding protein C gene mutation carriers: focus on predictive screening |journal=[[European Heart Journal]] |volume=31 |issue=7 |pages=842–8 |year=2010 |month=April |pmid=20019025 |doi=10.1093/eurheartj/ehp539 |url=http://eurheartj.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=20019025 |accessdate=2011-12-22}}</ref><ref name="pmid19666645">{{cite journal |author=Michels M, Soliman OI, Phefferkorn J, Hoedemaekers YM, Kofflard MJ, Dooijes D, Majoor-Krakauer D, Ten Cate FJ |title=Disease penetrance and risk stratification for sudden cardiac death in asymptomatic hypertrophic cardiomyopathy mutation carriers |journal=[[European Heart Journal]] |volume=30 |issue=21 |pages=2593–8 |year=2009 |month=November |pmid=19666645 |doi=10.1093/eurheartj/ehp306 |url=http://eurheartj.oxfordjournals.org/cgi/pmidlookup?view=long&pmid=19666645 |accessdate=2011-12-22}}</ref> ''([[ACC AHA guidelines classification scheme#Level of Evidence|Level of Evidence: B]])''<nowiki>"</nowiki> | |||
|} | |||
== | ==Sources== | ||
[http://content.onlinejacc.org/cgi/reprint/58/25/e212.pdf 2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy] <ref name="pmid22075468">{{cite journal |author=Gersh BJ, Maron BJ, Bonow RO, Dearani JA, Fifer MA, Link MS, Naidu SS, Nishimura RA, Ommen SR, Rakowski H, Seidman CE, Towbin JA, Udelson JE, Yancy CW |title=2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy: Executive Summary A Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines Developed in Collaboration With the American Association for Thoracic Surgery, American Society of Echocardiography, American Society of Nuclear Cardiology, Heart Failure Society of America, Heart Rhythm Society, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons |journal=[[Journal of the American College of Cardiology]] |volume=58 |issue=25 |pages=2703–38 |year=2011 |month=December |pmid=22075468 |doi=10.1016/j.jacc.2011.10.825 |url=http://linkinghub.elsevier.com/retrieve/pii/S0735-1097(11)04383-X |accessdate=2011-12-19}}</ref><ref name="pmid22075469">{{cite journal |author=Gersh BJ, Maron BJ, Bonow RO, Dearani JA, Fifer MA, Link MS, Naidu SS, Nishimura RA, Ommen SR, Rakowski H, Seidman CE, Towbin JA, Udelson JE, Yancy CW |title=2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy A Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines Developed in Collaboration With the American Association for Thoracic Surgery, American Society of Echocardiography, American Society of Nuclear Cardiology, Heart Failure Society of America, Heart Rhythm Society, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons |journal=[[Journal of the American College of Cardiology]] |volume=58 |issue=25 |pages=e212–60 |year=2011 |month=December |pmid=22075469 |doi=10.1016/j.jacc.2011.06.011 |url=http://linkinghub.elsevier.com/retrieve/pii/S0735-1097(11)02275-3 |accessdate=2011-12-19}}</ref> | [http://content.onlinejacc.org/cgi/reprint/58/25/e212.pdf 2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy] <ref name="pmid22075468">{{cite journal |author=Gersh BJ, Maron BJ, Bonow RO, Dearani JA, Fifer MA, Link MS, Naidu SS, Nishimura RA, Ommen SR, Rakowski H, Seidman CE, Towbin JA, Udelson JE, Yancy CW |title=2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy: Executive Summary A Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines Developed in Collaboration With the American Association for Thoracic Surgery, American Society of Echocardiography, American Society of Nuclear Cardiology, Heart Failure Society of America, Heart Rhythm Society, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons |journal=[[Journal of the American College of Cardiology]] |volume=58 |issue=25 |pages=2703–38 |year=2011 |month=December |pmid=22075468 |doi=10.1016/j.jacc.2011.10.825 |url=http://linkinghub.elsevier.com/retrieve/pii/S0735-1097(11)04383-X |accessdate=2011-12-19}}</ref><ref name="pmid22075469">{{cite journal |author=Gersh BJ, Maron BJ, Bonow RO, Dearani JA, Fifer MA, Link MS, Naidu SS, Nishimura RA, Ommen SR, Rakowski H, Seidman CE, Towbin JA, Udelson JE, Yancy CW |title=2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy A Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines Developed in Collaboration With the American Association for Thoracic Surgery, American Society of Echocardiography, American Society of Nuclear Cardiology, Heart Failure Society of America, Heart Rhythm Society, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons |journal=[[Journal of the American College of Cardiology]] |volume=58 |issue=25 |pages=e212–60 |year=2011 |month=December |pmid=22075469 |doi=10.1016/j.jacc.2011.06.011 |url=http://linkinghub.elsevier.com/retrieve/pii/S0735-1097(11)02275-3 |accessdate=2011-12-19}}</ref> | ||
