Clinical Characteristics and Outcomes of Cardiomyopathy in Barth Syndrome: The UK Experience

Barth syndrome (BTHS) is an X-linked disorder characterised by cardiomyopathy, neutropenia, skeletal myopathy and growth delay. This study describes the UK national clinical experience and outcome of cardiomyopathy in BTHS. The clinical course and echocardiographic changes of all patients with BTHS in the UK were reviewed from 2004 to 2014. In addition, strain analysis using 2D speckle tracking echocardiography was performed to further assess left ventricular function in the most recent follow-up. At last follow-up, 22 of 27 patients were alive with a median age of 12.6 (2.0–23.8) years; seven underwent cardiac transplantation at a median age of 2 (0.33–3.6) years, and five died (18.5 %) at a median age of 1.8 (0.02–4.22) years. All deaths were related to cardiomyopathy or its management. Left ventricular diastolic dimension and systolic function measured by fractional shortening tended to normalise and stabilise after the first 3 years of life in the majority of patients. However, patients with BTHS ( n = 16) had statistically significant reduction in global longitudinal and circumferential strain compared to controls ( n = 18), ( p