Korean Circ J.  2014 Sep;44(5):348-350. 10.4070/kcj.2014.44.5.348.

Intermittent Pre-Excitation-Syndrome in Facio-Scapulo-Humeral Muscular Dystrophy

Affiliations
  • 1Krankenanstalt Rudolfstiftung, Vienna, Austria. fifigs1@yahoo.de
  • 2Second Medical Department, Krankenanstalt Rudolfstiftung, Vienna, Austria.
  • 3Institute of Human Genetics, University Hospital Magdeburg, Magdeburg, Germany.

Abstract

Pre-excitation-syndrome has not been reported as a phenotypic feature of facio-scapulo-humeral muscular dystrophy (FSH-MD). In a 39-year-old male with FSH-MD due to a reduced tandem repeat size in the D4Z4-locus on chromosome 4q35, cardiac involvement, manifesting as an incomplete right bundle-branch-block, tall T-waves in V 3-5, ST-elevation in V 2-4, and mild thickening of the left ventricular myocardium, was first recognised 10 years earlier. Follow-up at age 39 years revealed mild myocardial thickening, two intra-ventricular aberrant bands, and, surprisingly, intermittent pre-excitation on a routine electrocardiography. Cardiac involvement in FSH-MD may manifest as hypertrophic cardiomyopathy or various arrhythmias, of which one may be pre-excitation-syndrome.

Keyword

Heart; Muscular dystrophy, Fasuoscapulohumerales; Arrhythmia; Pre-excitation syndromes; Cardiomyopathies

MeSH Terms

Adult
Arrhythmias, Cardiac
Cardiomyopathies
Cardiomyopathy, Hypertrophic
Electrocardiography
Follow-Up Studies
Heart
Humans
Male
Muscular Dystrophies*
Myocardium
Pre-Excitation Syndromes
Tandem Repeat Sequences

Figure

  • Fig. 1 Hybridization of a southern blot of the patient's DNA with radioactively labelled probe p13E-11 (D4F104S1); lane 1: DNA cleaved by Eco RI, lane 2: DNA cleaved by Eco RI+Bln I, lane 3: Lambda Mix Marker, 19 (Thermo Scientific Molecular Biology).

  • Fig. 2 Routine electrocardiography showing intermittent pre-excitation-syndrome interrupted by QRS-complexes without delta-wave. Three beats are normally conducted (arrows).


Reference

1. Finsterer J, Stöllberger C. Primary myopathies and the heart. Scand Cardiovasc J. 2008; 42:9–24.
2. Shigeto H, Tamura T, Oya Y, Ogawa M, Kawai M. [Facioscapulohumeral muscular dystrophy with sinus dysfunction]. Rinsho Shinkeigaku. 2002; 42:881–884.
3. Stevenson WG, Perloff JK, Weiss JN, Anderson TL. Facioscapulohumeral muscular dystrophy: evidence for selective, genetic electrophysiologic cardiac involvement. J Am Coll Cardiol. 1990; 15:292–299.
4. Laforêt P, de Toma C, Eymard B, et al. Cardiac involvement in genetically confirmed facioscapulohumeral muscular dystrophy. Neurology. 1998; 51:1454–1456.
5. Trevisan CP, Pastorello E, Armani M, et al. Facioscapulohumeral muscular dystrophy and occurrence of heart arrhythmia. Eur Neurol. 2006; 56:1–5.
6. Berlit P, Stegaru-Hellring B. The heart in muscular dystrophy: an electrocardiographic and ultrasound study of 20 patients. Eur Arch Psychiatry Clin Neurosci. 1991; 241:177–180.
7. Faustmann PM, Farahati J, Rupilius B, Dux R, Koch MC, Reiners C. Cardiac involvement in facio-scapulo-humeral muscular dystrophy: a family study using Thallium-201 single-photon-emission-computed tomography. J Neurol Sci. 1996; 144:59–63.
8. Kilmer DD, Abresch RT, McCrory MA, et al. Profiles of neuromuscular diseases. Facioscapulohumeral muscular dystrophy. Am J Phys Med Rehabil. 1995; 74:5 Suppl. S131–S139.
9. Galetta F, Franzoni F, Sposito R, et al. Subclinical cardiac involvement in patients with facioscapulohumeral muscular dystrophy. Neuromuscul Disord. 2005; 15:403–408.
10. Topaloğlu H, Celiker A, Ozme S, et al. Facioscapulohumeral syndrome with cardiomyopathy. Postgrad Med J. 1990; 66:1088–1089.
Full Text Links
  • KCJ
Actions
Cited
CITED
export Copy
Close
Share
  • Twitter
  • Facebook
Similar articles
Copyright © 2024 by Korean Association of Medical Journal Editors. All rights reserved.     E-mail: koreamed@kamje.or.kr