Article
Molecular autopsy and clinical family screening in a case of sudden cardiac death reveals ACTN2 mutation related to hypertrophic/dilated cardiomyopathy and a novel LZTR1 variant associated with Noonan syndrome.
Molecular genetics & genomic medicine - 1 Jul 2022
Kraoua Lilia, Jaouadi Hager, Allouche Mohamed, Achour Ahlem, Kaouther Hakim, Ahmed Habib Ben, Chaker Lilia, Maazoul Faouzi, Ouarda Fatma, Zaffran Stéphane, M'rad Ridha
Abstract excerpt
BACKGROUND: Genetic cardiac diseases are the main trigger of sudden cardiac death (SCD) in young adults. Hypertrophic cardiomyopathy (HCM) is the most prevalent cardiomyopathy and accounts for 0.5 to 1% of SCD cases per year. METHODS: Herein, we report a family with a marked history of SCD focusing on one SCD young adult case and one pediatric case with HCM. RESULTS: For the deceased young adult, postmortem...
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