The correlation and the prognostic impact of respiratory and heart impairment in type 2C and 2D limb girdle muscular dystrophies (LGMD) are poorly described. This study aimed to describe the long-term cardiac and respiratory follow-up of LGMD patients and to determine predictive factors of cardio-respiratory events and mortality in LGMD 2C and 2D. The charts of 34 LGMD patients, followed from 2005 to 2015, were reviewed to obtain echocardiographic, respiratory function and sleep recording data. 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 <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.
>Full text
Fayssoil A, Ogna A, Chaffaut C, et al. 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. PLoS One. 2016 Apr 27;11(4):e0153095.
