Importance of Genetic Testing in Unexplained Cardiac Arrest
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Pakistan Heart Journal
Abstract
Unexplained cardiac arrest in young individuals remains a major diagnostic challenge despite advanced clinical evaluation. Emerging evidence highlights a significant genetic contribution, particularly involving arrhythmia and cardiomyopathy-associated genes. Whole-exome sequencing can meaningfully increase diagnostic yield, revealing concealed cardiomyopathy in structurally normal hearts. When integrated with comprehensive phenotyping and multidisciplinary interpretation, targeted genetic testing offers important implications for patient management, family screening, and prevention of sudden cardiac death, even in resource-limited healthcare settings.
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Pakistan Heart Journal; Vol. 58 No. 4 (2025), pp. 344-346