Abstract
BackgroundType 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.MethodsWe 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.ResultsA 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 <50%. Over a median follow-up of 6 years, we observed 38% respiratory events, 14% cardiac events and 20% mortality. Among baseline characteristics, LVEF and left ventricular end diastolic diameter (LVEDD) were associated with mortality, whilst respiratory parameters (VC, MIP, MEP) and the need for home mechanical ventilation (HMV) were associated with respiratory events.ConclusionIn our cohort of severely respiratory impaired type 2C and 2D LGMD, respiratory morbidity was high. Cardiac dysfunction was frequent in particular in LGMD 2C and had an impact on long-term mortality.Trial RegistrationClinicalTrials.gov NCT02501083
Highlights
We reviewed the charts of 34 limb girdle muscular dystrophies (LGMD) patients, followed from 2005 to 2015, to obtain echocardiographic, respiratory function and sleep recording data
Type 2C and 2D limb girdle muscular dystrophies (LGMD) are autosomal recessive muscular dystrophies that belong to the group of sarcoglycanopathies (SG)
The related impact on respiratory function and the presence of cardiomyopathy are associated with reduced life expectancy, in Duchenne muscular dystrophy (DMD) [4] where respiratory failure is a leading cause of morbidity and mortality [5]
Summary
Type 2C and 2D limb girdle muscular dystrophies (LGMD) are autosomal recessive muscular dystrophies that belong to the group of sarcoglycanopathies (SG). They are characterized by mutations in the genes encoding sarcoglycans. The related impact on respiratory function and the presence of cardiomyopathy are associated with reduced life expectancy, in Duchenne muscular dystrophy (DMD) [4] where respiratory failure is a leading cause of morbidity and mortality [5]. 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. 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
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