Phenotype and Clinical Outcomes of Titin Cardiomyopathy
Upasana Tayal, Simon Newsome, Rachel Buchan, Nicola Whiffin, Brian Halliday, Amrit Lota, Angharad Roberts, A. John Baksi, Inga Voges, Will Midwinter, Alijca Wilk, Risha Govind, Roddy Walsh, Piers Daubeney, Julian W.E. Jarman, Resham Baruah, Michael Frenneaux, Paul J. Barton, Dudley Pennell, James S. Ware, Sanjay K. Prasad and Stuart A. Cook
Genotype, Phenotype, and Outcome Study of Titin DCM
Truncating variants in the titin gene (TTNtv) are the largest single genetic contributor to dilated cardiomyopathy (DCM). In this large, prospective, genotype-phenotype study of ambulatory DCM patients, we show that prognostic indicators for all-cause DCM also predict outcomes in TTNtv DCM, and that TTNtv DCM does not appear to be associated with a substantially worse medium-term prognosis, despite patients presenting at a younger age. CVS = cardiovascular; MRI = magnetic resonance imaging.