Congenital myopathies are mainly associated with a mild cardiac phenotype View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2019-03-14

AUTHORS

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

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. More... »

PAGES

1-9

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s00415-019-09267-3

DOI

http://dx.doi.org/10.1007/s00415-019-09267-3

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1112759567

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/30874888


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