Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation

Department of Paediatrics, “Germans Trias i Pujol” Hospital, Badalona, Autonomous University of Barcelona, Spain
European journal of medical genetics (Impact Factor: 1.49). 01/2009; DOI: 10.1016/j.ejmg.2008.10.006
Source: PubMed

ABSTRACT 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.


Available from: Guillem Pintos-Morell, Jun 04, 2015
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