European Heart Journal最新文献

Background and aims: Congenital heart defects (CHD) aggregate in families, but recurrence patterns across kinships and generations remain incompletely understood. In light of improved survival and diagnostic precision, updated population-based estimates are needed. This study aimed to investigate familial recurrence patterns of CHD among relatives using nationwide Swedish register data.

Methods: A retrospective, population-based case-control study was conducted, including 51 778 individuals with CHD born between 1987 and 2017 and 522 543 matched controls. Relatives (parents, full siblings, half-siblings, and offspring) were identified through linkage to national health and population registers. Logistic regression with robust standard errors clustered on maternal ID was used to estimate odds ratios (ORs) and 95% confidence intervals (CIs). Dose-response relationships, kinship-specific associations, and interactions with maternal comorbidities (diabetes, hypertension, and obesity) were explored.

Results: Among individuals with at least one affected relative, the OR for CHD was 2.71 (95% CI 2.60-2.83), increasing with each additional affected relative (OR per relative 2.55; 95% CI 2.46-2.64). Recurrence was strongest for mothers (OR 3.12), full siblings (OR 3.22), and offspring (OR 3.18) and lower for fathers and half-siblings. A dose-response was observed by number of affected siblings and offspring. The association between maternal CHD and CHD in index individuals was not explained by maternal comorbidities.

Conclusions: Congenital heart defect in a relative (parent, full or half-siblings, or offspring) is associated with CHD in the index individual, with recurrence patterns varying by kinship and number of affected relatives. These findings may inform genetic counselling and reproductive planning.

Background and aims: Prior studies on cardiac remodelling associated with exercise have relied on self-reported data of uncertain accuracy. In the present study, exercise duration and intensity were objectively quantified using heart rate (HR) monitors in athletes, and these metrics were correlated with cardiac magnetic resonance findings.

Methods: Young (16-23 years, n = 69) and middle-aged (45-70 years, n = 82) male endurance athletes with ≥80% of training sessions recorded via chest-worn HR monitors over 3 months were included. Training duration, session count, and intensity (classified into five HR zones and expressed as Edwards training impulse in arbitrary units) were analysed. Cardiac magnetic resonance measured indexed left/right ventricular volumes, ejection fraction, and left ventricular mass.

Results: Younger athletes trained more than older athletes [169 (127-209) vs 78 (49-114) hours; 23 129 (17 880-28 305) vs 12 620 (7168-17 607) arbitrary units; both P < .05] over a 3-month period. In all athletes, light-to-moderate-intensity training exceeded thresholds of >6 or >9 metabolic equivalent of tasks to describe intense activity. Training duration (r > .33, P < .05 for all) and Edwards training impulse (r > .29, P < .05 for all) correlated with cardiac dimensions, but the duration always outperformed intensity. Time spent in lower HR zones (1 and 2) correlated more with cardiac dimensions than higher-intensity training. Partial least squares analysis identified training duration in Zones 1&2 and 3 and age as key determinants of cardiac remodelling, whereas intensity was not a significant determinant of cardiac dimensions.

Conclusions: Objective exercise quantification reveals new insights into cardiac remodelling, highlighting total exercise duration as a primary determinant of left/right ventricular volumes, independent of intensity. Traditional questionnaire-based methods may overlook these relationships.

Athletes commonly exhibit a series of electrical, structural, and functional physiological changes which may overlap with cardiac pathology. The last two decades have witnessed a progressive improvement in understanding what can be considered benign for athletes and what may be deemed as potentially pathological and require further investigations. However, diagnostic uncertainties in the cardiac assessment of athletes are often encountered. In particular, the clinical significance of some electrocardiogram (ECG) findings may be uncertain. While uncommon and suggestive of an underlying cardiac condition, they may be identified among healthy athletes without additional pathological findings to support a unifying clinical diagnosis. This creates significant dilemmas for clinicians charged with determining sports eligibility and those who have the responsibility to help athletes in the decision-making process regarding future competitive sports participation. Current guidelines, recommendations, and position papers provide a roadmap for the differential diagnosis between 'athlete's heart' and cardiac disease. However, managing ECG findings of uncertain clinical significance, especially when initial diagnostic evaluation reveals no supportive signs of pathology, has received comparatively less attention, in particular, the type of cardiac investigations, the extent of diagnostic work-up and the need for follow-up require clarification. This document aims to provide guidance based on published evidence and expert opinions to assist in the clinical decision-making regarding ECG anomalies that are common sources of uncertainty when managing asymptomatic athletes.