Research
Print page Print page
Switch language
The Capital Region of Denmark - a part of Copenhagen University Hospital
Published

Congenital myopathies are mainly associated with a mild cardiac phenotype

Research output: Contribution to journalJournal articleResearchpeer-review

  1. High-intensity training in patients with spinal and bulbar muscular atrophy

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Relationship between muscle inflammation and fat replacement assessed by MRI in facioscapulohumeral muscular dystrophy

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Guillain-Barré syndrome in Denmark: a population-based study on epidemiology, diagnosis and clinical severity

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Treatment escalation leads to fewer relapses compared with switching to another moderately effective therapy

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. Hydroxylated Long-Chain Acylcarnitines are Biomarkers of Mitochondrial Myopathy

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. MSTO1 mutations cause mtDNA depletion, manifesting as muscular dystrophy with cerebellar involvement

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Association between Type D personality and outcomes in patients with non-ischemic heart failure

    Research output: Contribution to journalJournal articleResearchpeer-review

View graph of relations

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.

Original languageEnglish
JournalJournal of Neurology
Volume266
Issue number6
Pages (from-to)1367-1375
Number of pages9
ISSN0340-5354
DOIs
Publication statusPublished - Jun 2019

ID: 57663193