Noonan syndrome system-based management
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Serge Korjian
Overview
Management
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 Management
- 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]
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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