PROGRESSIVE FAMILIAL HEART BLOCK ASSOCIATED WITH A MUTATION IN GENE TRPM4: A MOROCCAN FAMILY CASE
Journal: International Journal of Advanced Research (Vol.6, No. 12)Publication Date: 2018-12-01
Authors : Amine Qat Zakaria Raiss Ibtissam Fellat Mohamed Cherti; Ilham Ratbi.;
Page : 872-878
Keywords : TRPM4; Complete atrio-ventricular block; Progressive familial heart block PFHB; Progressive cardiac conduction defect PCCD; Permanent Pacemaker; Genetic screening;
Abstract
A 39 yo female patient was admitted for symptomatic complete atrioventricular Block. A family history and screening showed 5 cases of sudden death, and 4 cases of complete atrioventricular block, treated with Pacemaker implantation. Genetic screening showed a new variant in TRPM4 gene: c.512 G >A; p. Arg171Gln.
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