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Familial mitral valve prolapse associated with short stature, characteristic face, and sudden death.
. 2003 May 15; 119A(1):32-6.

Abstract

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.

Authors+Show Affiliations

Northern Regional Genetics Service, Auckland Hospital, Auckland, New Zealand.No affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article

Language

eng

PubMed ID

12707955

Citation

James, Paul A., et al. "Familial Mitral Valve Prolapse Associated With Short Stature, Characteristic Face, and Sudden Death." American Journal of Medical Genetics. Part A, vol. 119A, no. 1, 2003, pp. 32-6.
James PA, Aftimos S, Skinner JR. Familial mitral valve prolapse associated with short stature, characteristic face, and sudden death. Am J Med Genet A. 2003;119A(1):32-6.
James, P. A., Aftimos, S., & Skinner, J. R. (2003). Familial mitral valve prolapse associated with short stature, characteristic face, and sudden death. American Journal of Medical Genetics. Part A, 119A(1), 32-6.
James PA, Aftimos S, Skinner JR. Familial Mitral Valve Prolapse Associated With Short Stature, Characteristic Face, and Sudden Death. Am J Med Genet A. 2003 May 15;119A(1):32-6. PubMed PMID: 12707955.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Familial mitral valve prolapse associated with short stature, characteristic face, and sudden death. AU - James,Paul A, AU - Aftimos,Salim, AU - Skinner,Jonathan R, PY - 2003/4/23/pubmed PY - 2003/12/25/medline PY - 2003/4/23/entrez SP - 32 EP - 6 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 119A IS - 1 N2 - 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. SN - 1552-4825 UR - https://wwww.unboundmedicine.com/medline/citation/12707955/Familial_mitral_valve_prolapse_associated_with_short_stature_characteristic_face_and_sudden_death_ L2 - https://doi.org/10.1002/ajmg.a.20078 DB - PRIME DP - Unbound Medicine ER -