Genetic Etiology in Cases of Life-Threatening Arrhythmia

Genetic testing may be able to identify apparent idiopathic bundle branch reentrant ventricular tachycardia (BBRVT), according to the results of research presented Nov. 12 during the young clinical investigator award session at AHA 2016, and simultaneously published in JACC: Clinical Electrophysiology .

Jason D. Roberts, MD, MAS, et al., evaluated six patients with BBRVT with normal biventricular size and function to investigate any underlying genetic etiology associated with the BBRVT. Researchers screened genes associated with cardiac conduction system disease for mutations, and the pathogenicity of the identified mutations were evaluated using in silico phylogenetic and physicochemical analyses and in vitro biophysical studies.

The results of the study found that three of the six cases had putative culprit mutations: two in SCN5A and c.4719C>T, and one in LMNA. According to the authors, “the SCN5A c.4719C>T splice site mutation has previously been reported as disease causing in three cases of Brugada syndrome, while the novel LMNA Leu327Val mutation was associated with a classic laminopathy phenotype.”

Further, researchers discovered that BBRVT was non-inducible in all cases following catheter ablation and patients did not experience a clinical recurrence during follow-up.

"These results should be viewed as preliminary given the small sample size," commented Kim A. Eagle, MD, MACC, editor-in-chief of

Clinical Topics: Arrhythmias and Clinical EP, SCD/Ventricular Arrhythmias

Keywords: AHA16, American Heart Association, AHA Annual Scientific Sessions, Tachycardia, Ventricular

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