Latest revision as of 21:32, 10 December 2022
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Hypertrophic Cardiomyopathy Microchapters |
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Differentiating Hypertrophic Cardiomyopathy from other Diseases |
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Diagnosis |
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Treatment |
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Case Studies |
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Hypertrophic cardiomyopathy screening On the Web |
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Directions to Hospitals Treating Hypertrophic cardiomyopathy |
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Risk calculators and risk factors for Hypertrophic cardiomyopathy screening |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-In-Chief: Lakshmi Gopalakrishnan, M.B.B.S. [2] Soroush Seifirad, M.D.[3]
Overview
Genetic testing is the diagnostic study of choice to definitively diagnose hypertrophic cardiomyopathy. While definitive, these techniques can be expensive and can be difficult to access. If the mutation has already been identified in other family members, it is fairly efficient to test for that isolated mutation. Once HCM has been identified in a family, immediate testing of all family members will help to identify those at risk.
Screening Methods if Genetic Testing is Not Available
Absent the availability of genetic testing, clinical screening should be conducted using the history, physical exam, the electrocardiogram and the echocardiogram in adolescent patients aged 12 to 18 who are first degree relatives of patients with a confirmed diagnosis of hypertrophic cardiomyopathy. Because HCM can have a delayed age of onset, individuals over the age of 18 with an affected first degree relative should have screening every 5 years. Unless the child is engaged in extremely competitive sports or has an aggressive family history of HCM with premature death, screening is generally not recommended in children under the age of 12.
Screening of Competitive Athletes for Hypertrophic Cardiomyopathy
Screening for hypertrophic cardiomyopathy(HCM) is a controversial subject in the medical community, as HCM is the leading cause of sudden death in athletes.
Family History
The AHA/ACC guidelines recommend that a family history should be obtained in athletes to ascertain if there is a history of sudden death or if HCM is present in any family members.
Physical Examination
If the family history is positive, then a physical examination and echocardiography should be performed.
Yield of Aggressive Testing: The Italian Experience
- In Italy, all competitive athletes are required to undergo pre-participation screening for the presence of HCM.
- This screening consists of:
- A 12-lead ECG
- A general and cardiovascular physical examination, including blood pressure measurements
- A family history
- Over 3 million competitive athletes are evaluated each year, and athletes judged to be free of cardiovascular disease receive a certificate enabling them to participate in competitive athletics.
- In a study done in Italy over a 9-year period (1990-1998), 41 of the 4450 athletes screened on echocardiography showed LV hypertrophy, with an increased wall thicknesses. Only four athletes demonstrated a maximal LV wall thickness of 13 mm or more. Thus, the yield of echocardiographic screening appears to be low.
Follow-Up of Patients with diagnosed HOCM
These patients are re-evaluated every 12 to 18 months.
