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

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 frequencies of sudden unexplained deaths (SUD) the true prevalence of SCD and especially of HCM among SUD remains unclear. Even in cases of proven SCD genetic testing is not a routine procedure precluding appropriate risk stratification and counseling of relatives.

Methods

Here we report a case of SCD in a 19-year-old investigated by combined forensic and molecular autopsy.

Results

During autopsy of the index-patient HCM was detected. As no other possible cause of death could

SUBMITTER: Gaertner-Rommel A 

PROVIDER: S-EPMC6687666 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature