Table 6.

Treatment of Manifestations in Individuals with Barth Syndrome

Manifestation/
Concern		TreatmentConsiderations/Other
Heart failure Standard treatment 1 incl careful fluid & volume mgmt & avoidance of overdiuresis & dehydration
Standard HF medications are used to improve symptoms, effect reverse remodeling of the ventricle, & improve ventricular function as measured by EF. 2
  • ACE inhibitors & beta blockers for typical outpatient mgmt 3
  • IV inotropes incl milrinone for in-patient mgmt of acute decompensation
Cardiac transplantation has been successful when HF is severe & intractable. 4Given the natural history of improving ventricular function after infancy, cardiac transplantation should be carefully considered.
Cardiac
arrhythmia 		Consideration of antiarrhythmic medications or implantable cardiac defibrillatorUse of these therapies prophylactically for prevention of primary arrhythmia has not been clarified. Long-term implantable cardiac monitoring devices can be considered for those at risk.
Neutropenia G-CSF of 2-3 μg/kg/dose w/frequency of administration ranging from 2x/wk to every other day 5, 6, 7
  • Consider regular administration of G-CSF (i.e., not only during times of high risk, e.g., surgery or infection).
  • Consider prophylactic antibiotics (see Prevention of Secondary Complications).
Skeletal muscle
weakness 		PTTo aid in attainment of developmental milestones & functional outcomes while monitoring cardiovascular status 8
Talipes
equinovarus
&/or scoliosis 		Standard treatment per orthopedist
Poor weight
gain / Failure
to thrive
  • Feeding therapy
  • Gastrostomy tube placement may be required for persistent feeding issues.
Low threshold for clinical feeding eval when showing poor weight gain
Hypoglycemia/
Nutrition 		Uncooked cornstarch given prior to bedtime
DD/ID See Developmental Delay / Intellectual Disability Management Issues.
Family/
Community
  • Ensure appropriate social work involvement to connect families w/local resources, respite, & support.
  • Coordinate care to manage multiple subspecialty appointments, equipment, medications, & supplies.
Consider involvement in adaptive sports or Special Olympics.

ACE = angiotensin-converting enzyme; DD = developmental delay; EF = ejection fraction; G-CSF = granulocyte colony-stimulating factor; HF = heart failure; ID = intellectual disability; IV = intravenous; PT = physical therapy

1.

See Kirk et al [2014] for pediatric heart failure management and Yancy et al [2017] for adult heart failure management guidelines.

2.

Although no studies are available to evaluate the effectiveness of medical therapy in males with Barth syndrome, when medications are stopped a decline in heart function is often observed. However, this can sometimes be difficult to distinguish from the natural fluctuations of the clinical phenotype (Clinical Description, Heart failure).

3.

Therapy received by 22 individuals in the French cohort [Rigaud et al 2013] included: 16/22 beta blockers, 9/22 beta blockers, 11/22 digoxin, 17/22 diuretics, 5/22 anticoagulants, and 5/22 aspirin.

4.
5.
6.

In 83 affected males, 42 of whom had been treated with G-CSF, the median dose was 2.78±0.78 μg/kg/dose (range: 0.45-12.8 μg/kg/dose) [Dale et al 2013]. On average, G-CSF was begun at age 5.8 years, with an average exposure of 7.3 years; none developed acute myeloid leukemia, and treatment responses to G-CSF were maintained long-term.

7.

Although neutropenia appears to improve with G-CSF treatment, in the French cohort in which six affected males were actively treated with G-CSF, two developed a severe infection, including one episode of septic shock [Rigaud et al 2013].

8.
9.

From: Barth Syndrome

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