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Screening of TGFBR 1 , TGFBR 2 , and FLNA in familial mitral valve prolapse
Author(s) -
Aalberts Jan J.J.,
van Tintelen J. Peter,
Oomen Toon,
Bergman Jorieke E.H.,
Halley Dicky J.J.,
Jongbloed Jan D.H.,
Suurmeijer Albert J.H.,
van den Berg Maarten P.
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36211
Subject(s) - flna , missense mutation , mitral valve prolapse , mutation , medicine , sudden death , genetics , biology , cardiology , filamin , gene , mitral valve , cytoskeleton , cell
So far only mutations in the filamin A gene ( FLNA ) have been identified as causing familial mitral valve prolapse (MVP). Previous studies have linked dysregulation of the transforming growth factor beta (TGF‐β) cytokine family to MVP. We investigated whether mutations in the TGF‐β receptors genes type I ( TGFBR1 ) and II ( TGFBR2 ) underlie isolated familial MVP cases. Eight families with isolated familial MVP were evaluated clinically and genetically. Ventricular arrhythmias were present in five of the eight families and sudden cardiac death occurred in six patients. Tissue obtained during mitral valve surgery or autopsy was available for histological examination in six cases; all demonstrated myxomatous degeneration. A previously described FLNA missense mutation (p.G288R) was identified in one large family, but no mutations were discovered in TGFBR1 or TGFBR2 . An FLNA missense mutation was identified in one family but we found no TGFBR1 or TGFBR2 mutations. Our results suggest that TGFBR1 and TGFBR2 mutations do not play a major role in isolated myxomatous valve dystrophy. Screening for FLNA mutations is recommended in familial myxomatous valvular dystrophy, particularly if X‐linked inheritance is suspected. © 2013 Wiley Periodicals, Inc.