Case Report: Restrictive cardiomyopathy due to a rare mutation in troponin I <i>gene</i> (<i>TNNI3</i>) in a patient.

ABSTRACT:

Background

Restrictive cardiomyopathy (RCM) is a rare cardiomyopathy often characterized by normal or reduced ventricular chamber volume and bi-atrial enlargement, caused mainly by mutations in the myonodal gene. It has a low incidence, non-specific clinical manifestations, rapid progression, and lack of specific treatment, with heart transplantation usually being the ultimate treatment.

Methods and results

This case reports a case of a 2-year-2-month-old boy located in Yunnan Province, China, who was admitted to the hospital with a 2-month history of orofacial bruising, aggravated by a 1-week history of bilateral eyelid swelling. After admission, electrocardiogram showed bi-atrial enlargement, echocardiography suggested bi-atrial enlargement with right and left ventricular

SUBMITTER: Deng L 

PROVIDER: S-EPMC11614833 | biostudies-literature | 2024

REPOSITORIES: biostudies-literature