2. Academic Validation
  3. Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation

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

  • Eur J Med Genet. 2009 Jan-Feb;52(1):14-6. doi: 10.1016/j.ejmg.2008.10.006.
B Friguls 1,  W Coroleu,  R del Alcazar,  P Hilbert,  L Van Maldergem,  G Pintos-Morell
Affiliations

Affiliation

  • 1 Department of Paediatrics, Germans Trias i Pujol Hospital, Badalona, Autonomous University of Barcelona, Spain.
PMID: 19041432 DOI: 10.1016/j.ejmg.2008.10.006
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.

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