Screening of TGFBR1, TGFBR2, and FLNA in familial mitral valve prolapse. Issue 1 (15th November 2013)

• Record Type: Journal Article
• Authors: 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.
• Is Part Of: American journal of medical genetics. Volume 164:Issue 1(2014.)
• Page Start: 113
• Page End: 119
• Publication Date: 2013-11-15
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.36211
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title>ABSTRACT</title> <sec id="ajmga36211-sec-0001" sec-type="section"> <p>So far only mutations in the filamin A gene (<italic>FLNA</italic>) 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 (<italic>TGFBR1</italic>) and II (<italic>TGFBR2</italic>) 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 <italic>FLNA</italic> missense mutation (p.G288R) was identified in one large family, but no mutations were discovered in <italic>TGFBR1</italic> or <italic>TGFBR2</italic>. An <italic>FLNA</italic> missense mutation was identified in one family but we found no <italic>TGFBR1</italic> or <italic>TGFBR2</italic> mutations. Our results suggest that <italic>TGFBR1</italic> and <italic>TGFBR2</italic> mutations do not play a major role in isolated myxomatous valve dystrophy. Screening for <italic>FLNA</italic> mutations is recommended in familial myxomatous valvular dystrophy, particularly if X‐linked inheritance is suspected. © 2013 Wiley Periodicals, Inc.</p> </sec> </abstract>