Clinical profiles and prognosis of acute heart failure in adult patients with dystrophinopathies on home mechanical ventilation

Abstract

AimsDuchenne muscular dystrophy (DMD) is characterized by respiratory and heart involvements. In the context of permanently wheelchair bound and on mechanical ventilation (MV) patients, the clinical presentation of acute heart failure (AHF) syndrome may be atypical. We sought to describe clinical and genetic profiles and to determine prognosis of DMD and Becker muscular dystrophy (BMD) patients on home MV (HMV), hospitalized for AHF.Methods and resultsWe included genetically proven DMD and BMD patients on HMV admitted for AHF. A total of 13 patients (11 DMD and 2 BMD) fulfilled the inclusion criteria. Median age was 34.0 [interquartile range (IQR) 26.0; 40.0] years. Median pulmonary vital capacity was 9.0% (6.0; 15.0) of predicted value. Long‐term invasive ventilation was performed in 69% of patients. All the 11 DMD patients carried out‐of‐frame DMD gene mutations. At admission, dyspnoea was present in 46%, lipothymia in 23%, and abdominal discomfort in 38.4% of patients. A total of 53.8% of patients showed anasarca. Cardiogenic shock presentation was found in six patients (46%). Ejection fraction was severely altered [median 25% (IQR 20; 30)]. Intra‐hospital mortality rate was 30%, reaching 53.8 % after 1 year. Previous episodes of AHF ≥ 2 were associated with intra‐hospital mortality (P = 0.025). In patients with cardiogenic shock, intra‐hospital mortality rate was 66.6%, reaching 83.3% after 1 year.ConclusionsIn adult DMD and BMD patients with severe ejection fraction alteration and on HMV, admitted for AHF, right cardiac signs are frequent. The intra‐hospital and 1 year mortality rate was high and was associated with previous episodes of AHF ≥ 2.

Accuracy of B-natriuretic peptide for the diagnosis of decompensated heart failure in muscular dystrophies patients with chronic respiratory failure

“…16 Other non-cardiac factors may increase modestly the BNP level, including chronic obstructive pulmonary disease, pulmonary embolism, pulmonary hypertension, pneumonia, atrial fibrillation, acute coronary syndrome. 17 However, in our study, median BMI was 19 kg/m 2 and gender was mainly male. No patient experienced chronic renal failure.…”

“…Cardiac symptoms are subtle and nonspecific 1 and the presence of mechanical ventilation may provide respiratory clinical picture modifications. 2 In this difficult clinical context, biomarkers could represent an interesting tool to help bedside decision making. Brain natriuretic peptide (BNP) is a 32-amino acid protein produced and released by the heart ventricles.…”

Cardiopulmonary phenotypic variability and discordance in Duchenne muscular dystrophy: Implications for new therapies

“…Moreover, we showed that cardiac phenotypic severity is determined by the age at onset of LVD. Even with cardiac medications and assisted ventilation, the slope in the decline in SF did not differ between patients with the milder cardiac phenotype (onset of LVD at age ≥ 18 years) compared to patients with the severe cardiac phenotype (onset of LVD at age < 18 years) More acutely, DMD patients who have progressed to CHF have been shown to have very poor survival, even when treated with chronic mechanical ventilation and cardiac medications, with an intrahospital mortality rate of 30% in one study, reaching almost 54% after 1 year 23 . Similarly, we found that despite treatment with cardiac medications and assisted ventilation, mean survival was just 8 months in our DMD patients once they developed CHF 15 …”

Risk factors for hospital readmission of patients with heart failure: A cohort study

“…It has been shown in two previous studies that bed rest and limited activity are detrimental to exercise tolerance and aerobic capacity while exercise training improves vasodilatation and muscle oxidative capacity in patients with HF. [ 25 26 ]…”