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… - European journal of …, 2009 - Elsevier
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 …
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 …