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

Sok-Leng Kang, Jonathan Forsey, Declan Dudley, Colin G Steward, Beverly Tsai-Goodman

Research output: Contribution to journalArticle (Academic Journal)peer-review

17 Citations (Scopus)

Abstract

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.

Original languageEnglish
Pages (from-to)167-76
Number of pages10
JournalPediatric Cardiology
Volume37
Issue number1
Early online date4 Sep 2015
DOIs
Publication statusE-pub ahead of print - 4 Sep 2015

Keywords

  • Adolescent
  • Barth Syndrome
  • Cardiomyopathies
  • Child
  • Child, Preschool
  • Echocardiography
  • Electrocardiography
  • Female
  • Great Britain
  • Humans
  • Infant
  • Male
  • Survival Analysis
  • Young Adult
  • Journal Article

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