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Natriuretic Peptides Assessment in Dilated Cardiomyopathy in Patients with Emery-Dreifuss Muscular Dystrophy

Irena M. Niebroj-Dobosz, Beata Sokołowska, Agnieszka Madej-Pilarczyk, Michał Marchel and Irena Hausmanowa-Petrusewicz

Introduction: Levels of natriuretic peptides in blood are often tested for as screening for heart disease and their progress assessed. Dilated cardiomyopathy (DCM) with conduction disturbances is one of the leading serious manifestations in genetically transmitted Emery-Dreifuss muscular dystrophy (EDMD). However, the potential significance of and variability to brain-natriuretic peptides (BNP) and atrial-natriuretic peptides (ANP) in this disease has not been tested hitherto. It seemed worth considering whether estimation of natriuretic peptides might help in defining cardiac dysfunction in the early stages of the disease, prior to the appearance of echocardiographic changes. This is perceived especially important in cardiologically asymptomatic patients, who are still at risk of cardiac sudden death. Patients and Methods: Serum levels of BNP, NT-proBNP, ANP and NT-proANP were quantified by ELISA sandwich immunoassay in 25 EDMD patients (10 autosomal-dominant AD-EDMD, 15 X-linked EDMD), 8 X-EDMD carriers, 9 patients with dystrophinopathy as disease controls, and 20 age-matched healthy controls. Results: Serum levels of BNP, NT-pro-BNP, ANP, and NT-proANP were elevated in the blood of about 50% of patients with both the AD-EDMD and the X-EDMD form. Values were distributed from normal through to highly elevated. In the X-EDMD group there was a marked increase in the ANP and NT-proANP values. The X-EDMD group also manifested a correlation between level of atrial natriuretic peptides, echocardiographic parameters and severity of cardiac symptoms. Conclusions: The presented results indicate that assessment of circulating natriuretic peptides is of limited value in identifying cardiac involvement in EDMD. However, when included to the panel of other cardiologic biomarkers the estimation of natriuretic peptides may offer additional information in respect of proper diagnosis, prognosis, monitoring of appropriate treatment, prediction of outcome. and help to prevent cardiac decompensation and sudden death.