Bernstein, Jonathan A. and Bernstein, Daniel and Hehr, Ute and Hudgins, Louanne (2011) Familial Cardiac Valvulopathy Due to Filamin A Mutation. AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 155A (9). pp. 2236-2241. ISSN 1552-4825,
Full text not available from this repository. (Request a copy)Abstract
We report on the clinical findings in siblings affected by the recently characterized X-linked form of hereditary cardiac valvular dystrophy or cardiac valve disease (OMIM 314400) due to mutations in the FLNA gene and review the literature on this condition. Although FLNA related cardiac valve disease is presumed to be a rare disorder, it is likely underdiagnosed. Several features of this condition may aid in its identification. FLNA related valvular disease can be recognized on the basis of its distinctive inheritance, early age of onset, and frequent multi-valve involvement. (C) 2011 Wiley-Liss, Inc.
| Item Type: | Article |
|---|---|
| Uncontrolled Keywords: | MITRAL-VALVE-PROLAPSE; PERIVENTRICULAR HETEROTOPIA; VALVULAR DYSTROPHY; LOCUS; valvular heart disease; congenital; filamin A; X-linked; mitral valve; pulmonary valve; aortic valve; tricuspid valve |
| Subjects: | 600 Technology > 610 Medical sciences Medicine |
| Divisions: | Medicine > Lehrstuhl für Humangenetik |
| Depositing User: | Dr. Gernot Deinzer |
| Date Deposited: | 02 Jun 2020 06:38 |
| Last Modified: | 02 Jun 2020 06:38 |
| URI: | https://pred.uni-regensburg.de/id/eprint/20332 |
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