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 < 0.001), despite apparent normal conventional measures of function. There was also reduced or reversed apical rotation and reduced left ventricular twist. Sustained ventricular arrhythmia was not seen at follow-up. Cardiac phenotype in BTHS is variable; however, longer-term outcome in our cohort suggests good prognosis after the first 5 years of life. Most patients appeared to have recovered near normal cardiac function by conventional echocardiographic measures, but strain analysis showed abnormal myocardial deformation and rotational mechanics.
Department of Paediatric Cardiology, Bristol Royal Hospital for Children, Paul O'Gorman Building, Upper Maudlin Street, Bristol, BS2 8BJ, UK. soklengkang@doctors.org.uk.
Sok-Leng
SL
Kang
Heart Centre for Children, Westmead, NSW, 2145, Australia.
Jonathan
J
Forsey
Department of Paediatric Cardiology, Bristol Royal Hospital for Children, Paul O'Gorman Building, Upper Maudlin Street, Bristol, BS2 8BJ, UK.
Declan
D
Dudley
NHS Specialised Services Barth Syndrome Service, Bristol Royal Hospital for Children, Bristol, UK.
Colin G
CG
Steward
Department of Paediatric Cardiology, Bristol Royal Hospital for Children, Paul O'Gorman Building, Upper Maudlin Street, Bristol, BS2 8BJ, UK.
Beverly
B
Tsai-Goodman
D000293:Adolescent; D056889:Barth Syndrome / Q000175:diagnosis* / Q000401:mortality / Q000503:physiopathology; D009202:Cardiomyopathies / Q000175:diagnosis* / Q000401:mortality / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D004452:Echocardiography / Q000379:methods; D004562:Electrocardiography; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D016019:Survival Analysis; D006113:United Kingdom; D055815:Young Adult
Barth syndrome; Cardiomyopathies; Echocardiography; Heart failure; Prognosis