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Master Thesis

Atteintes ventriculaires droites liées aux laminopathies : prévalence et pronostic dans une cohorte de 138 patients

Abstract : Introduction: Laminopathies are rare genetic diseases, with various clinical manifestations. Cardiac involvement may include conduction disorders, rhythm disorders and cardiomyopathy with left ventricular dysfunction. Right ventricular dysfunction is correlated with a poor prognosis in other cardiopathies. Our aim is to study the prevalence of right ventricular involvement in laminopathies and the influence on the outcome. Methods and Results: We followed a 138 patients cohort who carried LMNA gene mutations. 18 patients (13%) presented right ventricular systolic dysfunction with clinical heart failure, among which 9 (6.5%) had no associated left ventricular dysfunction. Right ventricular involvement was associated with the presence of truncating mutations (44% vs 22%, p = 0.04) and extracardiac manifestations (94.4% vs 72.5%, p=0.04); Follow-up revealed more deaths (44% vs 17%, p <0.001), end-stage heart failure (56% vs 11%, p<0.001), non-sustained ventricular tachycardia (50% vs 18%, p <0.001), sustained ventricular tachycardia (56% vs. 17%, p<0.001), supraventricular tachycardias (94% vs 49%, p <0.001), and sinus dysfunction (33% vs. 7%, p<0.001). Conclusion: Right ventricular dysfunction may occur in laminopathies, even without left ventricular dysfunction, and is associated with a poor prognosis and a high risk of rapid evolution to end-stage heart failure. Conduction disorders and arrhythmias were particularly frequent. Lamin mutation carriers should have a regular evaluation of their right ventricular function.
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Master Thesis
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Submitted on : Friday, October 23, 2015 - 4:08:55 PM
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  • HAL Id : dumas-01219976, version 1


Guillaume Durand-Viel. Atteintes ventriculaires droites liées aux laminopathies : prévalence et pronostic dans une cohorte de 138 patients. Médecine humaine et pathologie. 2015. ⟨dumas-01219976⟩



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