Abstract

RAMIREZ, Óscar; SOLANO, Jhiamluka; TORRES, Angie  and  DISCUA, Liliam. Restrictive cardiomyopathy in a paediatric patient: a case report. Cardiovasc. metab. sci [online]. 2022, vol.33, n.4, pp.175-180.  Epub Sep 04, 2023. ISSN 2954-3835.  https://doi.org/10.35366/109244.

Restrictive cardiomyopathy is characterized by a severe diastolic impairment with a normal systolic function. It is the least common of all cardiomyopathies among paediatric patients. Restrictive cardiomyopathy has a poor prognosis and commonly requires a cardiac transplant. We present a case of a 12-year-old patient with four months history of heart failure symptoms and first-degree family history confirmed heterozygous mutation in the TNNI3 encoder. This paper is presented to emphasize the importance of genetic studies in families who have different cardiac phenotypes.

Keywords : restrictive cardiomyopathy; TNNI3 gene; diastolic heart failure; atrial remodeling.