A novel TAFAZZIN gene variant c.525_533del causing Barth syndrome and leading to heart transplantation: a case report

Barth syndrome (BTHS) is an ultra-rare genetic disease caused by a mutation in the TAFAZZIN gene, located on the X chromosome. This gene codes for the protein tafazzin, which is involved in the metabolism of the mitochondrial phospholipid - cardiolipin. Symptoms of this genetic defect include dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth retardation, reduced cholesterol levels, increased serum lactic acid levels, and hypoglycemia in the neonatal period.

A Caucasian boy with DCM and left ventricular non-compaction associated with BTHS, caused by a previously unreported variant in the TAFAZZIN gene: NM_000116.4:c.525_533del; NP_000107.1:p.(His176_Phe178del) at NC_000023.11:g.154419607_154419615del, in the exon 6. Due to the patient's heart failure, a mechanical circulatory support (MCS) system was required, followed by orthotopic heart transplantation (OHT). Because of the presence of neutropenia, standard immunosuppressive therapy had to be modified in the postoperative period.

A previously unreported mutation is presented, leading to BTHS. This disease can have severe cardiovascular manifestations, requiring MCS and OHT.