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Updated: May 16, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
Published on: January 16, 2019
Assessment of genetic causes of cardiac arrest
Matthew T Bennett1, Shubhayan Sanatani, Santabhanu Chakrabarti
1Division of Cardiology, University of British Columbia, Vancouver, British Columbia, Canada.
Abstract:
Unexplained cardiac arrest is defined as a cardiac arrest in the absence of coronary artery disease and overt structural heart disease, present in 5%-10% of cardiac arrest survivors. A genetic contribution to cardiac arrest is more common in this population, most commonly attributed to an inherited ion channel abnormality leading to familial syncope and sudden death. The common causes are Long QT and Brugada syndrome, catecholaminergic ventricular tachycardia, idiopathic ventricular fibrillation, and early repolarization syndrome. Latent structural causes include inherited cardiomyopathy such as arrhythmogenic right ventricular cardiomyopathy. We review these causes in detail and a structured approach to the investigation of these patients, which provides a diagnosis in approximately half of these patients. This allows for the initiation of disease-specific treatments and enables family screening.
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