Berardinelli-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. © 2008 Elsevier Masson SAS. All rights reserved.
|Journal||European Journal of Medical Genetics|
|Publication status||Published - 1 Jan 2009|
- Berardinelli-Seip congenital lipodystrophy
- Hypertrophic cardiomyopathy
- Insulin resistance