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01-06-2019 | Echocardiography | Original Communication

Congenital myopathies are mainly associated with a mild cardiac phenotype

Authors: Helle Petri, Karim Wahbi, Nanna Witting, Lars Køber, Henning Bundgaard, Emna Kamoun, Geoffroy Vellieux, Tanya Stojkovic, Anthony Béhin, Pascal Laforet, John Vissing

Published in: Journal of Neurology | Issue 6/2019

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.

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Title: Congenital myopathies are mainly associated with a mild cardiac phenotype
Authors: Helle Petri
Karim Wahbi
Nanna Witting
Lars Køber
Henning Bundgaard
Emna Kamoun
Geoffroy Vellieux
Tanya Stojkovic
Anthony Béhin
Pascal Laforet
John Vissing
Publication date: 01-06-2019
Publisher: Springer Berlin Heidelberg
Keywords: Echocardiography
Diseases of the neuromuscular synapses and muscles
Heart Failure
Echocardiography
Myopathy
Published in: Journal of Neurology / Issue 6/2019
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-019-09267-3

At a glance: The STEP trials

Springer Medicine

Congenital myopathies are mainly associated with a mild cardiac phenotype

Abstract

Background

Methods

Results

Conclusion

At a glance: The STEP trials

Springer Medicine

Abstract

Background

Methods

Results

Conclusion

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