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Cardiomyopathy in congenital complete lipodystrophy
Author(s) -
Bhayana S,
Siu VM,
Joubert GI,
Clarson CL,
Cao H,
Hegele RA
Publication year - 2002
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1034/j.1399-0004.2002.610407.x
Subject(s) - lipodystrophy , lmna , cardiomyopathy , medicine , genetics , hypertrophic cardiomyopathy , mutation , frameshift mutation , hyperinsulinemia , endocrinology , biology , gene , insulin resistance , heart failure , insulin , virus , viral load , antiretroviral therapy
Molecular genetic studies have pointed to a relationship between congenital lipodystrophy syndromes and some cardiac disorders. For instance, mutations in LMNA cause either lipodystrophy or cardiomyopathy, indicating that different mutations in the same gene can produce these clinical syndromes. The present authors describe a 10‐year‐old female with Berardinelli–Seip congenital complete lipodystrophy (MIM 606158) caused by homozygosity for a frameshift mutation in BSCL2 . In addition to the typical attributes of complete lipodystrophy, this subject had hypertrophic cardiomyopathy diagnosed in the first year of her life; its progress has been followed with non‐invasive imaging. The mechanism underlying the hypertrophic cardiomyopathy in complete lipodystrophy is unclear. It may result from a direct effect of the mutant gene or it might be secondary to the effects of hyperinsulinemia on cardiac development. The variability of the associated cardiomyopathy in patients with complete generalized lipodystrophy may be caused by differential effects of mutations in the same gene or of mutations in different genes which underlie the lipodystrophy phenotype.