AimsIn this nationwide cohort of atrial septal defect (ASD) patients, the largest to date, we report the longest follow-up time with and without closure in childhood and adulthood compared with a general population cohort.Methods and resultsUsing population-based registries, we included Danish individuals born before 1994 who received an ASD diagnosis between 1959 and 2013. All diagnoses were subsequently validated (n = 2277). Using the Kaplan–Meier estimates and Cox proportional hazards regression adjusted for sex, birth year, and a modified Charlson Comorbidity Index, we compared the mortality of ASD patients with that of a birth year and sex matched general population cohort. The median follow-up from ASD diagnosis was 18.1 years (range 1–53 years). Patients with ASD had a higher mortality [adjusted hazard ratio (HR): 1.7; 95% confidence interval (CI): 1.5–1.9] compared with the general population cohort. The adjusted HR 30 days after closure was 1.4 (95% CI: 1.2–1.7), and it was 2.4 (95% CI: 2.0–2.9) for patients without closure.ConclusionOverall, ASD patients had a higher long-term mortality than a general population cohort matched on birth year and gender. Our data indicate a lower relative mortality of those ASD patients undergoing closure than the ASD patients not undergoing closure.

Background: Adults patients with small, unrepaired atrial septal defects (ASD) have higher late mortality than the background population. In this nationwide study, we characterise the late natural history of adults with small, unrepaired ASD. Methods: Using the Danish National Patient Registry, we included all Danish patients, diagnosed between 1953 and 2011 with an unrepaired ASD. Additionally, all patients, aged 18-65, were invited for clinical testing. Patients also completed a general health survey for comparison with the general population. Results: We identified 723 patients with a small unrepaired ASD. Since the time of diagnosis, 182 patients had died, with an average lifespan of 63 years. The most common cause of death was heart failure. Furthermore, ASD patients had a higher burden of chronic disease than the general population (38.2% vs. 26.9%; p=0.005), particularly lung disease (3.6% vs. 0.9%; p=0.008). A total of 153 patients (mean age 32y) underwent additional testing. On echocardiography an open defect was verified in 19.6% (n=30) of the patients, of which half subsequently underwent intervention. Interestingly, 6-minute walking distance was markedly reduced (p<0.0001 compared to normative values) no matter whether the defect was open or closed by echocardiography. Finally, 25.5% of the patients often felt stressed or nervous as compared with 16.3% of the general population (p=0.004). Conclusions: Patients with small, unrepaired ASD in adult life have reduced lifespan, more chronic diseases, impaired submaximal exercise capacity, and higher levels of stress than the general population. The current guidelines for intervention and follow-up may need to be reconsidered.

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AbstractObjective:To determine the prevalence of pacemaker and conduction disturbances in patients with atrial septal defects.Design:All patients with an atrial septal defect born before 1994 were identified in the Danish National Patient Registry, and 297 patients were analysed for atrioventricular block, bradycardia, right bundle branch block, left anterior fascicular block, left posterior fascicular block, pacemaker, and mortality. Our results were compared with pre-existing data from a healthy background population. Further, outcomes were compared between patients with open atrial septal defects and atrial septal defects closed by surgery or transcatheter.Results:Most frequent findings were incomplete right bundle branch block (40.1%), left anterior fascicular block (3.7%), atrioventricular block (3.7%), and pacemaker (3.7%). Average age at pacemaker implantation was 32 years. Patients with defects closed surgically or by transcatheter had an increased prevalence of atrioventricular block (p < 0.01), incomplete right bundle branch block (p < 0.01), and left anterior fascicular block (p = 0.02) when compared to patients with unclosed atrial septal defects. At age above 25 years, there was a considerably higher prevalence of atrioventricular block (9.4% versus 0.1%) and complete right bundle branch block (1.9% versus 0.4%) when compared to the background cohorts.Conclusions:Patients with atrial septal defects have a considerably higher prevalence of conduction abnormalities when compared to the background population. Patients with surgically or transcatheter closed atrial septal defects demonstrated a higher demand for pacemaker and a higher prevalence of atrioventricular block, incomplete right bundle branch block, and left anterior fascicular block when compared to patients with unclosed atrial septal defects.

Genetic analyses of patients with transposition of the great arteries have identified rare copy number variations, suggesting that they may be significant to the aetiology of the disease. This paper reports the identification of a 16p11.2 microduplication, a variation that has yet to be reported in association with transposition of the great arteries. The 16p11.2 microduplication is associated with autism spectrum disorder and developmental delay, but with highly variable phenotypic effects. Autism and attention deficit disorders are observed more frequently in children with congenital heart disease than in the general population. Neonatal surgery is proposed as a risk factor, but as yet unidentified genetic abnormalities should also be taken into account. Thus, congenital heart abnormalities may constitute a part of the phenotypic spectrum associated with duplications at 16p11.2. We suggest chromosomal microarray be considered part of the diagnostic work-up in patients with transposition of the great arteries.