Genetic Diagnosis in Sudden Cardiac Death: The Crucial Role of Multidisciplinary Care

• Main Authors: S. N. van der Crabben, F. L. Komdeur, E. J. Nossent, R. H. Lekanne Deprez, E. A. Broekhuizen, C. van der Werf, A. M. C. Vermeer, H. W. M. Niessen, A. C. Houweling
• Format: Article
• Language: English
• Published: MDPI AG 2021-05-01
• Series: Cardiogenetics
• Subjects: sudden death; autopsy; DNA diagnostics
• Online Access: https://www.mdpi.com/2035-8148/11/2/8
• ISSN: 2035-8253; 2035-8148

Sudden death, especially at a young age, may be caused by an underlying genetic cause. Hereditary conditions with an increased risk of sudden death at a young age include cardiomyopathies, arrhythmia syndromes, and hereditary thoracic aortic aneurysms and dissections. The identification of a genetic cause allows for genetic testing and cardiological surveillance in at-risk relatives. Three sudden death cases from our hospital illustrate the value of autopsy, genetic, and cardiological screening in relatives following a sudden death. On autopsy, histology consistent with hereditary cardiomyopathy is a reason for the referral of relatives. In addition, in the absence of an identifiable cause of death by autopsy in young sudden death patients, arrhythmia syndrome should be considered as a potential genetic cause.