Association of titin variations with late-onset dilated cardiomyopathy
JAMA Feb 15, 2022
Findings indicate that late-onset dilated cardiomyopathy could represent a specific subgroup of patients and favor the use of extensive genetic testing in older patients as it could offer crucial etiologic and prognostic information.
In this cohort study of 184 patients with late-onset dilated cardiomyopathy, the prevalence, type, and prognostic effect of disease-related rare variants were determined.
A total of 66 patients (36%) were identified to be carriers of a pathogenic or likely pathogenic (P/LP) variant.
Most prevalent were titin-truncating variants (present in 46 [25%] of the total population and accounting for 46 [69%] of all genotype-positive patients).
A median (interquartile range) follow-up of 42 (10-115) months revealed deaths of 23 patients (13%); 17 (25%) of these were carriers of P/LP variants, while 6 patients (5.1%) were genotype-negative.
Higher mortality was noted in patients with a positive genetic test vs genotype-negative patients.
Relative to the current epidemiology, findings demonstrated a high genetic variation burden, largely because of titin-truncating variants.
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