Genetic variants at the LPA locus are associated with calcific aortic stenosis (AS) and coronary artery disease (CAD). To examine associations of LPA variants with AS in patients with and without CAD, Perrot and coauthors compared individuals with AS (3258 with AS and CAD and 2069 with AS without CAD) with 41 100 controls with CAD and 380 075 controls without CAD. Higher genetic risk scores based on 3 common lipoprotein(a)-raising variants were associated with higher risks of AS in patients with CAD (odds ratio, 1.30; 95% CI, 1.20-1.42) and without CAD (odds ratio, 1.33; 95% CI, 1.14-1.55). Genetically elevated lipoprotein(a) levels were associated with AS independently of CAD.
Women with history of hypertensive disorders of pregnancy (HDP) have higher risk of cardiovascular disease (CVD), but whether this is explained by conventional cardiovascular risk factors is unknown. Haug and coauthors linked data for 23 885 parous women in the Norwegian Nord-Trøndelag Health Study to validated hospital records, the Cause of Death Registry, and the Medical Birth Registry of Norway. The 2199 women with history of HDP had an increased risk of CVD, which was largely explained by conventional cardiovascular risk factors. Blood pressure and body mass index were associated with up to 77% of the excess risk of CVD in women with history of HDP.
Selection of patients with hypertrophic cardiomyopathy (HCM) for implantable cardioverter/defibrillators (ICDs) to prevent sudden cardiac death (SCD) is incompletely resolved. In an observational longitudinal study of 2094 patients with HCM evaluated over 17 years, Maron and coauthors demonstrated that prospective ICD decisions based on American College of Cardiology/American Heart Association (ACC/AHA) guidelines recommendations enhanced with additional recent risk markers were highly sensitive for predicting SCD events (range, 87%-95%) but less specific for identifying those without SCD events (78%). Cumulative 5-year probability of an appropriate ICD intervention was 10.5%, and the number needed to treat with ICD to prevent 1 SCD was 6.6. In an Invited Commentary, Ommen notes the challenges in assessing SCD risk and helping patients make decisions regarding ICDs, given the heterogeneity of disease expression and the large number of identified risk markers.
Invited Commentary
Familial hypercholesterolemia (FH), an autosomal dominant disorder with prevalence of approximately 1 in 250, is often underdiagnosed and undertreated. Jackson and coauthors assessed the potential of blood donation as a novel means of screening for FH. Among 1 178 102 individuals (median [interquartile range] age, 32 [19-47] years) donating blood to Carter BloodCare between 2002 and 2016, 3473 individuals (1 in 339) met criteria for FH. The estimated prevalence was higher in individuals younger than 30 years (1 in 257) vs those 30 years or older (1 in 469). In an Invited Commentary, Daniels notes that for such screening programs to be effective, they must be connected to the health care system, as test results are useful only if understood, interpreted, and acted on by the patients and their health care professionals.
Invited Commentary
Author Audio Interview