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Purpose Family-based cascade screening from index probands is considered an effective way of identifying undiagnosed individuals with familial hypercholesterolemia (FH). The role of genetic testing of the proband in the success of cascade screening for FH is unknown. Methods We randomized 240 individuals with a clinical diagnosis of FH to genetic testing for FH ( n  = 160) or usual care with lipid testing alone ( n  = 80). The primary study endpoint was the proportion of probands with at least one relative enrolled in the study within one year after the notification of results. Results Proband median age was 59 (47–67) and 71% were female. Only 28 (12%) probands succeeded in enrolling a relative. While the genetic testing group had a higher proportion of probands with relatives enrolled (13.1%) compared with the usual care group (8.8%), this difference was not significant ( p  = 0.40). In subgroup analyses, enrollment of a relative was higher in the pathogenic variant group (22.7%) compared to the no pathogenic variant (9.5%) and usual care groups (8.8%) ( p  = 0.04). Conclusion We observed a low rate of family participation in cascade screening despite repeated recommendations to probands. Compared to usual care, genetic testing did not improve family participation in cascade screening for FH. Clinical trial number NCT04526457

Despite major differences in their health care systems, medical crowdfunding is increasingly used to finance personal health care costs in Canada, the UK, and the US. However, little is known about the campaigns designed to raise monetary donations for medical expenses, the individuals who turn to crowdfunding, and their fundraising intent. To examine the demographic characteristics of medical crowdfunding beneficiaries, campaign characteristics, and their association with funding success in Canada, the UK, and the US. This cross-sectional study extracted and manually reviewed data from GoFundMe campaigns discoverable between February 2018 and March 2019. All available campaigns on each country domain's GoFundMe medical discovery webpage that benefitted a unique patient(s) were included from Canada, the UK, and the US. Data analysis was performed from March to December 2019. Campaign and beneficiary characteristics. Log-transformed amount raised in US dollars. This study examined 3396 campaigns including 1091 in Canada, 1082 in the UK, and 1223 in the US. Campaigns in the US (median [IQR], $38 204 [$31 200 to $52 123]) raised more funds than campaigns in Canada ($12 662 [$9377 to $19 251]) and the UK ($6285 [$4028 to $12 348]). In the overall cohort per campaign, Black individuals raised 11.5% less (95% CI, -19.0% to -3.2%; P = .006) than non-Black individuals, and male individuals raised 5.9% more (95% CI, 2.2% to 9.7%; P = .002) than female individuals. Female (39.4% of campaigns vs 50.8% of US population; difference, 11.3%; 95% CI, 8.6% to 14.1%; P < .001) and Black (5.3% of campaigns vs 13.4% of US population; difference, 8.1%; 95% CI, 6.8% to 9.3%; P < .001) beneficiaries were underrepresented among US campaigns. Campaigns primarily for routine treatment expenses were approximately 3 times more common in the US (77.9% [272 of 349 campaigns]) than in Canada (21.9% [55 of 251 campaigns]; difference, 56.0%; 95% CI, 49.3-62.7%; P < .001) or the UK (26.6% [127 of 478 campaigns]; difference, 51.4%; 95% CI, 45.5%-57.3%; P < .001). However, campaigns for routine care were less successful overall. Approved, inaccessible care and experimental care raised 35.7% (95% CI, 25.6% to 46.7%; P < .001) and 20.9% (95% CI, 13.3% to 29.1%; P < .001), respectively, more per campaign than routine care. Campaigns primarily for alternative treatment expenses (16.1% [174 of 1079 campaigns]) were nearly 4-fold more common for cancer (23.5% [144 of 614 campaigns]) vs noncancer (6.5% [30 of 465 campaigns]) diagnoses. Important differences were observed in the reasons individuals turn to medical crowdfunding in the 3 countries examined that suggest racial and gender disparities in fundraising success. More work is needed to understand the underpinnings of these findings and their implications on health care provision in the countries examined.

