Barth syndrome: a rare cause of cardiomyopathy in neonates

Barth syndrome (BTHS) is one of the rare X linked recessive diseases that appear in infancy with a triad of myocardial and skeletal muscle diseases, neutropenia and growth retardation. The pathogenic variant of <i>TAFAZZIN</i> gene leads to BTHS, which encodes the TAFAZZIN protein of the inner membrane of the mitochondria, a phosphatidyltransferase involved in cardiolipin remodelling and functional maturation. We present a case of a neonate presenting with early-onset cardiomyopathy, neutropenia and failure to thrive with no family history of cardiac diseases. Echocardiography suggested a dilated left ventricle with non-compaction and a low ejection fraction. The baby was managed with diuretics and decongestive measures. Clinical exome sequencing detected a hemizygous novel splice site variant c.541+2 T>C in <i>TAFAZZIN</i>, confirming the diagnosis of BTHS.