No evidence of cardiomyopathy in spinal and bulbar muscular atrophy

G. Querin, P. Melacini, C. D'Ascenzo, L. Morandi, L. Mazzini, V. Silani, S. Romito, J. Mandrioli, M. Raimondi, E. Pegoraro, G. Soraru'

Research output: Contribution to journalArticle

Abstract

Objectives: Spinal and bulbar muscular atrophy (SBMA) is a lower motor neuron disease caused by a CAG repeat expansion within the androgen receptor (AR) gene. Toxic nuclear accumulation of mutant AR has been observed in tissues other than nervous system including cardiac muscle. Moreover, CAG polymorphism length within AR has been associated with an increased risk of heart disease. Materials and methods: To test the hypothesis of the presence of cardiomyopathy in SBMA, a full cardiac protocol was applied to 25 SBMA patients. Results: Patients' age ranged between 32 and 75 years. Cardiologic examination, 12-lead ECG, and echocardiography showed no abnormalities other than those consistent with hypertensive heart disease. One patient showed frequent supraventricular premature beats in absence of other significant arrhythmias at the 24-h ECG Holter. Conclusions: Our findings do not support the hypothesis of a primary cardiomyopathy in SBMA.

Original languageEnglish
JournalActa Neurologica Scandinavica
Volume128
Issue number6
DOIs
Publication statusPublished - Dec 2013

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Atrophic Muscular Disorders
Cardiomyopathies
Androgen Receptors
Heart Diseases
Electrocardiography
Atrial Premature Complexes
Motor Neuron Disease
Poisons
Nervous System
Echocardiography
Cardiac Arrhythmias
Myocardium
Genes

Keywords

  • Androgen receptor
  • Heart
  • Polyglutamine
  • Spinal and bulbar muscular atrophy

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology

Cite this

Querin, G., Melacini, P., D'Ascenzo, C., Morandi, L., Mazzini, L., Silani, V., ... Soraru', G. (2013). No evidence of cardiomyopathy in spinal and bulbar muscular atrophy. Acta Neurologica Scandinavica, 128(6). https://doi.org/10.1111/ane.12140

No evidence of cardiomyopathy in spinal and bulbar muscular atrophy. / Querin, G.; Melacini, P.; D'Ascenzo, C.; Morandi, L.; Mazzini, L.; Silani, V.; Romito, S.; Mandrioli, J.; Raimondi, M.; Pegoraro, E.; Soraru', G.

In: Acta Neurologica Scandinavica, Vol. 128, No. 6, 12.2013.

Research output: Contribution to journalArticle

Querin, G, Melacini, P, D'Ascenzo, C, Morandi, L, Mazzini, L, Silani, V, Romito, S, Mandrioli, J, Raimondi, M, Pegoraro, E & Soraru', G 2013, 'No evidence of cardiomyopathy in spinal and bulbar muscular atrophy', Acta Neurologica Scandinavica, vol. 128, no. 6. https://doi.org/10.1111/ane.12140
Querin, G. ; Melacini, P. ; D'Ascenzo, C. ; Morandi, L. ; Mazzini, L. ; Silani, V. ; Romito, S. ; Mandrioli, J. ; Raimondi, M. ; Pegoraro, E. ; Soraru', G. / No evidence of cardiomyopathy in spinal and bulbar muscular atrophy. In: Acta Neurologica Scandinavica. 2013 ; Vol. 128, No. 6.
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