Prevalence and clinical features of mitral valve prolapse

Levy, Daniel; Savage, Daniel D.

doi:10.1016/0002-8703(87)90956-2

Cited by 166 publications

(87 citation statements)

References 79 publications

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“…Nonrheumatic valve diseases include the more common AS, 2 MAC, 3,5 and MVP 4,6 and less frequent disorders such as bicuspid aortic valve, 13,14 supravalvular AS, 15,16 and pulmonary valve stenosis. 17 Development of these diseases is suspected to have a genetic component.…”

Section: Discussion Valve Disease and Geneticsmentioning

confidence: 99%

“…1 Causes of valvular diseases include nonrheumatic diseases such as mitral valve prolapse (MVP), mitral annular calcification (MAC), and senile aortic sclerosis/stenosis (AS), [2][3][4][5][6] as well as rheumatic heart diseases (RHDs) that are usually considered secondary to infection. Although all of these conditions may lead to death, 2,5,6 they are often benign.…”

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confidence: 99%

“…Although a genetic component is suggested [2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17] and death is a known, albeit rare, complication, 2,5,6 it is unknown whether genetic factors contribute to death resulting from valve diseases. The present study used a genealogical, populationbased resource linked to death records to evaluate the familiality of death resulting from cardiac valve diseases.…”

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confidence: 99%

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Evidence for a Heritable Component in Death Resulting From Aortic and Mitral Valve Diseases

et al. 2004

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Background-Cardiac valvular diseases contribute to Ͼ42 000 deaths yearly in the United States, but the role of genetics in these deaths is unknown. This study evaluated the familiality of death resulting from aortic, mitral, and all valvular diseases using a population-based genealogy linked to death records. Methods and Results-The Utah Population Database contains Ͼ2 million individual records with genealogy data and 250 000 linked death certificates. Nonrheumatic aortic (nϭ932), mitral (nϭ1165), and all valvular (nϭ2504) disease deaths and rheumatic heart disease deaths (nϭ4713) were studied. Familial relative risks (FRRs) were assessed for firstand second-degree relatives. Familiality was also evaluated with the genealogical index of familiality, which considers all relationships in the Utah Population Database. FRRs were increased only for mitral valve death in both first-degree (FRR, 2.55; PϽ0.0001) and second-degree (FRR, 1.67; PϽ0.0001) relatives. Genealogical index of familiality analysis showed significant excess relatedness for all groups (PϽ0.001). Genealogical index of familiality results (PϽ0.001) for early age at death cases showed higher mean relatedness, a common characteristic of heritable disorders. Excess familiality extended to distant relatives for mitral (second-degree relatives) and aortic (beyond second-degree relatives) valve death. Conclusions-Deaths resulting from nonrheumatic mitral and aortic diseases clustered among both close and distant relatives, especially among early age at death cases, suggesting a significant genetic component in death resulting from valvular diseases. Future studies should focus on gene discovery.

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Section: Discussion Valve Disease and Geneticsmentioning

confidence: 99%

mentioning

confidence: 99%

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confidence: 99%

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Evidence for a Heritable Component in Death Resulting From Aortic and Mitral Valve Diseases

et al. 2004

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“…Mitral valve prolapse (MVP) is a relatively common condition with a prevalence ranging from 2.4% to 15% of the adult population [1,2]. MVP may be a primary abnormality or may occur secondary to other disorders [2].…”

Section: Introductionmentioning

confidence: 99%

“…MVP may be a primary abnormality or may occur secondary to other disorders [2]. The exact cause of primary MVP is not completely understood but the contribution of genetic factors is evident.…”

Section: Introductionmentioning

confidence: 99%

Promoter polymorphism of the matrix metalloproteinase 3 gene is associated with regurgitation and left ventricular remodelling in mitral valve prolapse patients

Oceandy

Yusoff

Baudoin

et al. 2007

European J of Heart Fail

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Background and aims: Mitral valve prolapse (MVP) is common and highly variable in its severity, but the factors underlying this variability are unclear. In this study, we tested the hypothesis that polymorphic variations in Matrix Metalloproteinase (MMP) genes might be predictors of left ventricular (LV) remodelling and severity of regurgitation in MVP. Methods and results: 70 MVP patients and 75 normal subjects were studied. We performed comprehensive echocardiography and analyzed promoter polymorphisms in the MMP-1 and MMP-3 genes. The MMP-3 -1612 5A/6A polymorphism showed strong associations with indices of mitral regurgitation and LV remodelling: Patients with 5A/5A allele had more pronounced remodelling and more severe mitral regurgitation than patients with the 6A/6A or 5A/6A alleles. We then cloned and sequenced 2 kb fragments of MMP-3 promoter from patients with 5A/5A and 6A/6A genotypes and found 4 different sets of promoter haplotypes. Promoter analysis showed that higher promoter activity was related to a more severe phenotype and that the haplotype variants had a more dominant role in determining the activity. Conclusions: Our data identifies the MMP-3 promoter haplotype as a novel marker of an adverse disease course in MVP, suggesting the presence of genetic determinants for the severity of MVP.

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