Familial mitral valve prolapse associated with short stature, characteristic face, and sudden death.
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.
James
Paul A
PA
Northern Regional Genetics Service, Auckland Hospital, Auckland, New Zealand.
Aftimos
Salim
S
Skinner
Jonathan R
JR
D000328:Adult; D001827:Body Height / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D003645:Death, Sudden; D019066:Facies; D005260:Female; D006333:Heart Failure / Q000235:genetics / Q000401:mortality; D006801:Humans; D008297:Male; D008945:Mitral Valve Prolapse / Q000235:genetics*; D010375:Pedigree