New locus for autosomal dominant mitral valve prolapse on chromosome 13 : Clinical insights from genetic studies

Mitral valve prolapse (MVP) is a common disorder associated with mitral regurgitation, endocarditis, heart failure, and sudden death. To date, 2 MVP loci have been described, but the defective genes have yet to be discovered. In the present study, we analyzed a large family segregating MVP, and iden...

Full description

Saved in:
Bibliographic Details
Published in:Circulation (New York, N.Y.) N.Y.), 2005-09, Vol.112 (13), p.2022-2030
Main Authors: NESTA, Francesca, LEYNE, Maire, YOSEFY, Chaim, SIMPSON, Charles, DAI, Daisy, MARSHALL, Jane E, HUNG, Judy, SLAUGENHAUPT, Susan A, LEVINE, Robert A
Format: Article
Language:English
Subjects:
Adult
Aged
Biological and medical sciences
Blood and lymphatic vessels
Cardiology. Vascular system
Cardiovascular system
Chromosome Mapping
Chromosomes, Human, Pair 13
Diseases of the peripheral vessels. Diseases of the vena cava. Miscellaneous
Echocardiography
Female
Genes, Dominant
Genetic Heterogeneity
Genetic Linkage
Hematologic and hematopoietic diseases
Humans
Lod Score
Male
Medical sciences
Middle Aged
Mitral Valve Prolapse - diagnostic imaging
Mitral Valve Prolapse - genetics
Pedigree
Pharmacology. Drug treatments
Platelet diseases and coagulopathies
Vasodilator agents. Cerebral vasodilators
Citations: Items that this one cites
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Mitral valve prolapse (MVP) is a common disorder associated with mitral regurgitation, endocarditis, heart failure, and sudden death. To date, 2 MVP loci have been described, but the defective genes have yet to be discovered. In the present study, we analyzed a large family segregating MVP, and identified a new locus, MMVP3. This study and others have enabled us to explore mitral valve morphological variations of currently uncertain clinical significance. Echocardiograms and blood samples were obtained from 43 individuals who were classified by the extent and pattern of displacement. Genotypic analyses were performed with polymorphic microsatellite markers. Evidence of linkage was obtained on chromosome 13q31.3-q32.1, with a peak nonparametric linkage score of 18.41 (P
ISSN:0009-7322
1524-4539
DOI:10.1161/CIRCULATIONAHA.104.516930