2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines[1]
Recommendations for Genetics and Family Screening Referenced studies that support the recommendations are summarized in the Online Data Supplement
| Class I |
| 1. In patients with HCM, evaluation of familial inheritance, including a 3-generation family history, is recommended as part of the initial assessment.(Level of Evidence: B-NR)
2. In patients with HCM, genetic testing is beneficial to elucidate the genetic basis to facilitate the identification of family members at risk for developing HCM (cascade testing)(Level of Evidence: B-NR) 3. In patients with an atypical clinical presentation of HCM or when another genetic condition is suspected to be the cause, a work-up including genetic testing for HCM and other genetic causes of unexplained cardiac hypertrophy (“HCM phenocopies”) is recommended(Level of Evidence: B-NR) 4. In patients with HCM who choose to undergo genetic testing, pre- and posttest genetic counseling by an expert in the genetics of cardio-vascular disease is recommended so that risks, benefits, results, and their clinical significance can be reviewed and discussed with the patient in a shared decision-making process.(Level of Evidence: B-NR) 5. When performing genetic testing in an HCM proband, the initial tier of genes tested should include genes with strong evidence to be disease-causing in HCM(Level of Evidence: B-NR) 6. In first-degree relatives of patients with HCM, both clinical screening (ECG and 2D echocardiogram) and cascade genetic testing (when a pathogenic/likely pathogenic variant has been identified in the proband) should be offered.(Level of Evidence: B-NR) 7. In families where a sudden unexplained death has occurred with a postmortem diagnosis of HCM, postmortem genetic testing is beneficial to facilitate cascade genetic testing and clinical screening in first-degree relatives.(Level of Evidence: B-NR) 8. In patients with HCM who have undergone genetic testing, serial reevaluation of the clinical significance of the variant(s) identified is recommended to assess for variant reclassification, which may impact diagnosis and cascade genetic testing in family members(Level of Evidence: B-NR) 9. In affected families with HCM, preconception and prenatal reproductive and genetic counseling should be offered(Level of Evidence: B-NR) |
| Class IIb |
| 10. In patients with HCM, the usefulness of genetic testing in the assessment of risk of SCD is uncertain(Level of Evidence: B-NR)
1. In patients with HCM who harbor a variant of uncertain significance, the usefulness of clinical genetic testing of phenotype-negative relatives for the purpose of variant reclassification is uncertain.(Level of Evidence: B-NR) |
Recommendations for Individuals Who Are Genotype-Positive, Phenotype-Negative Referenced studies that support the recommendations are summarized in the Online Data Supplement
| Class I |
| 1. In individuals who are genotype-positive, phenotype-negative for HCM, serial clinical assessment, electrocardiography, and cardiac imaging are recommended at periodic intervals depending on age (every 1 to 2 years in children and adolescents, and every 3 to 5 years in adults) and change in clinical status1–5(Figure 1 and Figure 2, Table 6)(Level of Evidence: B-NR) |
| Class IIa |
| 2. In individuals who are genotype-positive, phenotype-negative for HCM, participation in competitive athletics of any intensity is reasonable(Level of Evidence: C-LD) |
2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy (DO NOT EDIT)[2]
Genetic Testing Strategies/Family Screening (DO NOT EDIT) [2]
| Class I |
| ''1. Evaluation of familial inheritance and genetic counseling is recommended as part of the assessment of patients with HCM.[3][4][5][6][7][8] (Level of Evidence: B)'' |
| ''2. Patients who undergo genetic testing should also undergo counseling by someone knowledgeable in the genetics of cardiovascular disease so that results and their clinical significance can be appropriately reviewed with the patient.[9][10][11][12][13] (Level of Evidence: B)'' |
| ''3. Screening (clinical, with or without genetic testing) is recommended in first-degree relatives of patients with HCM.[3][4][5][6][8][14][15] (Level of Evidence: B)'' |
| ''4. Genetic testing for HCM and other genetic causes of unexplained cardiac hypertrophy is recommended in patients with an atypical clinical presentation of HCM or when another genetic condition is suspected to be the cause.[16][17][18] (Level of Evidence: B)'' |
| Class IIa |
| ''1. Genetic testing is reasonable in the index patient to facilitate the identification of first-degree family members at risk for developing HCM.[3][7][14] (Level of Evidence: B)'' |
| Class IIb |
| ''1. The usefulness of genetic testing in the assessment of risk of SCD in HCM is uncertain.[19][20] (Level of Evidence: B)'' |
