Genomics of Arrhythmias

Potentially lethal inherited arrhythmia syndromes could be inherited. The list of potentially associated genes is growing. Long QT syndrome has been linked with LQTS; KCNH2, KCNQ1, SCN5A; Brugada syndrome to SCN5A, arrhythmogenic cardiomyopathy to LMNA, and catecholamine-induced polymorphic ventricular tachycardia to RYR2. Characteristic TU–Wave Patterns Predict the KCNJ2 Genotype

eMERGE-III study analyzes phenotype and genotype data for individuals with health problems as well as healthy volunteers. 

Through this study, 109 Mendelian disease genes, including 10 associated with arrhythmias, were sequenced in 21,846 individuals who had no indication for arrythmia-related genetic testing.

In 1,838 patients, researchers found never-before-seen variations in the 10 genes associated with genetic arrhythmia, highlighting the problem of variants of unknown significance in the new era of genomic medicine for cardiac disease.



REFERENCES

Glazer AM, Davogustto G, Shaffer CM, Vanoye CG, Desai RR, Farber-Eger EH, Dikilitas O, Shang N, Pacheco JA, Yang T, Muhammad A. Arrhythmia variant associations and reclassifications in the eMERGE-III sequencing study. Circulation. 2022 Mar 22;145(12):877-91.

Walsh R, Bezzina C, Wilde AA. First Steps of Population Genomic Medicine in the Arrhythmia World: Pros and Cons. Circulation. 2022 Mar 22;145(12):892-5.


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