Early infantile cardiomyopathy and liver disease: a multisystemic disorder caused by congenital lipodystrophy

Mol Genet Metab. 2013 Jun;109(2):227-9. doi: 10.1016/j.ymgme.2013.04.011. Epub 2013 Apr 23.


Congenital generalized lipodystrophy is a rare inherited multisystemic disorder associated with disturbances of adipocyte functions. We report a young boy presenting at age 1 month with liver disease and severe hypertrophic cardiomyopathy. Despite this multisystemic involvement and contrasting with a cachectic appearance, the anthropometric parameters showed marked overgrowth (+4 DS), leading to diagnosis of congenital lipodystrophy, which was confirmed by the presence of the new homozygous c.259C>T (p.Gln87*) mutation in the AGPAT2 gene. Early infantile cardiomyopathy should be considered as a specific endophenotype in Berardinelli-Seip Congenital Lipodystrophy syndrome.

Publication types

  • Case Reports

MeSH terms

  • Acyltransferases / genetics
  • Cardiomyopathy, Hypertrophic / diagnosis*
  • Cardiomyopathy, Hypertrophic / etiology
  • Cardiomyopathy, Hypertrophic / genetics
  • Codon, Nonsense
  • Consanguinity
  • Humans
  • Infant
  • Lipodystrophy, Congenital Generalized / complications
  • Lipodystrophy, Congenital Generalized / diagnosis*
  • Lipodystrophy, Congenital Generalized / genetics
  • Liver Diseases / diagnosis*
  • Liver Diseases / etiology
  • Liver Diseases / genetics
  • Male


  • Codon, Nonsense
  • Acyltransferases
  • 2-acylglycerophosphate acyltransferase