(OMIM 302060)

(3-methylglutaconic aciduria type 2, cardioskeletal myopathy, X-linked, cardioskeletal myopathy - neutropenia, AGM type 2)

Very rare. Incidence < 1/106.. X-linked mitochondrial cytopathy. Mutation of the TAZ gene (Xq28) coding for tafazzin that intervenes in the remodeling of cardiolipin in the internal mitochondrial membrane. Histologically, the mitochondria have an abnormal appearance.

 

Metabolic disorder associating at varying degrees:

-         a dilated or hypertrophic cardiomyopathy (more rarely); endocardial fibroelastosis, ventricular rhythm disorders; non compaction of the left ventricle (see this term)

-         3-methyl glutaconic aciduria

-         permanent or cyclical neutropenia: frequent infections

-         an aspecific myopathy: generalized hypotonia.

-        growth retardation

Sometimes: hypoglycemia, lactic acidosis, hyperammonemia

Barth syndrome generally presents in the first year of life with cardiac failure, but more progressive forms have been observed. Symptomatic treatment. Ongoing trials with subcutaneous elamipretide seem to improve the cardiac function.

Diagnosis: high monolysocardiolipin / cardiolipin level  ratio

Anesthetic implications: 

preoperative echocardiography; strict asepsis; avoid prolonged fasting; monitor blood glucose and lactates; management of a dilated or hypertrophic cardiomyopathy; avoid succinylcholine given the context of myopathy .

References:

-        Imai-Okazaki A, Kishita Y, Kohda M, Yatsuka Y et al.
Barth syndrome : different approaches to diagnosis.
J Pediatr 2018 ; 193 : 256-60

Updated: March 2018