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Discovery of TITIN gene truncating variant mutations and 5-year outcomes in patients with nonischemic dilated cardiomyopathy

The American Journal of Cardiology Oct 10, 2020

Anderson JL, Christensen GB, Escobar H, et al. - In view of the current interest in TITIN gene truncating variant mutations ( TTNtv) due to their frequent appearance in nonischemic dilated cardiomyopathy (NIDC) series, researchers analyzed a NIDC cohort in order to unveil known and novel TTNtv mutations as well as to examine 5-year outcomes. They examined 229 NIDC patients (age = 50 ± 15 years, 58% men). There were 27 patients with TTNtv’s, with 22 unique mutations; (7 known, 15 novel). TTNtv+ patients showed worse outcomes by 5-year and recovery was less often seen in patients. Similar prognosis was observed with known and novel mutations. A frequent presence of nongenetic (eg, environmental) cocausal risk factors for heart failure [HF] was noted, and these factors often seemed to act in concert with genetic variants to precipitate clinical HF. This work adds to the existing knowledge on the likely pathogenic TTN mutations as well as enhances the understanding of their clinical effect in association with other HF risk factors.

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