Severe cardiac phenotype of Berardinelli-Seip congenital lipod...

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Severe cardiac phenotype of Berardinelli-Seip congenital lipodystrophy in an infant with homozygous E189X BSCL2 mutation.
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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, Coroleu W, Del Alcazar R, Hilbert P, Van Maldergem L, and Pintos-Morell G
European journal of medical genetics 52(1):14-6, 2009 - Who cited this? | PubMed ID: 19041432 | Fulltext
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