| Class III (No Benefit) |
| ''1. Genetic testing is not indicated in relatives when the index patient does not have a definitive pathogenic mutation.[3][4][5][6][7][8][21] (Level of Evidence: B)'' |
| ''2. Ongoing clinical screening is not indicated in genotype-negative relatives in families with HCM.[21][22][23][24] (Level of Evidence: B)'' |
Genotype-Positive/Phenotype-Negative Patients (DO NOT EDIT) [2]
| Class I |
| "1. In individuals with pathogenic mutations who do not express the HCM phenotype, it is recommended to perform serial electrocardiogram (ECG), transthoracic echocardiogram (TTE), and clinical assessment at periodic intervals (12 to 18 months in children and adolescents and about every 5 years in adults), based on the patient’s age and change in clinical status.[25][26][27][28] (Level of Evidence: B)" |
Sources
2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy [29][2]
References
- ↑ Ommen SR, Mital S, Burke MA, Day SM, Deswal A, Elliott P; et al. (2020). "2020 AHA/ACC Guideline for the Diagnosis and Treatment of Patients With Hypertrophic Cardiomyopathy: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines". Circulation. 142 (25): e558–e631. doi:10.1161/CIR.0000000000000937. PMID 33215931 Check
|pmid=value (help). - ↑ 2.0 2.1 2.2 2.3 Gersh BJ, Maron BJ, Bonow RO, Dearani JA, Fifer MA, Link MS, Naidu SS, Nishimura RA, Ommen SR, Rakowski H, Seidman CE, Towbin JA, Udelson JE, Yancy CW (2011). "2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy A Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines Developed in Collaboration With the American Association for Thoracic Surgery, American Society of Echocardiography, American Society of Nuclear Cardiology, Heart Failure Society of America, Heart Rhythm Society, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons". Journal of the American College of Cardiology. 58 (25): e212–60. doi:10.1016/j.jacc.2011.06.011. PMID 22075469. Retrieved 2011-12-19. Unknown parameter
|month=ignored (help) - ↑ 3.0 3.1 3.2 3.3 Ho CY, Sweitzer NK, McDonough B, Maron BJ, Casey SA, Seidman JG, Seidman CE, Solomon SD (2002). "Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy". Circulation. 105 (25): 2992–7. PMID 12081993. Retrieved 2011-12-21. Unknown parameter
|month=ignored (help) - ↑ 4.0 4.1 4.2 Arad M, Maron BJ, Gorham JM, Johnson WH, Saul JP, Perez-Atayde AR, Spirito P, Wright GB, Kanter RJ, Seidman CE, Seidman JG (2005). "Glycogen storage diseases presenting as hypertrophic cardiomyopathy". The New England Journal of Medicine. 352 (4): 362–72. doi:10.1056/NEJMoa033349. PMID 15673802. Retrieved 2011-12-21. Unknown parameter
|month=ignored (help) - ↑ 5.0 5.1 5.2 Morita H, Rehm HL, Menesses A, McDonough B, Roberts AE, Kucherlapati R, Towbin JA, Seidman JG, Seidman CE (2008). "Shared genetic causes of cardiac hypertrophy in children and adults". The New England Journal of Medicine. 358 (18): 1899–908. doi:10.1056/NEJMoa075463. PMC 2752150. PMID 18403758. Retrieved 2011-12-21. Unknown parameter
|month=ignored (help) - ↑ 6.0 6.1 6.2 Niimura H, Bachinski LL, Sangwatanaroj S, Watkins H, Chudley AE, McKenna W, Kristinsson A, Roberts R, Sole M, Maron BJ, Seidman JG, Seidman CE (1998). "Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy". The New England Journal of Medicine. 338 (18): 1248–57. doi:10.1056/NEJM199804303381802. PMID 9562578. Retrieved 2011-12-21. Unknown parameter
|month=ignored (help) - ↑ 7.0 7.1 7.2 Van Driest SL, Ackerman MJ, Ommen SR, Shakur R, Will ML, Nishimura RA, Tajik AJ, Gersh BJ (2002). "Prevalence and severity of "benign" mutations in the beta-myosin heavy chain, cardiac troponin T, and alpha-tropomyosin genes in hypertrophic cardiomyopathy". Circulation. 106 (24): 3085–90. PMID 12473556. Retrieved 2011-12-21. Unknown parameter
|month=ignored (help) - ↑ 8.0 8.1 8.2 Van Driest SL, Jaeger MA, Ommen SR, Will ML, Gersh BJ, Tajik AJ, Ackerman MJ (2004). "Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy". Journal of the American College of Cardiology. 44 (3): 602–10. doi:10.1016/j.jacc.2004.04.039. PMID 15358028. Retrieved 2011-12-21. Unknown parameter
|month=ignored (help) - ↑ Christiaans I, van Langen IM, Birnie E, Bonsel GJ, Wilde AA, Smets EM (2009). "Genetic counseling and cardiac care in predictively tested hypertrophic cardiomyopathy mutation carriers: the patients' perspective". American Journal of Medical Genetics. Part a. 149A (7): 1444–51. doi:10.1002/ajmg.a.32915. PMID 19533783. Retrieved 2011-12-21. Unknown parameter
|month=ignored (help) - ↑ Michie S, French D, Allanson A, Bobrow M, Marteau TM (1997). "Information recall in genetic counselling: a pilot study of its assessment". Patient Education and Counseling. 32 (1–2): 93–100. PMID 9355576. Retrieved 2011-12-21.
