title: Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation.
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.
authors.affiliation: Department of Paediatrics, Germans Trias i Pujol Hospital, Badalona, Autonomous University of Barcelona, Spain.
authors.forename: B
authors.initials: B
authors.lastname: Friguls
authors.forename: W
authors.initials: W
authors.lastname: Coroleu
authors.forename: R
authors.initials: R
authors.lastname: del Alcazar
authors.forename: P
authors.initials: P
authors.lastname: Hilbert
authors.forename: L
authors.initials: L
authors.lastname: Van Maldergem
authors.forename: G
authors.initials: G
authors.lastname: Pintos-Morell
mesh_terms: D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics; D044388:GTP-Binding Protein gamma Subunits / Q000235:genetics*; D006333:Heart Failure / Q000235:genetics; D006720:Homozygote; D006801:Humans; D006973:Hypertension / Q000235:genetics; D007223:Infant; D052497:Lipodystrophy, Congenital Generalized / Q000235:genetics / Q000473:pathology*; D008297:Male; D020125:Mutation, Missense
chemical_list: C432679:BSCL2 protein, human; D044388:GTP-Binding Protein gamma Subunits