Molecular autopsy and family screening in a young case of sudden cardiac death reveals an unusually severe case of <i>FHL1</i> related hypertrophic cardiomyopathy

Gaertner, Anna; Tiesmeier, Jens; Jakob, Thomas; Strickmann, Bernd; Veit, Gunter; Bachmann‐Mennenga, B.; Paluszkiewicz, Lech; Klingel, Karin; Schulz, Uwe; Thorsten Laser, Kai; Karger, B.; Pfeiffer, Heidi; Milting, Hendrik

doi:10.1002/mgg3.841

Public

Molecular autopsy and family screening in a young case of sudden cardiac death reveals an unusually severe case of FHL1 related hypertrophic cardiomyopathy

Published in Molecular Genetics & Genomic Medicine • Jul 10, 2019

Authors:

Anna Gaertner

Jens Tiesmeier

Thomas Jakob

Abstract

BACKGROUND: Hypertrophic cardiomyopathy (HCM) is a genetic cardiomyopathy with a prevalence of about 1:200. It is characterized by left ventricular hypertrophy, diastolic dysfunction and interstitial fibrosis; HCM might lead to sudden cardiac death (SCD) especially in the young. Due to low autopsy f...

Subject

Hypertrophic cardiomyopathy

Medicine

Sudden cardiac death

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