Fabry Disease in Families With Hypertrophic Cardiomyopathy: Clinical Manifestations in the Classic and Later-Onset Phenotypes.

doi:10.1161/CIRCGENETICS.116.001639

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Article

Fabry Disease in Families With Hypertrophic Cardiomyopathy: Clinical Manifestations in the Classic and Later-Onset Phenotypes.

Circulation. Cardiovascular genetics - 1 Aug 2017

Adalsteinsdottir Berglind, Palsson Runolfur, Desnick Robert J, Gardarsdottir Marianna, Teekakirikul Polakit, Maron Martin, Appelbaum Evan, Neisius Ulf, Maron Barry J, Burke Michael A, Chen Brenden, Pagant Silvere, Madsen Christoffer V, Danielsen Ragnar, Arngrimsson Reynir, Feldt-Rasmussen Ulla, Seidman Jonathan G, Seidman Christine E, Gunnarsson Gunnar Th

Abstract excerpt

BACKGROUND: The screening of Icelandic patients clinically diagnosed with hypertrophic cardiomyopathy resulted in identification of 8 individuals from 2 families with X-linked Fabry disease (FD) caused by GLA(α-galactosidase A gene) mutations encoding p.D322E (family A) or p.I232T (family B). METHODS AND RESULTS: Familial screening of at-risk relatives identified mutations in 16 family A members (8 men and 8...

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PMID: 28798024
DOI: 10.1161/CIRCGENETICS.116.001639

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