Cardiomyopathy in congenital complete lipodystrophy
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...
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| Published in | Clinical genetics Vol. 61; no. 4; pp. 283 - 287 |
|---|---|
| Main Authors | , , , , , |
| Format | Journal Article |
| Language | English |
| Published |
Oxford, UK
Blackwell Science, Ltd
01.04.2002
Blackwell |
| Subjects | |
| Online Access | Get full text |
| ISSN | 0009-9163 1399-0004 |
| DOI | 10.1034/j.1399-0004.2002.610407.x |
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| Abstract | 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. |
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| AbstractList | 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. 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. 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.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. |
| Author | Bhayana, S Joubert, GI Hegele, RA Siu, VM Cao, H Clarson, CL |
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| Keywords | Heart Human Skin disease Secondary Congenital Variability Frameshift mutation Cardiovascular disease Homozygosity Myocardial disease Mechanism Phenotype Association Gene Heart disease Non invasive method Hypertrophic cardiomyopathy Development Female Genetics Lipodystrophy Adipose tissue disorders Diagnosis |
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Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet 2000: 9: 1453-1459. Chandalia M, Garg A, Vuitch F, Nizzi F. Postmortem findings in congenital generalized lipodystrophy. J Clin Endocrinol Metab 1995: 80: 3077-3081. Hegele RA. Premature atherosclerosis associated with monogenic insulin resistance. Circulation 2001: 103: 2225-2229. Fatkin D, MacRae C, Sasaki T, Wolff MR, Porcu M, Frenneaux M, et al. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med 1999: 341: 1715-1724. Bjornstad PG, Simb BKH, Trygstad O, Seip M. Echocardiographic assessment of cardiac function and morphology in patients with generalized lipodystrophy. Eur J Pediatr 1985: 144: 355-359. Maron BJ, Verter J. Disproportionate ventricular septal thickening in the developing normal human heart. 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Generalized lipodystrophy, congenital and acquired (lipoatrophy). Acta Paediatr 1996: 413 (Suppl.): 2-28. Breitweser JA, Meyer RA, Sperling MA, Tsang RC, Kaplan S. Cardiac septal hypertrophy in hyperinsulinemic infants. J Pediatr 1980: 96: 535-539. Ishihama H, Suzuki Y, Muramatsu K, Nagai M, Kokubo M, Shiraya H, et al. Long term follow up in Type A insulin resistant syndrome treated by insulin-like growth factor 1. Arch Dis Child 1994: 71: 144-146. Seip M. Lipodystrophy and gigantism with associated endocrine manifestation. Acta Paediatr 1959: 48: 555-574. Klar A, Brand A, Hurvitz H, Gross-Kieselstein E, Branski D. Cardiomyopathy in lipodystrophy and the specificity spillover hypothesis. 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| References_xml | – reference: Garg A, Wilson R, Barnes R, Arioglu E, Zaidi Z, Gurakan F, et al. A gene for congenital generalized lipodystrophy maps to human chromosome 9q34. J Clin Endocrinol Metab 1999: 84: 3390-3394. – reference: Breitweser JA, Meyer RA, Sperling MA, Tsang RC, Kaplan S. Cardiac septal hypertrophy in hyperinsulinemic infants. J Pediatr 1980: 96: 535-539. – reference: Viegas RFM, Diniz RVZ, Viegas TMRF, Lira EB, De Almeida DR. Cardiac involvement in total generalized lipodystrophy. Arq Bras Cardiol 2000: 75: 246-248. – reference: Chandalia M, Garg A, Vuitch F, Nizzi F. Postmortem findings in congenital generalized lipodystrophy. J Clin Endocrinol Metab 1995: 80: 3077-3081. – reference: Senior B, Gellis I. The syndromes of total lipodystrophy and partial lipodystrophy. Pediatrics 1964: 33: 593-612. – reference: Klar A, Brand A, Hurvitz H, Gross-Kieselstein E, Branski D. Cardiomyopathy in lipodystrophy and the specificity spillover hypothesis. 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Eur J Pediatr 1985: 144: 355-359. – reference: Magre J, Delepine M, Khallouf E, Gedde-Dahl T, Jr, Van Maldergem L, Sobel E, et al. Identification of the gene altered in Berardinelli-Seip congenital lipodystrophy on chromosome 11q13. Nat Genet 2001: 28: 365-370 .DOI: 10.1038/ng585 – reference: Cao H, Hegele RA. Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy. Hum Mol Genet 2000: 9: 109-112. – reference: Seip M. Lipodystrophy and gigantism with associated endocrine manifestation. Acta Paediatr 1959: 48: 555-574. – reference: Bonne G, DiBarletta MR, Varnous S, Becane HM, Hammouda EH, Merlini L, et al. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 1999: 21: 285-288. – reference: Geffner ME, Santulli TV, Kaplan AS. Hypertrophic cardiomyopathy in total lipodystrophy: Insulin action in the face of insulin resistance? 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| Snippet | Molecular genetic studies have pointed to a relationship between congenital lipodystrophy syndromes and some cardiac disorders. For instance, mutations in LMNA... Molecular genetic studies have pointed to a relationship between congenital lipodystrophy syndromes and some cardiac disorders. For instance, mutations in LMNA... |
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| SubjectTerms | adipose tissue Biological and medical sciences Cardiology. Vascular system Cardiomyopathies - complications Cardiomyopathies - genetics Cardiomyopathies - physiopathology cardiomyopathy Child Echocardiography Female GTP-Binding Protein gamma Subunits Heart heart failure Heterotrimeric GTP-Binding Proteins - genetics Humans insulin resistance lipodystrophy Lipodystrophy - complications Lipodystrophy - congenital Lipodystrophy - genetics Lipodystrophy - physiopathology Medical sciences Myocarditis. Cardiomyopathies |
| Title | Cardiomyopathy in congenital complete lipodystrophy |
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