Cargando…

On a case of respiratory failure due to diaphragmatic paralysis and dilated cardiomyopathy in a patient with nemaline myopathy

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 p...

Descripción completa

Detalles Bibliográficos
Autores principales: TAGLIA, ANTONELLA, D'AMBROSIO, PAOLA, PALLADINO, ALBERTO, POLITANO, LUISA
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pacini Editore SpA 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3631801/
https://www.ncbi.nlm.nih.gov/pubmed/23620652
_version_ 1782266804830208000
author TAGLIA, ANTONELLA
D'AMBROSIO, PAOLA
PALLADINO, ALBERTO
POLITANO, LUISA
author_facet TAGLIA, ANTONELLA
D'AMBROSIO, PAOLA
PALLADINO, ALBERTO
POLITANO, LUISA
author_sort TAGLIA, ANTONELLA
collection PubMed
description 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.
format Online
Article
Text
id pubmed-3631801
institution National Center for Biotechnology Information
language English
publishDate 2012
publisher Pacini Editore SpA
record_format MEDLINE/PubMed
spelling pubmed-36318012013-04-25 On a case of respiratory failure due to diaphragmatic paralysis and dilated cardiomyopathy in a patient with nemaline myopathy TAGLIA, ANTONELLA D'AMBROSIO, PAOLA PALLADINO, ALBERTO POLITANO, LUISA Acta Myol Case Report 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. Pacini Editore SpA 2012-12 /pmc/articles/PMC3631801/ /pubmed/23620652 Text en The journal and the individual contributions contained in it are protected by the copyright of Gaetano Conte Academy, Naples, Italy http://creativecommons.org/licenses/by-nc-nd/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial No Derivatives License, which permits for noncommercial use, distribution, and reproduction in any digital medium, provided the original work is properly cited and is not altered in any way. For details, please refer to http://creativecommons.org/licenses/by-nc-nd/3.0/
spellingShingle Case Report
TAGLIA, ANTONELLA
D'AMBROSIO, PAOLA
PALLADINO, ALBERTO
POLITANO, LUISA
On a case of respiratory failure due to diaphragmatic paralysis and dilated cardiomyopathy in a patient with nemaline myopathy
title On a case of respiratory failure due to diaphragmatic paralysis and dilated cardiomyopathy in a patient with nemaline myopathy
title_full On a case of respiratory failure due to diaphragmatic paralysis and dilated cardiomyopathy in a patient with nemaline myopathy
title_fullStr On a case of respiratory failure due to diaphragmatic paralysis and dilated cardiomyopathy in a patient with nemaline myopathy
title_full_unstemmed On a case of respiratory failure due to diaphragmatic paralysis and dilated cardiomyopathy in a patient with nemaline myopathy
title_short On a case of respiratory failure due to diaphragmatic paralysis and dilated cardiomyopathy in a patient with nemaline myopathy
title_sort on a case of respiratory failure due to diaphragmatic paralysis and dilated cardiomyopathy in a patient with nemaline myopathy
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3631801/
https://www.ncbi.nlm.nih.gov/pubmed/23620652
work_keys_str_mv AT tagliaantonella onacaseofrespiratoryfailureduetodiaphragmaticparalysisanddilatedcardiomyopathyinapatientwithnemalinemyopathy
AT dambrosiopaola onacaseofrespiratoryfailureduetodiaphragmaticparalysisanddilatedcardiomyopathyinapatientwithnemalinemyopathy
AT palladinoalberto onacaseofrespiratoryfailureduetodiaphragmaticparalysisanddilatedcardiomyopathyinapatientwithnemalinemyopathy
AT politanoluisa onacaseofrespiratoryfailureduetodiaphragmaticparalysisanddilatedcardiomyopathyinapatientwithnemalinemyopathy