👤 Eric Boersma

Although lipoprotein(a) [Lp(a)] is an established independent risk factor for atherosclerotic cardiovascular disease (ASCVD) in primary prevention settings, it remains unclear whether Lp(a) contributes to an increased risk of adverse cardiovascular events in patients with established ASCVD. The current analysis combines the ATHEROREMO and IBIS-3 observational studies, which together enrolled 798 patients undergoing coronary angiography for stable angina pectoris or acute coronary syndrome. Intravascular ultrasound (IVUS) and near-infrared spectroscopy were performed to assess coronary plaque characteristics in a non-culprit study segment. Regression models were applied to relate Lp(a) to coronary plaque characteristics and long-term (up to 10 year) clinical outcomes. Lp(a) was analysed both as a continuous and categorical variable (using 75 nmol/L and 125 nmol/L as threshold). Mean age of the patients was 61.6 years (10.8); 75% were male; 19% had elevated Lp(a) levels (>125 nmol/L). Patients with Lp(a) > 125 nmol/L had a significantly higher prevalence of hypercholesterolemia and prior percutaneous coronary intervention. These patients demonstrated higher IVUS-derived plaque burden (40.7% (±11.5) vs. 38.6% (±10.7), p = 0.028), though no associations were found with other plaque characteristics, e.g. minimum lumen area, lipid core burden index and thin-cap fibroatheroroma. No association was found between Lp(a) and -5-year major adverse cardiac events (HR 1.06, 95% CI: 0.70-1.60, p = 0.78) and 10-year all-cause mortality (HR 0.63, 95% CI: 0.38-1.06, p = 0.78). Among patients with established ASCVD, Lp(a) was associated with plaque burden, supporting evidence that relates Lp(a) to atherosclerotic disease. However, Lp(a) was not associated with long-term mortality or cardiac adverse events in these patients. Show less

The HERMES (HEart failure Molecular Epidemiology for Therapeutic targetS) consortium aims to identify the genomic and molecular basis of heart failure. The consortium currently includes 51 studies from 11 countries, including 68 157 heart failure cases and 949 888 controls, with data on heart failure events and prognosis. All studies collected biological samples and performed genome-wide genotyping of common genetic variants. The enrolment of subjects into participating studies ranged from 1948 to the present day, and the median follow-up following heart failure diagnosis ranged from 2 to 116 months. Forty-nine of 51 individual studies enrolled participants of both sexes; in these studies, participants with heart failure were predominantly male (34-90%). The mean age at diagnosis or ascertainment across all studies ranged from 54 to 84 years. Based on the aggregate sample, we estimated 80% power to genetic variant associations with risk of heart failure with an odds ratio of ≥1.10 for common variants (allele frequency ≥ 0.05) and ≥1.20 for low-frequency variants (allele frequency 0.01-0.05) at P < 5 × 10 HERMES is a global collaboration aiming to (i) identify the genetic determinants of heart failure; (ii) generate insights into the causal pathways leading to heart failure and enable genetic approaches to target prioritization; and (iii) develop genomic tools for disease stratification and risk prediction. Show less

Background A genetic cause can be identified in 30% of noncompaction cardiomyopathy patients (NCCM) with clinical features ranging from asymptomatic cardiomyopathy to heart failure with major adverse cardiac events (MACE). Methods and Results To investigate genotype-phenotype correlations, the genotypes and clinical features of genetic NCCM patients were collected from the literature. We compared age at diagnosis, cardiac features and risk for MACE according to mode of inheritance and molecular effects for defects in the most common sarcomere genes and NCCM subtypes. Geno- and phenotypes of 561 NCCM patients from 172 studies showed increased risk in children for congenital heart defects ( Show less