Filamin-a-related Myxomatous Mitral Valve Dystrophy: Genetic, Echocardiographic and Functional Aspects

Overview

Journal J Cardiovasc Transl Res

Publisher Springer

Specialty Cardiology & Vascular Diseases

Date 2011 Jul 21

PMID 21773876

Citations 18

Authors

Aurelie Lardeux

Florence Kyndt

Simon Lecointe

Herve Le Marec

Jean Merot

Jean-Jacques Schott

Thierry Le Tourneau

Vincent Probst

Affiliations

Soon will be listed here.

Abstract

Myxomatous dystrophy of the cardiac valves is a heterogeneous group of disorders, including syndromic diseases such as Marfan syndrome and isolated valvular diseases. Mitral valve prolapse, the most common form of this disease, is presumed to affect approximately 2% to 3% of the population and remains one of the most common causes of valvular surgery. During the past years, important effort has been made to better understand the pathophysiological basis of mitral valve prolapse. Autosomal-dominant transmission is the usual inheritance with reduced penetrance and variable expressivity. Three loci have been mapped to chromosomes 16p11-p12, 11p15.4 and 13q31-32, but the underlying genetic defects are not currently known. An X-linked recessive form has been originally described by Monteleone and Fagan in 1969. Starting from one large French family and three smaller other families in which MVP was transmitted with an X-linked pattern, we have been able to identify three filamin A mutations p.Gly288Arg and p.Val711Asp and a 1,944-bp genomic deletion coding for exons 16 to 19. In this review, we describe the genetic, echocardiographic and functional aspects of the filamin-A-related myxomatous mitral valve dystrophy.

Citing Articles

Biology of mitral valve prolapse: from general mechanisms to advanced molecular patterns-a narrative review.

Ronco D, Buttiglione G, Garatti A, Parolari A Front Cardiovasc Med. 2023; 10:1128195.

PMID: 37332582 PMC: 10272793. DOI: 10.3389/fcvm.2023.1128195.

The Role of Transforming Growth Factor-β Signaling in Myxomatous Mitral Valve Degeneration.

Tang Q, McNair A, Phadwal K, Macrae V, Corcoran B Front Cardiovasc Med. 2022; 9:872288.

PMID: 35656405 PMC: 9152029. DOI: 10.3389/fcvm.2022.872288.

Periostin/Filamin-A: A Candidate Central Regulatory Axis for Valve Fibrogenesis and Matrix Compaction.

Misra S, Ghatak S, Moreno-Rodriguez R, Norris R, Hascall V, Markwald R Front Cell Dev Biol. 2021; 9:649862.

PMID: 34150753 PMC: 8209548. DOI: 10.3389/fcell.2021.649862.

Role of the Epicardium in the Development of the Atrioventricular Valves and Its Relevance to the Pathogenesis of Myxomatous Valve Disease.

Wolters R, Deepe R, Drummond J, Harvey A, Hiriart E, Lockhart M J Cardiovasc Dev Dis. 2021; 8(5).

PMID: 34066253 PMC: 8152025. DOI: 10.3390/jcdd8050054.

Macrophage lineages in heart valve development and disease.

Kim A, Xu N, Yutzey K Cardiovasc Res. 2020; 117(3):663-673.

PMID: 32170926 PMC: 8453806. DOI: 10.1093/cvr/cvaa062.

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