Left atrial volume changes during exercise stress echocardiography in heart failure and hypertrophic cardiomyopathy

We assessed feasibility and functional correlates of LAVI (left atrial volume index) changes during exercise stress echocardiography (ESE).ESE on bike or treadmill was performed in 363 patients with heart failure with preserved ejection fraction (HFpEF, n = 173), reduced ejection fraction (HFrEF, n = 59) or hypertrophic cardiomyopathy (HCM, n=131). LAVI stress-rest increase ≥ 6.8 ml/m2 was defined as dilation.LAVI measurements were feasible in 100%. LAVI did not change in HFrEF being at rest 32 (25-45) vs. at stress 36 (24 - 54) ml/m2, P = NS and in HCM at rest 35 (26 - 48) vs. at stress 38 (28 - 48) ml/m2, P = NS whereas it decreased in HFpEF from 30 (24 -40) to 29 (21 - 37) ml/m2 at stress, P = 0.007. LA dilation occurred in 107 (30%) patients (27% with treadmill vs. 33% with bike ESE, P = NS): 26 with HFpEF (15%), 26 with HFrEF (44%) and 55 with HCM (42%) with P 14 at rest with OR 4.4, LVEF < 50% with OR 2.9, and LAVI at rest < 35 ml/m2 with OR 2.7.LAVI assessment during ESE was highly feasible and dilation equally frequent with treadmill or bike. LA dilation was threefold more frequent in HCM and HFrEF and could be predicted by increased resting E/e' and impaired EF as well as smaller baseline LAVI

Genetic determinants of clinical phenotype in hypertrophic cardiomyopathy

BackgroundHypertrophic cardiomyopathy (HCM) is the most common inherited cardiovascular disease that affects approximately one in 500 people. HCM is a recognized genetic disorder most often caused by mutations involving myosin-binding protein C (MYBPC3) and beta -myosin heavy chain (MYH7) which are responsible for approximately three-quarters of the identified mutations.MethodsAs a part of the international multidisciplinary SILICOFCM project (www.silicofcm.eu) the present study evaluated the association between underlying genetic mutations and clinical phenotype in patients with HCM. Only patients with confirmed single pathogenic mutations in either MYBPC3 or MYH7 genes were included in the study and divided into two groups accordingly. The MYBPC3 group was comprised of 48 patients (76%), while the MYH7 group included 15 patients (24%). Each patient underwent clinical examination and echocardiography.ResultsThe most prevalent symptom in patients with MYBPC3 was dyspnea (44%), whereas in patients with MYH7 it was palpitations (33%). The MYBPC3 group had a significantly higher number of patients with a positive family history of HCM (46% vs. 7%; p=0.014). There was a numerically higher prevalence of atrial fibrillation in the MYH7 group (60% vs. 35%, p=0.085). Laboratory analyses revealed normal levels of creatinine (85.518.3 vs. 81.3 +/- 16.4 mu mol/l; p=0.487) and blood urea nitrogen (10.2 +/- 15.6 vs. 6.9 +/- 3.9 mmol/l; p=0.472) which were similar in both groups. The systolic anterior motion presence was significantly more frequent in patients carrying MYH7 mutation (33% vs. 10%; p=0.025), as well as mitral leaflet abnormalities (40% vs. 19%; p=0.039). Calcifications of mitral annulus were registered only in MYH7 patients (20% vs. 0%; p=0.001). The difference in diastolic function, i.e. E/e ' ratio between the two groups was also noted (MYBPC3 8.8 +/- 3.3, MYH7 13.9 +/- 6.9, p=0.079).Conclusions Major findings of the present study corroborate the notion that MYH7 gene mutation patients are presented with more pronounced disease severity than those with MYBPC3

Prognostic value of reduced heart rate reserve during exercise in hypertrophic cardiomyopathy

Background: Sympathetic dysfunction can be evaluated by heart rate reserve (HRR) with exercise test. Objectives: To determine the value of HRR in predicting outcome of patients with hypertrophic cardiomyopathy (HCM). Methods: We enrolled 917 HCM patients (age = 49 +/- 15 years, 516 men) assessed with exercise stress echocardiography (ESE) in 11 centres. ESE modality was semi-supine bicycle in 51 patients (6%), upright bicycle in 476 (52%), and treadmill in 390 (42%). During ESE, we assessed left ventricular outflow tract obstruction (LVOTO), stress-induced new regional wall motion abnormalities (RWMA), and HRR (peak/rest heart rate, HR). By selection, all patients completed the follow-up. Mortality was the predetermined outcome measure Results: During ESE, RWMA occurred in 22 patients (2.4%) and LVOTO (>= 50 mmHg) in 281 (30.4%). HRR was 1.90 +/- 0.40 (lowest quartile 2.13). Higher resting heart rate (odds ratio 1.027, 95% CI: 1.018-1.036, p < 0.001), older age (odds ratio 1.021, 95% CI: 1.009-1.033, p < 0.001), lower exercise tolerance (mets, odds ratio 0.761, 95% CI: 0.708-0.817, p < 0.001) and resting LVOTO (odds ratio 1.504, 95% CI: 1.043-2.170, p = 0.029) predicted a reduced HRR. During a median follow-up of 89 months (interquartile range: 36-145 months), 90 all-cause deaths occurred. At multivariable analysis, lowest quartile HRR (Hazard ratio 2.354, 95% CI 1.116-4.968 p = 0.025) and RWMA (Hazard ratio 3.279, 95% CI 1.441-7.461 p = 0.004) independently predicted death, in addition to age (Hazard ratio 1.064, 95% CI 1.043-1.085 p < 0.001) and maximal wall thickness (Hazard ratio 1.081, 95% CI 1.037-1.128, p < 0.001). Conclusions: A blunted HRR during ESE predicts survival independently of RWMA in HCM patients.info:eu-repo/semantics/publishedVersio

Systemic and Ophthalmic Manifestations in Different Types of Refractive Errors in Patients with Down Syndrome

Background and Objective: This study aims to investigate the prevalence of systemic and ophthalmic manifestations in different refractive groups in children and young adults with Down syndrome (DS). Materials and Methods: The study was a population-based, cross-sectional study that included 141 Caucasian children and young adults with DS. They were classified into the following three groups: myopia DS group (37 subjects, mean age 15.8 years), emmetropia DS group (41 subjects, mean age 11.7 years) and hyperopia DS group (63 subjects, mean age 10.9 years). The participants underwent inspection, slit-lamp examination, cycloplegic refraction, ocular alignment and ocular motility examination. Ten systemic manifestations were analyzed. Results: There was no difference in the prevalence of any systemic manifestations between the groups. Considering the ophthalmic manifestations, there was statistical difference in the distribution of proportions among the three groups for nystagmus (p = 0.011), iris-stromal atrophy (p = 0.048) and strabismus (p = 0.031). The prevalence of strabismus in our DS myopia group was 35.1%, and in DS hyperopia group 38.1%. Conclusions: The results of our study suggest that DS children and young adults with any refractive error do not have a higher chance of additional systemic manifestations. Myopia in DS was associated with a higher prevalence of nystagmus and iris stromal atrophy, whereas astigmatism was found to be more frequent in hyperopia