EC Paediatrics

Alström syndrome (ALMS) is a rare autosomal recessive genetic disorder with multisystem involvement (obesity, type 2 diabetes, cone-rod dystrophy, hearing loss, dilated cardiomyopathy…). Heart failure presents in infancy (1 - 4 months), apparent recovery of cardiac function within 3 years, but it recurs in adolescence or adulthood. Gradual and irreversible fibrosis leads to a progressive pulmonary, hepatic and cardiac dysfunction with poor prognosis. We report a Spanish 21-year-old male with ALMS and a body-mass index (BMI) of 31.0. The first clinical manifestation was a sudden abrupt onset of heart failure due to dilated cardiomyopathy by 4 months of age, with an apparently full recovery by age 2 years. However, despite treatment (diet, exercise, metformin, statin, fenofibrate, and topiramate), weight and analytical parameters did not improve. By age 20 years, treatment was considered with once-weekly subcutaneous semaglutide and after 12 months, BMI decreased and cardiovascular risk factors improved, with normal cardiac study (ECG, echocardiogram and magnetic resonance imaging). Obesity is associated with chronic low-grade inflammation, and may play an important role in development and progression of myocardial fibrosis, the pathogenesis of later onset cardiomyopathy in ALMS. Semaglutide could be considered, not only to promote weight loss and inhibit appetite, but also to improve cardiovascular risk factors, and therefore, it could delay or even prevent recurrence of heart disease in adulthood in patients with ALMS.

 Keywords: Alström Syndrome; Cardiomyopathy; Obesity; Semaglutide; Weight Loss

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