A novel Troponin I mutation associated with severe restrictive cardiomyopathy-a case report of a 27-year-old woman with fatigue.

ABSTRACT:

Background

Restrictive cardiomyopathy is rare and heterogeneous in origin, clinical manifestation, and prognosis. Familial forms have, amongst others, been associated with mutations in the TNNI3 gene. We present a case of familial restrictive cardiomyopathy associated with a novel TNNI3 mutation including longitudinal follow-up.

Case summary

A 27-year-old woman was evaluated for fatigue in the context of a family history of sudden cardiac death. Echocardiography was normal except for mild left atrial dilatation. Focused genetic screening, limited to the most common genes associated with cardiomyopathy, was unremarkable in 2006. In biopsy, mild inflammatory cardiomyopathy was diagnosed, and the patient was discharged. Thirteen years later, rapid clinical deterioration occurre

SUBMITTER: Gerhardt T 

PROVIDER: S-EPMC8843866 | biostudies-literature | 2022 Feb

REPOSITORIES: biostudies-literature