2022, Number 4
Cardiovasc Metab Sci 2022; 33 (4)
Restrictive cardiomyopathy in a paediatric patient: a case report
Ramírez, Óscar; Solano, Jhiamluka; Torres, Angie; Discua, Liliam
ABSTRACTRestrictive 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.