Case report of Barth syndrome: a forgotten cause of cardiomyopathy.

ABSTRACT:

Background

Barth syndrome (BTHS) is a rare X-linked recessive disorder characterized by clinical features including cardiomyopathy, skeletal myopathy, neutropenia, growth delay, and exercise intolerance. It is often considered to be a paediatric disease, owing to most cases being diagnosed during childhood and mortality being the highest during the first few years of life.

Case summary

We report a case of dilated cardiomyopathy due to BTHS in a 27-year-old adult male patient, who initially presented with lightheadedness, dyspnoea, orthopnoea, and bilateral lower extremity oedema. Key findings from investigations included leukopenia, prolonged QTc interval, reduced left ventricular ejection fraction (LVEF), global enlargement of all heart chambers, patent coronary arteries, a

SUBMITTER: Rao S 

PROVIDER: S-EPMC8453413 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature