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Familial mitral valve prolapse associated with short stature, characteristic face, and sudden death
Author(s) -
James Paul A.,
Aftimos Salim,
Skinner Jonathan R.
Publication year - 2003
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.20078
Subject(s) - mitral valve prolapse , medicine , short stature , proband , infective endocarditis , mastoiditis , forehead , sudden death , pediatrics , surgery , cardiology , mitral valve , genetics , otitis , biology , mutation , gene
Mitral valve prolapse (MVP) is frequently a familial disorder but in few of these inherited cases it does form a prominent component of a multiple congenital anomaly (MCA) syndrome. We report a family in which eight individuals in four generations were affected by a dominantly inherited disorder involving MVP, short stature, a dolicocephalic face, broad forehead, posteriorly angulated ears, long philtrum, thin upper lip, high arched palate, and a small mandible. The proband presented with infective mastoiditis, bacterial endocarditis, and a supraventricular tachycardia. One other family member also had infective mastoiditis and bacterial endocarditis and both the proband's mother and grandmother died suddenly at the age of 30 and 25 years, respectively. © 2003 Wiley‐Liss, Inc.