Does post-mortem genetic testing provide diagnostic utility in cases of Sudden Arrhythmic Death Syndrome?
Post-mortem genetic testing in SADS provides a modest diagnostic yield, primarily identifying CPVT and LQTS (especially the RYR2 gene), and its utility is enhanced when combined with clinical evaluation.
Molecular autopsy for electrical disorder and cardiomyopathy genes, using ACMG guidelines for variant classification, identified a modest but realistic yield in SADS. Our data highlighted the predominant role of catecholaminergic polymorphic ventricular tachycardia and long QT syndrome, especially the RYR2 gene, as well as the minimal yield from other genes. Furthermore, we showed the enhanced utility of combined clinical and genetic evaluation.
Lahrouchi et al. (Mon,) studied this question.