Prolapse of all cardiac valves in Noonan syndrome

Noonan syndrome is an autosomal dominant disorder with genetically heterogeneous inheritance. The incidence of cardiac abnormalities is higher in patients with Noonan syndrome and approximately 80% patients with Noonan syndrome are reported to have cardiac abnormalities during their lifetimes. Howev...

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Veröffentlicht in:BMJ case reports 2015-02, Vol.2015, p.bcr2014207241
Hauptverfasser: Otikunta, Adikesava Naidu, Subbareddy, Y V, Polamuri, Praneeth, Thakkar, Ashok
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Sprache:eng
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Zusammenfassung:Noonan syndrome is an autosomal dominant disorder with genetically heterogeneous inheritance. The incidence of cardiac abnormalities is higher in patients with Noonan syndrome and approximately 80% patients with Noonan syndrome are reported to have cardiac abnormalities during their lifetimes. However, polyvalvular disease in Noonan syndrome is rare. In this case-report, we describe a case of a young man whose features were strongly suggestive of Noonan syndrome and who was diagnosed with prolapse of all four cardiac valves after 22 years of uneventful survival.
ISSN:1757-790X
1757-790X
DOI:10.1136/bcr-2014-207241