Myocardiopathy in siblings as initial manifestation of Alstrom Syndrome: Report of two cases

Abstract

Introduction: Alstrom syndrome is a rare monogenic recessive ciliopathy, with different presentation, presenting difficulty in early diagnosis, especially in children under five years old. Objectives: This paper aims to report two cases of Alstrom syndrome in siblings whose initial manifestation was dilated cardiomyopathy. Case report: Report of two cases of the syndrome in siblings, whose initial symptomatology was dilated cardiomyopathy, but with different evolutions, with total recovery of cardiomyopathy in one of them. Diagnosis was initially made in the older sister, after seeking Child Neurology service due to horizontal eye movements, previous history of cardiomyopathy, also obesity and hypertriglyceridemia. Her brother also presented dilated cardiomyopathy, but he still has no other symptons of the syndrome. The diagnosis of both was confirmed after molecular analysis. Discussion: In this report, attention is drawn to the intra-family variability of the disease, both related to the symptoms presented and to the evolution, making it even more difficult to diagnose the syndrome early. This variability suggests that epigenetic factors may play a role in the presentation of the disease, mainly by allelic modification.