- ↑ Michie S, Allanson A, Armstrong D, Weinman J, Bobrow M, Marteau TM (1998). "Objectives of genetic counselling: differing views of purchasers, providers and users". Journal of Public Health Medicine. 20 (4): 404–8. PMID 9923946. Retrieved 2011-12-21. Unknown parameter
|month=ignored (help) - ↑ Offit K, Groeger E, Turner S, Wadsworth EA, Weiser MA (2004). "The "duty to warn" a patient's family members about hereditary disease risks". JAMA : the Journal of the American Medical Association. 292 (12): 1469–73. doi:10.1001/jama.292.12.1469. PMID 15383518. Retrieved 2011-12-21. Unknown parameter
|month=ignored (help) - ↑ Christiaans I, van Langen IM, Birnie E, Bonsel GJ, Wilde AA, Smets EM (2009). "Quality of life and psychological distress in hypertrophic cardiomyopathy mutation carriers: a cross-sectional cohort study". American Journal of Medical Genetics. Part a. 149A (4): 602–12. doi:10.1002/ajmg.a.32710. PMID 19253387. Retrieved 2011-12-21. Unknown parameter
|month=ignored (help) - ↑ 14.0 14.1 Fokstuen S, Lyle R, Munoz A, Gehrig C, Lerch R, Perrot A, Osterziel KJ, Geier C, Beghetti M, Mach F, Sztajzel J, Sigwart U, Antonarakis SE, Blouin JL (2008). "A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy". Human Mutation. 29 (6): 879–85. doi:10.1002/humu.20749. PMID 18409188. Retrieved 2011-12-21. Unknown parameter
|month=ignored (help) - ↑ Olivotto I, Girolami F, Ackerman MJ, Nistri S, Bos JM, Zachara E, Ommen SR, Theis JL, Vaubel RA, Re F, Armentano C, Poggesi C, Torricelli F, Cecchi F (2008). "Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy". Mayo Clinic Proceedings. Mayo Clinic. 83 (6): 630–8. PMID 18533079. Retrieved 2011-12-21. Unknown parameter
|month=ignored (help) - ↑ Maron BJ, Niimura H, Casey SA, Soper MK, Wright GB, Seidman JG, Seidman CE (2001). "Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations". Journal of the American College of Cardiology. 38 (2): 315–21. PMID 11499718. Retrieved 2011-12-21. Unknown parameter
|month=ignored (help) - ↑ Rosenzweig A, Watkins H, Hwang DS, Miri M, McKenna W, Traill TA, Seidman JG, Seidman CE (1991). "Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes". The New England Journal of Medicine. 325 (25): 1753–60. doi:10.1056/NEJM199112193252501. PMID 1944483. Retrieved 2011-12-21. Unknown parameter
|month=ignored (help) - ↑ Spada M, Pagliardini S, Yasuda M, Tukel T, Thiagarajan G, Sakuraba H, Ponzone A, Desnick RJ (2006). "High incidence of later-onset fabry disease revealed by newborn screening". American Journal of Human Genetics. 79 (1): 31–40. doi:10.1086/504601. PMC 1474133. PMID 16773563. Retrieved 2011-12-21. Unknown parameter
|month=ignored (help) - ↑ Moolman JC, Corfield VA, Posen B, Ngumbela K, Seidman C, Brink PA, Watkins H (1997). "Sudden death due to troponin T mutations". Journal of the American College of Cardiology. 29 (3): 549–55. PMID 9060892. Retrieved 2011-12-21. Unknown parameter
|month=ignored (help) - ↑ Woo A, Rakowski H, Liew JC, Zhao MS, Liew CC, Parker TG, Zeller M, Wigle ED, Sole MJ (2003). "Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis". Heart (British Cardiac Society). 89 (10): 1179–85. PMC 1767874. PMID 12975413. Retrieved 2011-12-21. Unknown parameter
|month=ignored (help) - ↑ 21.0 21.1 Ho CY, Lever HM, DeSanctis R, Farver CF, Seidman JG, Seidman CE (2000). "Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy". Circulation. 102 (16): 1950–5. PMID 11034944. Retrieved 2011-12-21. Unknown parameter
