An article published in GeneReviews [Internet] reported that Barth syndrome – an inherited X-linked syndrome, is characterized by cardiomyopathy, neutropenia, skeletal myopathy, prepubertal growth delay and distinctive facial gestalt – most evident during infancy. This condition manifests in males and not all features may be present in an affected male. In pediatric patients, cardiomyopathy is almost always present before the age five years—which is characterized by typically dilated cardiomyopathy with or without endocardial fibroelastosis or left ventricular noncompaction. While, hypertrophic cardiomyopathy can also occur.

The authors stated that heart failure is a significant cause of morbidity and mortality in this patient population, as the risk of arrhythmia and sudden death is increased. Neutropenia is most often associated with mouth ulcers, pneumonia and sepsis. The nonprogressive myopathy predominantly affects the proximal muscles, and results in early motor delays. On the other hand, prepubertal growth delay is followed by a postpubertal growth spurt with remarkable compensatory growth. Heterozygous females who have a normal karyotype are asymptomatic and have normal biochemical studies.

Management strategies for this condition include – standard treatment of heart failure including careful fluid and volume management and avoidance of over-diuresis and dehydration, standard heart failure medications to improve symptoms, and cardiac transplantation when heart failure is severe and intractable. Furthermore, physical therapy for skeletal muscle weakness; standard treatment for talipes equinovarus and/or scoliosis; feeding therapy and consideration of gastrostomy tube for persistent feeding issues; uncooked cornstarch prior to bedtime for hypoglycemia; standard treatment for developmental delay / intellectual disability.

Additional measures involve aspirin therapy for prevention of clot formation in those with severe cardiac dysfunction and/or marked left ventricular noncompaction; antibiotic prophylaxis to prevent recurrent infections; limiting fasting or providing intravenous glucose infusion prior to planned procedures; regular monitoring of potassium levels during administration of IV fluids that contain potassium and during episodes of diarrhea; and consultation with a nutritionist and/or gastroenterologist to determine optimal caloric delivery. 

Prolonged fasting, use of rectal thermometers in those with neutropenia, and use of succinylcholine. Growth hormone is typically discouraged unless growth hormone deficiency is conclusively established, as the majority of affected males will attain normal stature by adulthood. The muscular involvement in Barth syndrome may increase the risk for malignant hyperthermia compared to the general population. 

Source: GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. 2014 Oct 9 [updated 2020 Jul 9].