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May 20, 2014; 82 (20) Article

Brugada syndrome in spinal and bulbar muscular atrophy

Amane Araki, Masahisa Katsuno, Keisuke Suzuki, Haruhiko Banno, Noriaki Suga, Atsushi Hashizume, Tomoo Mano, Yasuhiro Hijikata, Hideaki Nakatsuji, Hirohisa Watanabe, Masahiko Yamamoto, Takeru Makiyama, Seiko Ohno, Megumi Fukuyama, Shin-ichiro Morimoto, Minoru Horie, Gen Sobue
First published April 23, 2014, DOI: https://doi.org/10.1212/WNL.0000000000000434
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Abstract

Objective: The aim of this study was to clarify myocardial involvement and its clinical implications in subjects with spinal and bulbar muscular atrophy (SBMA), a neuromuscular disease affecting both neuronal and nonneuronal tissues.

Methods: Two independent cardiologists evaluated ECGs from a total of 144 consecutive subjects with SBMA. We performed immunohistochemical, immunoblot, and quantitative real-time PCR analyses of autopsied myocardium.

Results: Abnormal ECGs were detected in 70 (48.6%) of 144 subjects. The most frequent findings were ST-segment abnormalities in V1–3 (19.4%), followed by ST-segment abnormalities in V5–6 (18.1%). We detected Brugada-type ECGs in 17 of 28 subjects with ST-segment abnormalities in V1–3. Of those, one subject presented with syncope that required an implantable cardioverter defibrillator and led to eventual sudden death, and another subject also died suddenly. No subjects with Brugada-type ECGs had mutations in SCN5A, CACNA1C, or CACNB2 genes. In autopsied cases, we detected nuclear accumulation of the mutant androgen receptor protein and decreased expression levels of SCN5A in the myocardium.

Conclusions: Subjects with SBMA often show Brugada-type ECG. The accumulation of the pathogenic androgen receptor may have a role in the myocardial involvement in SBMA.

GLOSSARY

AR=
androgen receptor;
CACNA1C=
calcium channel, voltage-dependent, L type, α 1C subunit;
CACNB2=
calcium channel, voltage-dependent, β 2 subunit;
GAPDH=
glyceraldehyde-3-phosphate dehydrogenase;
HEY2=
hes-related family bHLH transcription factor with YRPW motif 2;
SBMA=
spinal and bulbar muscular atrophy;
SCN5A=
sodium channel, voltage-gated, type V, α subunit;
SCN10A=
sodium channel, voltage-gated, type X, α subunit

Footnotes

  • Go to Neurology.org for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.

  • Supplemental data at Neurology.org

  • Received October 10, 2013.
  • Accepted in final form February 19, 2014.
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