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BackgroundImproved understanding of dilated cardiomyopathy (DCM) due to titin truncation (TTNtv) may help guide patient stratification.ObjectivesThe purpose of this study was to establish relationships among TTNtv genotype, cardiac phenotype, and outcomes in DCM.MethodsIn this prospective, observational cohort study, DCM patients underwent clinical evaluation, late gadolinium enhancement cardiovascular magnetic resonance, TTN sequencing, and adjudicated follow-up blinded to genotype for the primary composite endpoint of cardiovascular death, and major arrhythmic and major heart failure events.ResultsOf 716 subjects recruited (mean age 53.5 ± 14.3 years; 469 men [65.5%]; 577 [80.6%] New York Heart Association function class I/II), 83 (11.6%) had TTNtv. Patients with TTNtv were younger at enrollment (49.0 years vs. 54.1 years; p = 0.002) and had lower indexed left ventricular mass (5.1 g/m2 reduction; padjusted = 0.03) compared with patients without TTNtv. There was no difference in biventricular ejection fraction between TTNtv+/- groups. Overall, 78 of 604 patients (12.9%) met the primary endpoint (median follow-up 3.9 years; interquartile range: 2.0 to 5.8 years), including 9 of 71 patients with TTNtv (12.7%) and 69 of 533 (12.9%) without. There was no difference in the composite primary outcome of cardiovascular death, heart failure, or arrhythmic events, for patients with or without TTNtv (hazard ratio adjusted for primary endpoint: 0.92 [95% confidence interval: 0.45 to 1.87]; p = 0.82).ConclusionsIn this large, prospective, genotype-phenotype study of ambulatory DCM patients, we show that prognostic factors for all-cause DCM also predict outcome in TTNtv DCM, and that TTNtv DCM does not appear to be associated with worse medium-term prognosis.

Original publication

DOI

10.1016/j.jacc.2017.08.063

Type

Journal article

Journal

Journal of the American College of Cardiology

Publication Date

10/2017

Volume

70

Pages

2264 - 2274

Addresses

National Heart Lung Institute, Imperial College London, London, United Kingdom; Cardiovascular Research Centre, Royal Brompton Hospital, London, United Kingdom.

Keywords

Humans, Cardiomyopathy, Dilated, Treatment Outcome, Cohort Studies, Follow-Up Studies, Prospective Studies, Single-Blind Method, Phenotype, Adolescent, Adult, Aged, Aged, 80 and over, Middle Aged, Child, Female, Male, Young Adult, Connectin