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Arrhythmogenic right ventricular cardiomyopathy in a Japanese patient with a homozygous founder variant of DSG2 in the East Asian population.
- Source :
-
Human genome variation [Hum Genome Var] 2022 Aug 08; Vol. 9 (1), pp. 28. Date of Electronic Publication: 2022 Aug 08. - Publication Year :
- 2022
-
Abstract
- Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a hereditary cardiomyopathy that results in fatal arrhythmias and heart failure. Herein, we report a Japanese patient with ARVC whose parents were blood relatives. Genetic testing identified a homozygous rare variant, c.1592T > G (p.Phe531Cys), of DSG2 that is presumed to be a founder variant among East Asians. Genetic counseling sessions with precise risk assessment and appropriate follow-up programs were provided to the patient and family members.<br /> (© 2022. The Author(s).)
Details
- Language :
- English
- ISSN :
- 2054-345X
- Volume :
- 9
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Human genome variation
- Publication Type :
- Academic Journal
- Accession number :
- 35941102
- Full Text :
- https://doi.org/10.1038/s41439-022-00206-9