Natural history of cardiac function in Duchenne and Becker muscular dystrophies on home mechanical ventilation

Abstract

Heart impairment is classical in dystrophinopathies and its management relies on medical drugs. Mechanical ventilation is used to treat respiratory failure, but can affect cardiac function. We aimed to investigate the natural history of cardiac function in patients with Duchenne (DMD) and Becker (BMD) muscular dystrophies on home mechanical ventilation (HMV).We reviewed the chart of DMD and BMD patients, followed in our institution, to obtain ventilation setting at HMV initiation and echocardiographic data at baseline and end follow up, as well as onset cardiac events and thoracic mechanical complication. We analyzed cumulative incidence of cardiac events as well as echocardiographic parameters evolution and its association with ventilation settings.We included 111 patients (101 DMD and 10 BMD). Median age was 21 years [18–26], median pulmonary vital capacity (VC) 15% of predicted [10–24]. All patients were on HMV and 46% ventilated using tracheostomy. After a median follow up of 6.3 years, we found a slight decrease of the left ventricular ejection fraction (LVEF) (45% at end follow up vs 50% at baseline P = .019) and a stabilization of the LV end diastolic diameter indexed (LVEDD indexed 29.4 mm/m2 vs 30.7 mm/m2 at end follow up, P = .17). Tidal volume (VT) level was inversely associated with the annual rate of the LVEF decline (r = −0.29, P = .025). Left atrium (LA) diameter decreased with mechanical ventilation (24 mm vs 20 mm, P = .039) and we found a reduction of systolic pulmonary pressure (35 mm Hg vs 25 mm Hg, P = .011). The cumulative incidence of cardiac events was 12.6%. Pneumothorax occurred in 4% of patients. Hypoxic arrest secondary to the presence of tracheal plugin occurred in 4% of patients with invasive ventilation.HMV is not harmful, decreases pulmonary pressure and may protect heart in dystrophinopathies, in addition with cardioprotective drugs. In patients with DMD and BMD on HMV, cumulative incidence of cardiac events remains moderate and incidence of pneumothorax is rare.

Association between pulmonary function and left ventricular volume and function in duchenne muscular dystrophy

“…Our study results also revealed a significant association between LVEF and lung volumes (FEV1 and FVC) along with a comparable rate of decline between LVEF and PFTs, in line with previous findings. 29 The limitations of this study include a small sample and short time intervals between the first and final visits. Systemic steroids are known to help preserve lung functions.…”

“…Positive end‐expiratory pressure (PEEP) has been considered as a therapeutic option because PEEP can counteract intrathoracic volume loss and LV filling defect . Fayssoil et al . reported that patients with DMD with severe restrictive lung disease were also susceptible to LV systolic dysfunction and that, at lower tidal volume, LVEF declined rapidly.…”

“…filling defect. 11,28 Fayssoil et al 29 reported that patients with DMD with severe restrictive lung disease were also susceptible to LV systolic dysfunction and that, at lower tidal volume, LVEF declined rapidly. Our study results also revealed a significant association between LVEF and lung volumes (FEV1 and FVC) along with a comparable rate of decline between LVEF and PFTs, in line with previous findings.…”

Liberation and mortality outcomes in pediatric long‐term ventilation: A qualitative systematic review

“…Only 24 papers studied more than 100 patients. 2,4,5,20,29,[32][33][34][35][36][37][38][39][40][41][42][43][44][45][46][47][48][49][50] Of the 12 704 patients, 37% could be categorized as having ventilatory muscle weakness, 14% with chronic pulmonary disease, 10% with central hypoventilation, 9% with airway abnormalities, 6% with genetic/metabolic syndromes, 1% with cardiac/congenital heart disease, and 3% other/combined. Twenty percent of patients did not have a diagnosis reported.…”

The Value of Imaging and Composition-Based Biomarkers in Duchenne Muscular Dystrophy Clinical Trials

“…While DMD is classically considered an X-linked recessive disease, the prevalence of de novo mutations has increased to 32 to 46% as routine anticipatory genetic counseling has decreased the incidence of DMD in families already affected by the disease [11]. Though classically seen to affect skeletal muscle, eventually, all muscles are affected, including respiratory, cardiac, and GI musculature [4,7,[12][13][14]. Diagnosis of DMD is presumptively made based on clinical presentation, with confirmation by genetic testing, and by biopsy if genetic tests are non-confirmatory [6,15].…”