Why the study?
Do 'severe' TTN missense variants affect clinical outcomes in patients with dilated cardiomyopathy?
Population
147 dilated cardiomyopathy (DCM) index subjects
Comparison
Presence of 'likely' or 'possibly' pathogenic… vs Noncarriers of a 'severe' TTN variant and…
Design
Cohort
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Severe TTN variants do not worsen DCM outcomes; leaves open their sarcomere localization for mechanistic studies.
Do 'severe' TTN missense variants affect clinical outcomes in patients with dilated cardiomyopathy?
TTN missense variants are common in DCM and present bioinformatic challenges, but 'severe' variants do not appear to worsen clinical course despite nonrandom distribution in the sarcomere.
A 2015 study studied this question.
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