title: On a case of respiratory failure due to diaphragmatic paralysis and dilated cardiomyopathy in a patient with nemaline myopathy.
abstract: Nemaline myopathy is a rare congenital disease that generally occurs in childhood. We report a case of a 50-year-old man who presented with severe heart failure as the initial manifestation of nemaline myopathy. Soon after he developed acute restrictive respiratory failure due to the diaphragmatic paralysis. The diagnosis of "nemaline myopathy" was obtained on muscle biopsy performed one year later. After starting appropriate cardiological treatment and non-invasive ventilation, his cardiac and pulmonary functions improved substantially, remaining stable for over the 10 years since diagnosis. In the last two years the patient had a progressive deterioration of respiratory function, enabling him to attend daily activities. Few cases of respiratory failure in patients with adult-onset nemaline myopathy are reported, but the insidious onset in this case is even more unusual. This case highlights the wide spectrum of presenting features of adult-onset nemaline myopathy and the temporary efficacy of non invasive ventilation on respiratory function.
authors.affiliation: Cardiomyology and Medical Genetics, Department of Experimental Medicine, Second University of Naples, Italy.
authors.forename: Antonella
authors.initials: A
authors.lastname: Taglia
authors.forename: Paola
authors.initials: P
authors.lastname: D'Ambrosio
authors.forename: Alberto
authors.initials: A
authors.lastname: Palladino
authors.forename: Luisa
authors.initials: L
authors.lastname: Politano
mesh_terms: D017668:Age of Onset; D002311:Cardiomyopathy, Dilated / Q000150:complications*; D006801:Humans; D008297:Male; D008875:Middle Aged; D017696:Myopathies, Nemaline / Q000150:complications* / Q000453:epidemiology; D012131:Respiratory Insufficiency / Q000209:etiology*; D012133:Respiratory Paralysis / Q000209:etiology*
keywords: Nemaline myopathy; heart failure; respiratory failure