Noncompaction cardiomyopathy screening: Difference between revisions
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Noncompaction cardiomyopathy is an inheritable disease, and if a family member is affected, consideration should be given to screening other family members. Symptoms may be quite variable in different family members. Recurrence occurs in about 40% of family members. | Noncompaction cardiomyopathy is an inheritable disease, and if a family member is affected, consideration should be given to screening other family members. Symptoms may be quite variable in different family members. Recurrence occurs in about 40% of family members. | ||
==Echocardiography== | |||
* | It is recommended that first degree relatives be screened by transthoracic echocardiography<ref name="pmid15210614">{{cite journal| author=Weiford BC, Subbarao VD, Mulhern KM| title=Noncompaction of the ventricular myocardium. | journal=Circulation | year= 2004 | volume= 109 | issue= 24 | pages= 2965-71 | pmid=15210614 | doi=10.1161/01.CIR.0000132478.60674.D0 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=15210614 }} </ref>. | ||
* | |||
==Genetic Screening== | |||
Some highly specialized centers do offer genetic screening. Several potential genetic abnormalities have been identified: | |||
*The gene that encodes for [[alpha-dystrobrevin]]<ref>Ichida F, Tsubata S, Bowles KR, et al. Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. Circulation. 2001; 103: 1256–1263.</ref>. This is a [[dystrophin-associated protein]] which has been mapped to [[chromosome 18q12]]. The role of this protein is to preserve the structural integrity of the muscle membrane. | |||
*An X-linked genetic defect which involves a mutation in the gene G4.5 (TAZ) of the Xq28 chromosome region (a gene which encodes for [[tafazzin]]), the same region of the chromosome involved in several [[myopathies]] with cardiac involvement are located. These include [[Barth syndrome]]<ref>Bleyl SB, Mumford BR, Brown-Harrison MC, et al. Xq28-linked noncompaction of the ventricular myocardium: prenatal diagnosis and pathologic analysis of affected individuals. Am J Med Genet. 1997; 72:257–265.</ref>, [[Emery-Dreifuss muscular dystrophy]], and [[myotubular myopathy]]. As a result, some patients with NCC may have features of [[Barth syndrome]]. | |||
* Mutations of the [[ryanodine receptor 2 gene]] ([[RyR2]]) as has been seen in patients with [[arrhythmogenic right ventricular dysplasia]]. | |||
* Deletions of the [[FKBP12 gene]] result in noncompaction in the mouse<ref>Rigopoulos A, Rizos IK, Aggeli C, et al. Isolated left ventricular noncompaction: an unclassified cardiomyopathy with severe prognosis in adults. Cardiology. 2002;98:25–32.</ref>. | |||
*Knockout of the [[Peg1]] gene has been associated with NCC in the mouse <ref>Rigopoulos A, Rizos IK, Aggeli C, et al. Isolated left ventricular noncompaction: an unclassified cardiomyopathy with severe prognosis in adults. Cardiology. 2002; 98: 25–32.</ref>. | |||
* [[LMNA]] mutations | |||
*Abnormalities of transcription factors such as [[NKX2.5]] and [[TBX5]]. | |||
*Abnormalities of 11p15 as suggested in a [[GWAS]] analysis. | |||
*22q11 deletion | |||
*Distal 5q deletion involving the [[CSX]] gene <ref>Pauli RM, Scheib-Wixted S, Cripe L, et al. Ventricular noncompaction and distal chromosome 5q deletion. Am J Med Genet. 1999;85:419–423.</ref> | |||
==References== | ==References== | ||
Latest revision as of 15:17, 7 August 2011
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Noncompaction Cardiomyopathy Microchapters |
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Pathophysiology |
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Differentiating Noncompaction Cardiomyopathy from other Diseases |
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Diagnosis |
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Treatment |
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Noncompaction cardiomyopathy screening On the Web |
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Risk calculators and risk factors for Noncompaction cardiomyopathy screening |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Overview
Noncompaction cardiomyopathy is an inheritable disease, and if a family member is affected, consideration should be given to screening other family members. Symptoms may be quite variable in different family members. Recurrence occurs in about 40% of family members.
Echocardiography
It is recommended that first degree relatives be screened by transthoracic echocardiography[1].
Genetic Screening
Some highly specialized centers do offer genetic screening. Several potential genetic abnormalities have been identified:
- The gene that encodes for alpha-dystrobrevin[2]. This is a dystrophin-associated protein which has been mapped to chromosome 18q12. The role of this protein is to preserve the structural integrity of the muscle membrane.
- An X-linked genetic defect which involves a mutation in the gene G4.5 (TAZ) of the Xq28 chromosome region (a gene which encodes for tafazzin), the same region of the chromosome involved in several myopathies with cardiac involvement are located. These include Barth syndrome[3], Emery-Dreifuss muscular dystrophy, and myotubular myopathy. As a result, some patients with NCC may have features of Barth syndrome.
- Mutations of the ryanodine receptor 2 gene (RyR2) as has been seen in patients with arrhythmogenic right ventricular dysplasia.
- Deletions of the FKBP12 gene result in noncompaction in the mouse[4].
- Knockout of the Peg1 gene has been associated with NCC in the mouse [5].
- LMNA mutations
- Abnormalities of transcription factors such as NKX2.5 and TBX5.
- Abnormalities of 11p15 as suggested in a GWAS analysis.
- 22q11 deletion
- Distal 5q deletion involving the CSX gene [6]
References
- ↑ Weiford BC, Subbarao VD, Mulhern KM (2004). "Noncompaction of the ventricular myocardium". Circulation. 109 (24): 2965–71. doi:10.1161/01.CIR.0000132478.60674.D0. PMID 15210614.
- ↑ Ichida F, Tsubata S, Bowles KR, et al. Novel gene mutations in patients with left ventricular noncompaction or Barth syndrome. Circulation. 2001; 103: 1256–1263.
- ↑ Bleyl SB, Mumford BR, Brown-Harrison MC, et al. Xq28-linked noncompaction of the ventricular myocardium: prenatal diagnosis and pathologic analysis of affected individuals. Am J Med Genet. 1997; 72:257–265.
- ↑ Rigopoulos A, Rizos IK, Aggeli C, et al. Isolated left ventricular noncompaction: an unclassified cardiomyopathy with severe prognosis in adults. Cardiology. 2002;98:25–32.
- ↑ Rigopoulos A, Rizos IK, Aggeli C, et al. Isolated left ventricular noncompaction: an unclassified cardiomyopathy with severe prognosis in adults. Cardiology. 2002; 98: 25–32.
- ↑ Pauli RM, Scheib-Wixted S, Cripe L, et al. Ventricular noncompaction and distal chromosome 5q deletion. Am J Med Genet. 1999;85:419–423.