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Congenital myopathies are mainly associated with a mild cardiac phenotype

  • Helle PetriEmail author
  • Karim Wahbi
  • Nanna Witting
  • Lars Køber
  • Henning Bundgaard
  • Emna Kamoun
  • Geoffroy Vellieux
  • Tanya Stojkovic
  • Anthony Béhin
  • Pascal Laforet
  • John Vissing
Original Communication
  • 23 Downloads

Abstract

Background

To evaluate the prevalence of cardiac involvement in patients with congenital myopathies and the association to specific genotypes.

Methods

We evaluated patients with physical examination, electrocardiogram, echocardiography, and 48-h Holter monitoring. Follow-up was performed for major events.

Results

We included 130 patients, 55 men (42%), with a mean age of 34 ± 17 years. A genetic diagnosis was established in 97 patients (75%). Right bundle branch block was observed in three patients: 2/34 patients with a ryanodine receptor 1 (RYR1) and 1/6 with a tropomyosin two gene (TPM2) gene mutation. Echocardiography showed left-ventricular hypertrophy in five patients: 2/17 and 3/34 patients with a Dynamin 2 (DNM2) and a RYR1 mutation, respectively. One patient with a myosin heavy-chain (MYH7) mutation had dilated cardiomyopathy and heart failure. On Holter monitoring, frequent ventricular premature contractions were observed in one patient with a DNM2 mutation. Two patients with a TPM2 and a RYR1 mutation, respectively, had a single short run of non-sustained ventricular tachycardia. Atrioventricular nodal re-entry tachycardia was observed in a 20-year-old man with an actin 1 gene mutation. During follow-up (median 8.4 years), four patients died, all of non-cardiac causes.

Conclusion

Congenital myopathies are generally associated with a mild cardiac phenotype. Our findings substantiate the literature and indicate that, except for patients with specific genotypes, such as MYH7 and TTN mutations, repeated cardiac assessments can be minimized, given a normal initial cardiac screening at time of diagnosis.

Keywords

Congenital myopathies Arrhythmia Echocardiography Heart failure 

Notes

Funding

This work was supported by The Research Foundation of Rigshospitalet, The Danish Heart Foundation, The Lundbeck Foundation, and The Stibo Foundation.

Compliance with ethical standards

Conflicts of interest

On behalf of all authors, the corresponding author states that there is no conflict of interest.

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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  • Helle Petri
    • 1
    Email author
  • Karim Wahbi
    • 2
  • Nanna Witting
    • 3
  • Lars Køber
    • 1
  • Henning Bundgaard
    • 1
  • Emna Kamoun
    • 4
  • Geoffroy Vellieux
    • 4
  • Tanya Stojkovic
    • 4
  • Anthony Béhin
    • 4
  • Pascal Laforet
    • 5
    • 6
  • John Vissing
    • 3
  1. 1.Department of CardiologyCopenhagen University Hospital RigshospitaletCopenhagenDenmark
  2. 2.APHP, Cochin Hospital, Cardiology Department, Centre de Référence de Pathologie, Neuromusculaire Nord/Est/Ile de France, Paris-DescartesSorbonne Paris Cité UniversityParisFrance
  3. 3.Department of NeurologyCopenhagen University HospitalCopenhagenDenmark
  4. 4.Myology Institute, Nord/Est/Ile de France Neuromuscular CenterPitié-Salpêtière hospital, APHPParisFrance
  5. 5.Neurology Department, Nord/Est/Ile de France Neuromuscular CenterRaymond Poincaré Teaching Hospital, APHPGarchesFrance
  6. 6.END-ICAPINSERM U1179, Université Versailles Saint-Quentin-en-YvelinesMontigny-le-BretonneuxFrance

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