Noonan syndrome management and follow-up: Difference between revisions
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A mutlidisciplinary team is often needed in the management of Noonan syndrome. A system-based approach is usually adopted and recommendations are based on the severity of disease manifestations. | A mutlidisciplinary team is often needed in the management of Noonan syndrome. A system-based approach is usually adopted and recommendations are based on the severity of disease manifestations. | ||
===Cardiovascular | ===Cardiovascular=== | ||
* Patients with Noonan syndrome require lifetime cardiac follow-up. After initial evaluation including a focused cardiac physical exam, [[echocardiography]], and [[electrocardiography]], follow up is based on work-up findings. If initial work-up is unremarkable, a follow up is recommended every 5 years. <ref name="pmid23312968">{{cite journal| author=Roberts AE, Allanson JE, Tartaglia M, Gelb BD| title=Noonan syndrome. | journal=Lancet | year= 2013 | volume= 381 | issue= 9863 | pages= 333-42 | pmid=23312968 | doi=10.1016/S0140-6736(12)61023-X | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23312968 }} </ref><ref name="pmid17222357">{{cite journal| author=van der Burgt I| title=Noonan syndrome. | journal=Orphanet J Rare Dis | year= 2007 | volume= 2 | issue= | pages= 4 | pmid=17222357 | doi=10.1186/1750-1172-2-4 | pmc=PMC1781428 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17222357 }} </ref> | * Patients with Noonan syndrome require lifetime cardiac follow-up. After initial evaluation including a focused cardiac physical exam, [[echocardiography]], and [[electrocardiography]], follow up is based on work-up findings. If initial work-up is unremarkable, a follow up is recommended every 5 years. <ref name="pmid23312968">{{cite journal| author=Roberts AE, Allanson JE, Tartaglia M, Gelb BD| title=Noonan syndrome. | journal=Lancet | year= 2013 | volume= 381 | issue= 9863 | pages= 333-42 | pmid=23312968 | doi=10.1016/S0140-6736(12)61023-X | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=23312968 }} </ref><ref name="pmid17222357">{{cite journal| author=van der Burgt I| title=Noonan syndrome. | journal=Orphanet J Rare Dis | year= 2007 | volume= 2 | issue= | pages= 4 | pmid=17222357 | doi=10.1186/1750-1172-2-4 | pmc=PMC1781428 | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17222357 }} </ref> | ||
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* The second most common cardiac manifestation of Noonan syndrome is [[hypertrophic cardiomyopathy]]. Management is usually similar to most patients with HCM and includes [[beta-blockers]] and surgical [[myomectomy]] in certain cases with significant outflow obstruction. <ref name="pmid20876176">{{cite journal| author=Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME et al.| title=Noonan syndrome: clinical features, diagnosis, and management guidelines. | journal=Pediatrics | year= 2010 | volume= 126 | issue= 4 | pages= 746-59 | pmid=20876176 | doi=10.1542/peds.2009-3207 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20876176 }} </ref> | * The second most common cardiac manifestation of Noonan syndrome is [[hypertrophic cardiomyopathy]]. Management is usually similar to most patients with HCM and includes [[beta-blockers]] and surgical [[myomectomy]] in certain cases with significant outflow obstruction. <ref name="pmid20876176">{{cite journal| author=Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME et al.| title=Noonan syndrome: clinical features, diagnosis, and management guidelines. | journal=Pediatrics | year= 2010 | volume= 126 | issue= 4 | pages= 746-59 | pmid=20876176 | doi=10.1542/peds.2009-3207 | pmc= | url=http://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=20876176 }} </ref> | ||
===Endocrine and Developmental=== | |||
===Renal and Genitourinary=== | |||
===Hematology and Oncology=== | |||
===Neurologic and Behavioral=== | |||
===Gastrointestinal=== | |||
===Lymphatic=== | |||
==References== | ==References== | ||
Revision as of 23:46, 14 November 2013
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Serge Korjian
Overview
Management and Follow-up
A mutlidisciplinary team is often needed in the management of Noonan syndrome. A system-based approach is usually adopted and recommendations are based on the severity of disease manifestations.
Cardiovascular
- Patients with Noonan syndrome require lifetime cardiac follow-up. After initial evaluation including a focused cardiac physical exam, echocardiography, and electrocardiography, follow up is based on work-up findings. If initial work-up is unremarkable, a follow up is recommended every 5 years. [1][2]
- The most common cardiac finding is pulmonary valve stenosis. If mild, only periodic follow-up is recommended. If clinically significant, pulmonary balloon valvuloplasty is recommended in the absence of significant valve dysplasia. With significantly dysplastic valves a pulmonary valvectomy or pulmonary valve homograft during childhood is the first line management. [3]
- The second most common cardiac manifestation of Noonan syndrome is hypertrophic cardiomyopathy. Management is usually similar to most patients with HCM and includes beta-blockers and surgical myomectomy in certain cases with significant outflow obstruction. [3]
Endocrine and Developmental
Renal and Genitourinary
Hematology and Oncology
Neurologic and Behavioral
Gastrointestinal
Lymphatic
References
- ↑ Roberts AE, Allanson JE, Tartaglia M, Gelb BD (2013). "Noonan syndrome". Lancet. 381 (9863): 333–42. doi:10.1016/S0140-6736(12)61023-X. PMID 23312968.
- ↑ van der Burgt I (2007). "Noonan syndrome". Orphanet J Rare Dis. 2: 4. doi:10.1186/1750-1172-2-4. PMC 1781428. PMID 17222357.
- ↑ 3.0 3.1 Romano AA, Allanson JE, Dahlgren J, Gelb BD, Hall B, Pierpont ME; et al. (2010). "Noonan syndrome: clinical features, diagnosis, and management guidelines". Pediatrics. 126 (4): 746–59. doi:10.1542/peds.2009-3207. PMID 20876176.
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