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Truncating variants in the gene encoding titin (TTNtv) are found in 13–25% of dilated cardiomyopathy (DCM) cases.1,2 In DCM patients, TTNtv are associated with early arrhythmic risk, composed of atrial fibrillation (AF), non-sustained and/or sustained ventricular tachycardia.3 TTNtv in the Aband region, or in constitutively expressed exons of TTN, are generally believed to be pathogenic, but assigning pathogenicity can be challenging because TTNtv are also found in control populations.4 Here we describe the TTN c.59926+1G >A splice-site variant located in the Aband (chr2:179456704C>T, build GRCh37; NM_001267550.2 reference sequence) that we have identified in multiple probands with DCM. Written informed consent was obtained from all participants following local medical ethics committee guidelines. Our study and all experiments conformed with the principles of the Declaration of Helsinki.

The first titin (c.59926 + 1G > A) founder mutation associated with dilated cardiomyopathy