Natural History of Cardiac and Respiratory Involvement, Prognosis and Predictive Factors for Long-Term Survival in Adult Patients with Limb Girdle Muscular Dystrophies Type 2C and 2D

• Published in: PloS one 2016-04, Vol.11 (4), p.e0153095
• Main Authors: Fayssoil, Abdallah, Ogna, Adam, Chaffaut, Cendrine, Chevret, Sylvie, Guimarães-Costa, Raquel, Leturcq, France, Wahbi, Karim, Prigent, Helene, Lofaso, Frederic, Nardi, Olivier, Clair, Bernard, Behin, Anthony, Stojkovic, Tanya, Laforet, Pascal, Orlikowski, David, Annane, Djillali
• Format: Article
• Language: English
• Subjects: Adult; Arrhythmia; Arrhythmias, Cardiac - pathology; Atelectasis; Biology and Life Sciences; Cardiomyopathies - pathology; Cardiomyopathy; Care and treatment; Charts; Conduction; Diagnosis; Female; Heart; Heart - physiopathology; Heart diseases; Human health and pathology; Humans; Ischemia; Life expectancy; Life Sciences; Male; Mechanical ventilation; Medical prognosis; Medicine and Health Sciences; Morbidity; Mortality; Muscles; Muscular Dystrophies, Limb-Girdle - pathology; Muscular dystrophy; Mutation; Myocardial diseases; Myopathy; Nerve conduction; Neuromuscular diseases; Patients; People and Places; Physiological aspects; Pneumothorax; Pressure; Prognosis; Respiration; Respiratory failure; Respiratory function; Respiratory Insufficiency - pathology; Respiratory muscles; Respiratory Muscles - pathology; Risk factors; Sarcoglycanopathies - pathology; Sepsis; Sleep; Stroke; Survival; Ventilation; Ventricle; Vital Capacity - physiology
• ISSN: 1932-6203; 1932-6203
• DOI: 10.1371/journal.pone.0153095

Type 2C and 2D limb girdle muscular dystrophies (LGMD) are a group of autosomal recessive limb girdle muscular dystrophies manifested by proximal myopathy, impaired respiratory muscle function and cardiomyopathy. The correlation and the prognostic impact of respiratory and heart impairment are poorly described. We aimed to describe the long-term cardiac and respiratory follow-up of these patients and to determine predictive factors of cardio-respiratory events and mortality in LGMD 2C and 2D. We reviewed the charts of 34 LGMD patients, followed from 2005 to 2015, to obtain echocardiographic, respiratory function and sleep recording data. We considered respiratory events (acute respiratory failure, pulmonary sepsis, atelectasis or pneumothorax), cardiac events (acute heart failure, significant cardiac arrhythmia or conduction block, ischemic stroke) and mortality as outcomes of interest for the present analysis. A total of 21 patients had type 2C LGMD and 13 patients had type 2D. Median age was 30 years [IQR 24-38]. At baseline, median pulmonary vital capacity (VC) was 31% of predicted value [20-40]. Median maximal inspiratory pressure (MIP) was 31 cmH2O [IQR 20.25-39.75]. Median maximal expiratory pressure (MEP) was 30 cm H2O [20-36]. Median left ventricular ejection fraction (LVEF) was 55% [45-64] with 38% of patients with LVEF