Titin truncating mutations: a rare cause of dilated cardiomyopathy in the young
Truncating mutations in the TTN gene are the most common genetic cause of dilated
cardiomyopathy in adults but their role in young patients is unknown. We studied 82 young
dilated cardiomyopathy subjects and found that the prevalence of truncating TTN mutations
in adolescents was similar to adults, but surprisingly few truncating TTN mutations were
identified in affected children, including one confirmed de novo variant. In several cases,
truncating TTN mutations in children with dilated cardiomyopathy had evidence of additional …
cardiomyopathy in adults but their role in young patients is unknown. We studied 82 young
dilated cardiomyopathy subjects and found that the prevalence of truncating TTN mutations
in adolescents was similar to adults, but surprisingly few truncating TTN mutations were
identified in affected children, including one confirmed de novo variant. In several cases,
truncating TTN mutations in children with dilated cardiomyopathy had evidence of additional …
