Cardiovascular manifestations are common in Marfan syndrome (MFS) patients. The presence of cardiomyopathy without significant valve disease or previous aortic or cardiac surgery has been identified before.
Our aim was to investigate the prevalence of Left ventricular disfunction in a selected sub cohort of our MFS patients using cardiac magnetic resonance (CMR).
We retrospectively evaluated 90 consecutive patients seen in the Aortopathy clinic who had a CMR. Patient with significant valve dysfunction, previous cardiac or aortic surgery and age =17 years old were excluded. 49 MFS patients who met the Ghent criteria were included. Using CMR Left ventricular (LV) volumes, ejection fraction (EF), stroke volume (SV) and mass were assessed with the standard protocols as well aortic dimensions, presence of valve disease and Late Gadolinium Enhancement (LGE). LV dysfunction was defined as left ventricular ejection fraction =56%.
49 patients were studied, 27 male (55.1%) with a mean population age of 39.9 ± 14 years old. The LV end-diastolic volume (LVEDV) mean was 154.1 ± 36.3 ml with a LVEDV indexed of 78 ± 15.7 ml/m2, LVESV 58.8 ± 18.6 ml, LVESV index 48.5 ± 10 ml/m2, LVEF was 62.8 ± 6.9%, SV 95.77 ± 22.3 ml, SV index 48.5 ± 10 ml/m2, and aortic root diameter was 40 ± 4.7 mm.
LV dysfunction was present in 6 patients (12.2%), which was associated with lower SV and SV index compared with 43 patients (87%) with normal LVEF (SV 71.2 ± 15.5 ml vs 99.3 ± 21.1 ml (p=0.003); SV index 36.7 ± 10.3 ml/m2 vs 50.3 ± 8.7 ml/m2 (p=0.001)). There were no differences found in gender, age, LV or atrial volumes or AoR dimension between the 2 groups.
11 Patients (22.4%) had LVEDV indexed =75th percentile (=182 ml/m2). None of them had LV dysfunction (fig1). Comparing patients with LVEDV indexed =75th percentile to those with <75th percentile the SV was 126.8 ± 10.2ml vs 86.5 ± 15.6ml (p<0.001) and SV indexed was 58.3 ± 6.9 vs 45.46 ± 8.9 ml/m2 (p<0.001) respectively.
In our subgroup of MFS with mildly dilated AoR the presence of Left ventricular dysfunction was 12.2%. This was associated with lower SV and SV index. None of the patients with LVEDV indexed =75th percentile (=182 ml/m2) had LVEF dysfunction. No myocardial enhancement was seen in patients who had LGE study.