Dados do Trabalho

Título

HEART TRANSPLANTATION IN A 12-YEARS-OLD BOY WITH A DYSTROPHINOPATHY: CASE REPORT

Apresentação do caso único

A 12-years-old boy was hospitalized due to abdominal pain and fatigue, a symptom that had been present for several years. Since 8 years-old has frequently falls. The mother reported that, prior to that age, the patient's motor development was normal, except for behavioral changes compatible with autism spectrum disorder. On neurological examination, the patient exhibited a proximal muscle weakness in lower limbs, a positive Gowers' sign and a calf hypertrophy. Laboratory tests revealed elevated transaminases (greater than 300 U/L) and CPK(12.137 U/L). The echocardiogram revealed a significant dilated cardiomyopathy with an ejection fraction of 16%. The skeletal muscle biopsy specimen showed a dystrophic pattern with reduced dystrophin staining consistent with dystrophinopathy. The genetic analysis revealed a homozygous variant in the DMD gene (chrX:31.929.759 A>C or alternatively c.6763-14T>G ENST00000357033). Due to the severe heart failure, an orthotopic heart transplantation was performed. One year after transplantation, the patient has demonstrated a notable improvement in quality of life, despite the persistence of symptoms associated with the underlying disease.

Discussão

Cardiomyopathies associated with dystrophinopathies are an increasingly recognized manifestation of these neuromuscular disorders and contribute significantly to their morbidity and mortality. Cardiac involvement in Becker muscular dystrophy (DMB) is usually present throughout life. The majority of patients have an asymptomatic cardiac involvement, but up to one third of patients develop dilated cardiomyopathy with variable degrees of heart failure. The heart transplantation should be considered in patients with good lung function and mild peripheral muscle change.

Comentários finais

This report discusses a Becker muscular dystrophy (DMB) patient who underwent heart transplantation, highlighting it as a viable treatment option for individuals with preserved ambulation, favorable life expectancy, and severe, medically unmanageable cardiomyopathy.

Referências

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Palavras Chave

Dystrophinopathy; Cardiomyopathy; heart transplantation;