Prevalent cardiac phenotype resulting in heart transplantation in a novel LMNA gene duplication

L. Volpi, G. Ricci, C. Passino, E. Di Pierri, G. Alì, M. Maccherini, S. Benedetti, G. Lattanzi, M. Columbaro, M. Ferrari, D. Caramella, P. Tanganelli, M. Emdin, G. Siciliano

Research output: Contribution to journalArticle

11 Citations (Scopus)

Abstract

Mutations in the lamin A/C gene (LMNA) are known to be involved in several diseases such as Emery-Dreifuss muscular dystrophy, limb-girdle muscular dystrophy type 1B and dilated cardiomyopathies with conduction disease, with considerable phenotype heterogeneity. Here we report on a novel autosomal dominant mutation in LMNA in two direct relatives presenting with different clinical phenotypes, characterized by severe life-threatening limb-girdle muscle involvement and cardiac dysfunction treated with heart transplantation in the proband, and by ventricular tachyarrhythmias with preserved cardiac and skeletal muscle function in her young son. To our knowledge, this is the first report of a duplication in the LMNA gene. The two phenotypes described could reflect different clinical stages of the same disease. We hypothesize that early recognition and initiation of therapeutic manoeuvres in the younger patient may retard the rate of progression of the cardiomyopathy.

Original languageEnglish
Pages (from-to)512-516
Number of pages5
JournalNeuromuscular Disorders
Volume20
Issue number8
DOIs
Publication statusPublished - Aug 2010

Fingerprint

Lamin Type A
Gene Duplication
Heart Transplantation
Phenotype
Genes
Myocardium
Emery-Dreifuss Muscular Dystrophy
Mutation
Dilated Cardiomyopathy
Nuclear Family
Cardiomyopathies
Tachycardia
Skeletal Muscle
Extremities

Keywords

  • Dilated cardiomyopathy
  • Lamin A/C
  • Limb-girdle muscular dystrophy

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Genetics(clinical)
  • Neurology

Cite this

Volpi, L., Ricci, G., Passino, C., Di Pierri, E., Alì, G., Maccherini, M., ... Siciliano, G. (2010). Prevalent cardiac phenotype resulting in heart transplantation in a novel LMNA gene duplication. Neuromuscular Disorders, 20(8), 512-516. https://doi.org/10.1016/j.nmd.2010.03.016

Prevalent cardiac phenotype resulting in heart transplantation in a novel LMNA gene duplication. / Volpi, L.; Ricci, G.; Passino, C.; Di Pierri, E.; Alì, G.; Maccherini, M.; Benedetti, S.; Lattanzi, G.; Columbaro, M.; Ferrari, M.; Caramella, D.; Tanganelli, P.; Emdin, M.; Siciliano, G.

In: Neuromuscular Disorders, Vol. 20, No. 8, 08.2010, p. 512-516.

Research output: Contribution to journalArticle

Volpi, L, Ricci, G, Passino, C, Di Pierri, E, Alì, G, Maccherini, M, Benedetti, S, Lattanzi, G, Columbaro, M, Ferrari, M, Caramella, D, Tanganelli, P, Emdin, M & Siciliano, G 2010, 'Prevalent cardiac phenotype resulting in heart transplantation in a novel LMNA gene duplication', Neuromuscular Disorders, vol. 20, no. 8, pp. 512-516. https://doi.org/10.1016/j.nmd.2010.03.016
Volpi, L. ; Ricci, G. ; Passino, C. ; Di Pierri, E. ; Alì, G. ; Maccherini, M. ; Benedetti, S. ; Lattanzi, G. ; Columbaro, M. ; Ferrari, M. ; Caramella, D. ; Tanganelli, P. ; Emdin, M. ; Siciliano, G. / Prevalent cardiac phenotype resulting in heart transplantation in a novel LMNA gene duplication. In: Neuromuscular Disorders. 2010 ; Vol. 20, No. 8. pp. 512-516.
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