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

B. Friguls, W. Coroleu, R. del Alcazar, P. Hilbert, L. Van Maldergem, G. Pintos-Morell

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21 Citations (Scopus)

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. © 2008 Elsevier Masson SAS. All rights reserved.
Original languageEnglish
Pages (from-to)14-16
JournalEuropean Journal of Medical Genetics
Volume52
Issue number1
DOIs
Publication statusPublished - 1 Jan 2009

Keywords

  • Berardinelli-Seip congenital lipodystrophy
  • Hypertrophic cardiomyopathy
  • Insulin resistance
  • Leptin

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