Time trends in congenital heart defects (CHD) by specific phenotype and with long follow-up time are rarely available for an entire population. We present trends in national CHD prevalences over the past 3 decades.
We linked information from the National Patient Register, the Causes of Death Register, and the Danish Cytogenetic Central Register for all persons born in Denmark, 1977 to 2005, and registered in the Civil Registration System, yielding a cohort of 1,763,591 persons-18,207 with CHD. Individuals with CHDs were classified by phenotype (heterotaxia, conotruncal defect, atrioventricular septal defect, anomalous pulmonary venous return, left and right ventricular outflow tract obstructions, septal defects, complex defects, associations, patent ductus arteriosus, unspecified, and other specified) by combining International Classification of Diseases codes using a hierarchical approach.
From 1977 to 2005, the overall CHD birth prevalence increased from 73 to 113 per 10,000 live births. Generally, prevalence increased for defects diagnosed in infancy, until 1996-1997, and then stabilized. For each 5-year interval, isolated septal defects and severe defects increased by 22% (95% CI, 20%-25%) and 5% (95% CI, 4%-7%), respectively. Among the severe defects, conotruncal defects and atrioventricular septal defect showed the largest prevalence increases. Women had a lower prevalence of severe defects during the 1980s. The CHD prevalence increase was unchanged when persons with extracardiac defects or chromosomal aberrations were excluded.
CHD birth prevalence increased from the beginning of the 1980s but stabilized in the late 1990s.
"Family history of CVM is one of the most consistently identified risk factors in CVM [Loffredo et al., 2000, 2001; Oyen et al., 2009a, 2009b; Wollins et al., 2001; Zavala et al., 1992]; the rate of occurrence in close relatives of affected individuals being substantially (5-to 40-fold) higher than the general population rate. Across all CVM, sibling and or offspring recurrence risk is estimated at 1e4% [Burn et al., 1998; Digilio et al., 2001; Gill et al., 2003; Hoess et al., 2002; Hoffman, 1990; Lewin et al., 2004; Meijer et al., 2005; Oyen et al., 2009a, 2009b, 2011; Piacentini et al., 2005; Siu, 1998; Whittemore et al., 1994]. Several studies have also demonstrated increased rates of cardiovascular malformations in populations with increased inbreeding and consanguineous parentage [Badaruddoza et al., 1994; Becker and Al Halees, 1999; Becker et al., 2001; Chehab et al., 2007; Nabulsi et al., 2003; Ramegowda and Ramachandra, 2006]. "
[Show abstract][Hide abstract] ABSTRACT: Cardiovascular malformations are a singularly important class of birth defects and, due to dramatic improvements in medical and surgical care, there are now large numbers of adult survivors. The etiologies are complex, but there is strong evidence that genetic factors play a crucial role. Over the last 15 years there has been enormous progress in the discovery of causative genes for syndromic heart malformations and in rare families with Mendelian forms. The rapid characterization of genomic disorders as major contributors to congenital heart defects is also notable. The genes identified encode many transcription factors, chromatin regulators, growth factors and signal transduction pathways- all unified by their required roles in normal cardiac development. Genome-wide sequencing of the coding regions promises to elucidate genetic causation in several disorders affecting cardiac development. Such comprehensive studies evaluating both common and rare variants would be essential in characterizing gene-gene interactions, as well as in understanding the gene-environment interactions that increase the susceptibility to congenital heart defects.
European journal of medical genetics 04/2014; 57(8). DOI:10.1016/j.ejmg.2014.04.010 · 1.47 Impact Factor
"Advances in diagnosis, medical management and surgical intervention have improved the longevity of children with congenital heart diseases (CHD)    and there are today more adults than children living with congenital heart defects  . Although the heart defect is corrected at a young age, the condition is often considered to be chronic  . "
[Show abstract][Hide abstract] ABSTRACT: Purpose: Today, more patients with congenital heart disease (CHD) reach adulthood. There are conflicting findings concerning the relationship between quality of life (QoL) or health state for adults with CHD and the complexity of their CHD. The aim of the study was, firstly, to compare the reported health status and health perception of adult patients with CHD and, secondly, to investigate what variables influenced the patients' health status and health perception.
Methods: Data from 1435 patients completing the EQ-5D questionnaire, which includes reported health status and health perception, were analyzed.
Results: Valid EQ-5D data were reported by 1274 patients, showing overall results indicating a good health status. Problems were most frequently reported in the dimension “pain/discomfort” (31.9%) and “anxiety/depression” (29.8%). Higher occurrence of problems were reported by patients with complex disease i.e. single ventricle (p < 0.001) and by female patients (p < 0.0001). Symptomatic patients reported a lower health status
(p < 0.0001) and a lower perceived health on EQ-VAS (p < 0.0001). Of the asymptomatic patients, 20.5% nevertheless reported problems in “pain/discomfort” and 22.2% in the “anxiety/depression” dimension.
Conclusion: The health status of adults with CHD is influenced by symptoms, NYHA-classification, age and gender. Adults with CHD report a lower occurrence of problems in comparison to previously published results from a general population, but the importance of actively asking about the patient's experience is demonstrated by the high degree of asymptomatic patients reporting problems on EQ-5D.
International Journal of Cardiology 01/2013; · 4.04 Impact Factor
[Show abstract][Hide abstract] ABSTRACT: Knowledge of the familial contribution to congenital heart diseases (CHD) on an individual and population level is sparse. We estimated an individual's risk of CHD given a family history of CHD, as well as the contribution of CHD family history to the total number of CHD cases in the population.
In a national cohort study, we linked all Danish residents to the National Patient Register, the Causes of Death Register, the Danish Central Cytogenetic Register, and the Danish Family Relations Database, yielding 1 763 591 persons born in Denmark between 1977 and 2005, of whom 18 708 had CHD. Individuals with CHD were classified by phenotype. We estimated recurrence risk ratios and population-attributable risk. Among first-degree relatives, the recurrence risk ratio was 79.1 (95% confidence interval [CI] 32.9 to 190) for heterotaxia, 11.7 (95% CI, 8.0 to 17.0) for conotruncal defects, 24.3 (95% CI,12.2 to 48.7) for atrioventricular septal defect, 12.9 (95% CI, 7.48 to 22.2) for left ventricular outflow tract obstruction, 48.6 (95% CI, 27.5 to 85.6) for right ventricular outflow tract obstruction, 7.1 (95% CI, 4.5 to 11.1) for isolated atrial septal defect, and 3.4 (95% CI, 2.2 to 5.3) for isolated ventricular septal defect. The overall recurrence risk ratio for the same defect was 8.15 (95% CI, 6.95 to 9.55), whereas it was 2.68 (95% CI, 2.43 to 2.97) for different heart defects. Only 2.2% of heart defect cases in the population (4.2% after the exclusion of chromosomal aberrations) were attributed to CHD family history in first-degree relatives.
Specific CHDs showed highly variable but strong familial clustering in first-degree relatives, ranging from 3-fold to 80-fold compared with the population prevalence, whereas the crossover risks between dissimilar cases of CHD were weaker. Family history of any CHD among first-degree relatives accounted for a small proportion of CHD cases in the population.
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