Abstract 12183: What About A Distinct Form Of Advanced Cardiomyopathy In Mucoviscidosis?
Back since the seventies, occasional cases of cardiomyopathy (CMP) were described in patients with mucoviscidosis (MV). Necropsies of sudden death MV children showed dilated left hearts with patchy myocardial fibrosis. Today most MV patients reach adulthood, yet the incidence and features of CMP in them are unknown.
Methods: We describe the study of 8 adult patients with MV and left ventricular (LV) systolic dysfunction; 3 of them referred to our centre for cardiopulmonary transplantation and 5 found in a longitudinal study of 123 MV patients without known heart disease. We include their clinical evaluation, blood tests, cardiac ultrasound and magnetic resonance (MRI). Histological findings of the three explanted hearts are described. The remaining 115 patients without CMP stand as the control group.
Results: The mean age of the 8 CMP patients was 29±6 years; 5 were male and a 30% of them had del508 mutation. Their mean LV ejection fraction was 37±10% (vs 66±8% in controls; p<0.01); a 37.5% had a diastolic dysfunction (vs 6% in controls; p<0.01). Mean proBNP in MV patients with CMP was 1498±3219 pg/ml (vs 58±45 pg/ml in controls, p<0.001). MRI showed a patchy delayed myocardial gadolinium uptake in 38% of CMP patients (n=6) vs 0/24 among controls, p=0.02. Pathology of the 3 explanted hearts showed patchy myocardial fibrosis in all cases, a finding similar to the autopsies of Keshan's disease. All of the patients with CMP and pancreatic exocrine deficiency needed a daily high-dose pancreatic enzyme therapy (vs 33% in the control group, p=0.01), and 75% had a body mass index <20 kg/m2 (vs 26% among controls; p=0.01). The mean FEV1% for the 8 patients was 37±20% (vs 61±22% for controls; p=0.02). All of them had a permanent airway colonization by Pseudomonas (vs 56% among controls, p<0.001).
Conclusions: A small percentage of adult MV patients have a specific CMP with a unique patchy myocardial fibrosis, a finding similar to the classical autopsies of children with CF and other malnourishment syndromes. CMP should be ruled out in MV patients with either severe malnutrition or pulmonary affectation, by non-invasive tools such as ProBNP and echocardiography.
- © 2012 by American Heart Association, Inc.