Familial hypercholesterolemia variants impair clearance of cholesterol from the circulation and increase risk of coronary artery disease (CAD). The extent to which adherence to a healthy lifestyle is associated with a lower risk of CAD in carriers and noncarriers of variants warrants further study. To assess the association of the interaction between familial hypercholesterolemia variants and adherence to a healthy lifestyle with risk of CAD. This cross-sectional study used 2 independent data sets with gene sequencing and lifestyle data from the UK Biobank: a case-control study of 4896 cases and 5279 controls and a cohort study of 39 920 participants. Participants were recruited from 22 sites across the UK between March 21, 2006, and October 1, 2010. The case-control study included participants with CAD and controls at enrollment. The cohort study used a convenience sample of individuals with available gene sequencing data. Statistical analysis was performed from April 2, 2019, to January 20, 2022. Pathogenic or likely pathogenic DNA variants classified by a clinical laboratory geneticist and adherence to a healthy lifestyle based on a 4-point scoring system (1 point for each of the following: healthy diet, regular exercise, not smoking, and absence of obesity). Coronary artery disease, defined as myocardial infarction in the case-control study, and myocardial infarction, ischemic heart disease, or coronary revascularization procedure in the cohort study. The case-control study included 10 175 participants (6828 men [67.1%]; mean [SD] age, 58.6 [7.2] years), and the cohort study included 39 920 participants (18 802 men [47.1%]; mean [SD] age at the end of follow-up, 66.4 [8.0] years). A variant was identified in 35 of 4896 cases (0.7%) and 12 of 5279 controls (0.2%), corresponding to an odds ratio of 3.0 (95% CI, 1.6-5.9), and a variant was identified in 108 individuals (0.3%) in the cohort study, in which the hazard ratio for CAD was 3.8 (95% CI, 2.5-5.8). However, this risk appeared to vary according to lifestyle categories in both carriers and noncarriers of familial hypercholesterolemia variants, without a significant interaction between carrier status and lifestyle (odds ratio, 1.2 [95% CI, 0.6-2.5]; P = .62). Among carriers, a favorable lifestyle conferred 86% lower risk of CAD compared with an unfavorable lifestyle (hazard ratio, 0.14 [95% CI, 0.04-0.41]). The estimated risk of CAD by the age of 75 years varied according to lifestyle, ranging from 10.2% among noncarriers with a favorable lifestyle to 24.0% among noncarriers with an unfavorable lifestyle and ranging from 34.5% among carriers with a favorable lifestyle to 66.2% among carriers with an unfavorable lifestyle. This study suggests that, among carriers and noncarriers of a familial hypercholesterolemia variant, significant gradients in risk of CAD are noted according to adherence to a healthy lifestyle pattern. Similar to the general population, individuals who carry familial hypercholesterolemia variants are likely to benefit from lifestyle interventions to reduce their risk of CAD.

Although obesity is linked to heart failure on a population level, not all obese subjects develop cardiac failure. As a result, identifying obese subjects with subclinical changes in myocardial velocities may enable earlier detection of those susceptible to developing overt heart failure. As echocardiography is limited in obesity due to limited acoustic window, we used phase contrast magnetic resonance imaging to assess myocardial velocities in obese and normal weight subjects. Normal weight (BMI 23 ± 3; n = 40) and obese subjects (BMI 37 ± 7; n = 59) without identifiable cardiovascular risk factors underwent MRI (1.5 Tesla) to determine left ventricular myocardial velocities using phase contrast tissue phase mapping. Systolic function was not different between normal and obese subjects (LVEF 67 ± 5 vs 68 ± 4, p  = 0.22). However, obesity was associated with significantly impaired peak radial and longitudinal diastolic myocardial velocity (by 13 and 19 % respectively, both p  < 0.001). In addition time-to-peak longitudinal diastolic velocity was delayed in obesity (by 39 ms, p  < 0.001). In addition, peak longitudinal diastolic strain was 20 % lower in obesity ( p  = 0.015) and time-to-peak longitudinal diastolic strain rate significantly delayed in obesity (by 92 ms, p  < 0.001).Although peak radial systolic velocity was similar between obese and normal weight subjects ( p  = 0.14) peak longitudinal systolic velocity was 7 % lower in the obese cohort ( p  = 0.02). In obesity without co-morbidities, tissue phase mapping has shown subclinical changes in systolic and diastolic function. Given the link between obesity and heart failure, early detection of changes may become clinically important to prevent disease progression.

Aung Myat, Ezimamaka Ajufo, and Sarah Clarke provide a guide to the five main cardiology subspecialties