a b s t r a c tBerardinelli-Seip congenital lipodystrophy (BSCL) is a rare autosomal recessive condition associating insulin resistance, absence of subcutaneous fat and muscular hypertrophy. Disease-causing mutations have been described in AGPAT2 and BSCL2 genes. Hypertrophic cardiomyopathy is a classical late (third decade) complication which has only been occasionally described in childhood. We report on a 4-month -old Chinese male infant who presented with a severe BSCL ''cardiac'' phenotype comprising heart failure, hypertension and hypertrophic cardiomyopathy.