Open AccessA different background of arrhythmia in siblings with a positive family history of sudden death at young age
Author(s) -
StępieńWojno Małgorzata,
Franaszczyk Maria,
Bodalski Robert,
Śpiewak Mateusz,
Baranowski Rafał S.,
Grzybowski Jacek,
Płoski Rafał,
Bilińska Zofia T.
Publication year - 2020
Publication title -
annals of noninvasive electrocardiology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.494
H-Index - 48
eISSN - 1542-474X
pISSN - 1082-720X
DOI - 10.1111/anec.12707
Subject(s) - medicine , palpitations , proband , family history , cardiology , sudden cardiac death , sudden death , genetics , mutation , biology , gene
Abstract We present two symptomatic sisters who had a positive family history of sudden death. None of them had structural heart disease. In the 25‐year‐old proband, complex ventricular arrhythmia, cardiac conduction system disease, and skeletal muscle weakness were found. Genetic examination showed a pathogenic intronic variant in the desmin gene in the proband only. In the elder sister with palpitations, complex ventricular arrhythmia (>46 000 ectopic beats) was removed by radiofrequency ablation. This family case shows that complex ventricular arrhythmia may have different background within one family, genetic examinations should be performed in a person with broadest spectrum of symptoms.