Human genome variation, 2022-08, Vol.9 (1), p.28-28, Article 28
2022
Details
- Autor(en) / Beteiligte
- Titel
- Arrhythmogenic right ventricular cardiomyopathy in a Japanese patient with a homozygous founder variant of DSG2 in the East Asian population
- Ist Teil von
- Human genome variation, 2022-08, Vol.9 (1), p.28-28, Article 28
- Ort / Verlag
- England: Springer Nature B.V
- Erscheinungsjahr
- 2022
- Link zum Volltext
- Quelle
- Free E-Journal (出版社公開部分のみ）
- Beschreibungen/Notizen
- 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.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 2054-345XeISSN: 2054-345XDOI: 10.1038/s41439-022-00206-9Titel-ID: cdi_doaj_primary_oai_doaj_org_article_dd42330beacb4461b947190d000a2c23
- Format
- –
- Schlagworte
- Age, Asian people, Cardiac arrhythmia, Cardiomyopathy, Congestive heart failure, Data Report, Electrocardiography, Families & family life, Genes, Genetic counseling, Genetic screening, Genomes, Heart failure, Hospitals, Magnetic resonance imaging, Parents & parenting, Patients, Population, Risk assessment, Ventricle