Pulmonary arterial hypertension in congenital heart disease: An epidemiologic perspective from a Dutch registry
Introduction
Pulmonary arterial hypertension (PAH) may lead to a decreased functional capacity, and right ventricular failure, and is often associated with early death [1]. The prevalence of PAH in patients with congenital heart disease is not known. It has been suggested that 10% of all adult patients with congenital heart disease sooner or later develop PAH [2], [3]. In the context of congenital heart disease, PAH may develop as a consequence of a systemic-to-pulmonary shunt. Due to systemic-to-pulmonary shunting, pulmonary blood flow increases. This leads to increased pressure in the pulmonary arteries, endothelial dysfunction and an increased vascular resistance. These changes may ultimately lead to a reversal of the systemic-to-pulmonary shunt accompanied by cyanosis [4], the so-called Eisenmenger syndrome. Eisenmenger syndrome is at the severe end of the spectrum of PAH and involves probably about 1–2% of patients with congenital heart disease [3].
Once the Eisenmenger syndrome exists, repair of the underlying defect is contraindicated. The right ventricle will be unable to generate enough pressure to overcome the high pulmonary vascular resistance and decompensate. Surgical correction of the congenital heart defect, during childhood, before the characteristic changes in the pulmonary arteries have started to appear, will mostly prevent the development of PAH [5], [6], [7].
A few studies have been devoted to the clinical course of the Eisenmenger syndrome, but little is known about the prevalence and clinical impact of PAH among patients with congenital heart defects. Various congenital heart defects may lead to PAH, such as univentricular heart, truncus arteriosus, patent ductus arteriosus and septal defects, but PAH may also develop as a result of surgical shunts (Potts, Waterston, Blalock–Taussig). Although PAH may occur in the context of a wide range of different defects, by far the largest proportion of patients with PAH have a septal defect as underlying defect. For that reason, in this study we focused in particular on ventricular septal defect (VSD), primum or secundum atrial septal defect (ASD I or ASD II, respectively) or complete atrioventricular septal defect (AVSD). As early surgery of the defect will mostly prevent the development of PAH, it is especially important to be informed on the risk of PAH in these patients. What is the prevalence of PAH in this category of patients, and what are the clinical characteristics of adult patients with PAH? To answer these questions, we analyzed data from the CONCOR (CONgenital COR vitia) registry, a nationwide registry of adult patients with congenital heart defects in the Netherlands. This registry was set up as a basis for studying the epidemiology of congenital heart defects and includes patients with structural congenital heart defects or Marfan syndrome. In the registry are not included, patients with cardiomyopathies (i.e. arrhythmogenic right ventricular dysplasia, hypertrophic cardiomyopathy and dilated cardiomyopathy) or inherited diseases leading to genetically determined cardiac arrhythmias and sudden death (i.e. long QT syndrome, Brugada syndrome) [8]. Consistent input of data by dedicated nurses travelling along the participating hospitals may guarantee a rather high consistency of data input and a rather low amount of missing data.
Section snippets
Patient population
In November 2005, the CONCOR registry contained diagnoses and clinical events of 5970 adult patients with congenital heart disease from 86 tertiary and regional hospitals [8]. Our assessment of the prevalence of PAH consisted of two parts. In a first, global, analysis, we estimated the prevalence of PAH among all patients at risk for developing PAH. Thus, we defined a total “population at risk”, which included all patients in the registry who had as primary diagnosis a defect that may lead to
Population
Of the total population included in the CONCOR registry (5970 patients) from 86 hospitals, the population at risk existed of 2389 patients (see Table 1), having one of the defects mentioned in the methods section. Of those, 248 (10%) had PAH. In total, the prevalence of PAH among congenital heart disease patients was 4.2%. Further, 1824 patients (31%) were identified as having a septal defect; in 899 of these patients the septal defect had been closed. Of the 1824 patients with a septal defect,
Discussion
Our data show that the prevalence of PAH among patients with a septal defect is at least 6.1% among adult patients included in the CONCOR registry. The estimated prevalence of PAH among all patients included in the CONCOR registry as a whole is at least 4.2%. One percent of all patients (5970) registered in the CONCOR registry had the Eisenmenger syndrome. VSD was the most common underlying diagnosis among patients with PAH in the septal defect group. Female sex and increased sPAP were both
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