|month=ignored (help) - ↑ Ingles J, Doolan A, Chiu C, Seidman J, Seidman C, Semsarian C (2005). "Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling". Journal of Medical Genetics. 42 (10): e59. doi:10.1136/jmg.2005.033886. PMC 1735926. PMID 16199542. Retrieved 2011-12-21. Unknown parameter
|month=ignored (help) - ↑ Van Driest SL, Vasile VC, Ommen SR, Will ML, Tajik AJ, Gersh BJ, Ackerman MJ (2004). "Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy". Journal of the American College of Cardiology. 44 (9): 1903–10. doi:10.1016/j.jacc.2004.07.045. PMID 15519027. Retrieved 2011-12-21. Unknown parameter
|month=ignored (help) - ↑ Jeschke B, Uhl K, Weist B, Schröder D, Meitinger T, Döhlemann C, Vosberg HP (1998). "A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated beta-myosin heavy chain genes". Human Genetics. 102 (3): 299–304. PMID 9544842. Retrieved 2011-12-21. Unknown parameter
|month=ignored (help) - ↑ Christiaans I, Lekanne dit Deprez RH, van Langen IM, Wilde AA (2009). "Ventricular fibrillation in MYH7-related hypertrophic cardiomyopathy before onset of ventricular hypertrophy". Heart Rhythm : the Official Journal of the Heart Rhythm Society. 6 (9): 1366–9. doi:10.1016/j.hrthm.2009.04.029. PMID 19539541. Retrieved 2011-12-22. Unknown parameter
|month=ignored (help) - ↑ Andersen PS, Havndrup O, Hougs L, Sørensen KM, Jensen M, Larsen LA, Hedley P, Thomsen AR, Moolman-Smook J, Christiansen M, Bundgaard H (2009). "Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives". Human Mutation. 30 (3): 363–70. doi:10.1002/humu.20862. PMID 19035361. Retrieved 2011-12-22. Unknown parameter
|month=ignored (help) - ↑ Christiaans I, Birnie E, van Langen IM, van Spaendonck-Zwarts KY, van Tintelen JP, van den Berg MP, Atsma DE, Helderman-van den Enden AT, Pinto YM, Hermans-van Ast JF, Bonsel GJ, Wilde AA (2010). "The yield of risk stratification for sudden cardiac death in hypertrophic cardiomyopathy myosin-binding protein C gene mutation carriers: focus on predictive screening". European Heart Journal. 31 (7): 842–8. doi:10.1093/eurheartj/ehp539. PMID 20019025. Retrieved 2011-12-22. Unknown parameter
|month=ignored (help) - ↑ Michels M, Soliman OI, Phefferkorn J, Hoedemaekers YM, Kofflard MJ, Dooijes D, Majoor-Krakauer D, Ten Cate FJ (2009). "Disease penetrance and risk stratification for sudden cardiac death in asymptomatic hypertrophic cardiomyopathy mutation carriers". European Heart Journal. 30 (21): 2593–8. doi:10.1093/eurheartj/ehp306. PMID 19666645. Retrieved 2011-12-22. Unknown parameter
|month=ignored (help) - ↑ Gersh BJ, Maron BJ, Bonow RO, Dearani JA, Fifer MA, Link MS, Naidu SS, Nishimura RA, Ommen SR, Rakowski H, Seidman CE, Towbin JA, Udelson JE, Yancy CW (2011). "2011 ACCF/AHA Guideline for the Diagnosis and Treatment of Hypertrophic Cardiomyopathy: Executive Summary A Report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines Developed in Collaboration With the American Association for Thoracic Surgery, American Society of Echocardiography, American Society of Nuclear Cardiology, Heart Failure Society of America, Heart Rhythm Society, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons". Journal of the American College of Cardiology. 58 (25): 2703–38. doi:10.1016/j.jacc.2011.10.825. PMID 22075468. Retrieved 2011-12-19. Unknown parameter
|month=ignored (help)