Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation.
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.
Friguls
B
B
Department of Paediatrics, Germans Trias i Pujol Hospital, Badalona, Autonomous University of Barcelona, Spain.
Coroleu
W
W
del Alcazar
R
R
Hilbert
P
P
Van Maldergem
L
L
Pintos-Morell
G
G
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
C432679:BSCL2 protein, human; D044388:GTP-Binding Protein gamma Subunits