Helle Petri1, Karim Wahbi2, Nanna Witting3, Lars Køber4, Henning Bundgaard4, Emna Kamoun5, Geoffroy Vellieux5, Tanya Stojkovic5, Anthony Béhin5, Pascal Laforet6,7, John Vissing3. 1. Department of Cardiology, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark. Hellepetri1@gmail.com. 2. APHP, Cochin Hospital, Cardiology Department, Centre de Référence de Pathologie, Neuromusculaire Nord/Est/Ile de France, Paris-Descartes, Sorbonne Paris Cité University, 75006, Paris, France. 3. Department of Neurology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark. 4. Department of Cardiology, Copenhagen University Hospital Rigshospitalet, Copenhagen, Denmark. 5. Myology Institute, Nord/Est/Ile de France Neuromuscular Center, Pitié-Salpêtière hospital, APHP, Paris, France. 6. Neurology Department, Nord/Est/Ile de France Neuromuscular Center, Raymond Poincaré Teaching Hospital, APHP, 92380, Garches, France. 7. END-ICAP, INSERM U1179, Université Versailles Saint-Quentin-en-Yvelines, Montigny-le-Bretonneux, France.
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.
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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