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Changing Demographics of Pulmonary Arterial Hypertension in Congenital Heart Disease Eur Respir Rev 2010; 19: 118, 308–313 DOI: 10.1183/09059180.00007910 CopyrightßERS 2010 REVIEW Changing demographics of pulmonary arterial hypertension in congenital heart disease B.J.M. Mulder ABSTRACT: Pulmonary arterial hypertension (PAH) is a serious complication of congenital heart CORRESPONDENCE disease (CHD). Without early surgical repair, around one-third of paediatric CHD patients develop B.J.M. Mulder Dept of Cardiology, B2-240 significant PAH. Recent data from the Netherlands suggest that .4% of adult CHD patients have Academic Medical Centre PAH, with higher rates in those with septal defects. A spectrum of cardiac defects is associated Meibergdreef 9 with PAH-CHD, although most cases develop as a consequence of large systemic-to-pulmonary 1105AZ Amsterdam shunts. Eisenmenger’s syndrome, characterised by reversed pulmonary-to-systemic (right-to-left) The Netherlands E-mail: [email protected] shunt, represents the most advanced form of PAH-CHD and affects as many as 50% of those with PAH and left-to-right shunts. It is associated with the poorest outcome among patients with PAH- Received: CHD. 40 yrs ago, ,50% of children with CHD requiring intervention died within the first year, and Aug 24 2010 ,15% survived to adulthood. Subsequent advances in paediatric cardiology have seen most Accepted after revision: Sept 10 2010 patients with CHD survive to adulthood, with resulting shifts in the demographics of CHD and PAH-CHD. The number of adults presenting with CHD is increasing and, although mortality is PROVENANCE decreasing, morbidity is increasing as older patients are at increased risk of arrhythmia, heart Publication of this peer-reviewed failure, valve regurgitation and PAH. Data show that probability of PAH increases with age in article was supported by Actelion Pharmaceuticals Ltd, Switzerland patients with cardiac defects. (unrestricted grant, European Respiratory Review issue 118). KEYWORDS: Congenital heart disease, pulmonary arterial hypertension ulmonary arterial hypertension (PAH), a CONCOR registry, rising to 6.2% among 1,824 disease of the pulmonary vasculature char- patients with septal defects [4]. In a separate P acterised by an elevated mean pulmonary Dutch study, 9.9% of 1,148 patients with CTD arterial pressure (P¯ pa) at rest of o25 mmHg [1], is were found to have PAH [5]. one of the most serious complications of congeni- PAH can occur in association with a number of tal heart disease (CHD). After idiopathic PAH conditions other than CHD, although the under- (IPAH) and PAH associated with connective tis- lying pathophysiology is similar in each case. sue diseases (PAH-CTD), it is the third most com- Previous studies have suggested that PAH-CHD mon form of PAH [2]. has a better prognosis than PAH of other aetiolo- A diagnosis of PAH has ramifications for both gies. Research has demonstrated an actuarial 3-yr paediatric and adult CHD patients. In children, survival rate for PAH-CHD of 77%, compared with only 35% at 3 yrs for untreated IPAH [6], the course of CHD is complicated by the presence 37% for PAH-CTD and 21% for PAH associated of PAH: estimates suggest that approximately with HIV infection [3]. one-third of paediatric CHD patients develop significant PAH without early surgical repair [3]. Although progression of PAH appears slower in Increasing numbers of adults are presenting with patients with CHD compared with IPAH and CHD, illustrated by the fact that there are 1.2 PAH of other aetiologies, it remains an extremely million adult CHD patients in Europe alone, all debilitating condition that affects both survival of whom are at risk of developing PAH. The and quality of life [7]. Moreover, because greater prevalence of PAH associated with CHD (PAH- numbers of patients with CHD now survive into European Respiratory Review CHD) was calculated as 4.2% among a popula- adulthood, the demographics of PAH-CHD are Print ISSN 0905-9180 tion of 5,970 CHD patients included in the Dutch changing. This article describes the wide range of Online ISSN 1600-0617 308 VOLUME 19 NUMBER 118 EUROPEAN RESPIRATORY REVIEW B.J.M. MULDER REVIEW: PAH IN CHD cardiac defects that are associated with the development of venosus defects. Not surprisingly, the prevalence of PAH was PAH in CHD, and discusses the changing demographics of also higher in these patients (26% versus 9%, respectively) [10]. PAH-CHD. In cases where changes in the pulmonary arteries (irreversible CLINICAL PRESENTATION OF PAH-CHD vascular injury) cause PVR to exceed systemic vascular In patients with CHD, the development of PAH has been resistance, a reversed pulmonary-to-systemic (right-to-left) associated with a broad spectrum of congenital cardiac lesions shunt can occur [1]. Development of this condition, known (table 1), which can be divided into four categories [8]. The as Eisenmenger’s syndrome, represents the most severe form first category includes heart lesions that cause left-to-right of PAH-CHD. Surveys suggest that Eisenmenger’s syndrome shunts, resulting in blood flow through the pulmonary affects up to 1% of adult CHD patients and 6% of those with vasculature that is elevated in terms of both rate and pressure; shunts [4]. Eisenmenger’s syndrome includes all systemic-to- such defects include atrial septal defect (ASD), ventricular pulmonary shunts that arise from large septal defects and that septal defect (VSD), atrioventricular septal canal defects and ultimately lead to pulmonary-to-systemic or bidirectional patent ductus arteriosus (PDA). The second category com- shunts, with associated symptoms of cyanosis, erythrocytosis prises lesions such as mitral stenosis and aortic stenosis, which and multiple organ involvement. cause left-sided (pulmonary venous) obstruction. The third Patients with CHD who develop Eisenmenger’s syndrome category consists of a subgroup of cyanotic heart lesions when have a variety of congenital heart defects, of which VSD, ASD they present with increased pulmonary blood flow, such as and PDA are among the most common. Recent data from the common arterial trunk and transposition of the great vessels. CONCOR registry showed that, among patients with PAH and The final category includes anomalies of the pulmonary septal defects, more than one-half (58%) had Eisenmenger’s arteries, such as hemitruncus and tetralogy of Fallot. It is , important to note that the latter causes PAH only when it syndrome, representing 1% of the total patient population. It occurs simultaneous with pulmonary atresia and major was more than twice as common among patients with VSD aortopulmonary collateral artery, as tetralogy of Fallot alone (48%) relative to those with ASD (17%) [4], consistent with obstructs the pulmonary blood flow and prevents overcircula- earlier reports. For example, in a long-term observational tion in the pulmonary arteries [8]. cohort study of 1,280 patients with VSD, most of whom were infants at study entry, 98 (7.8%) were diagnosed with Most cases of PAH develop as a consequence of large systemic- Eisenmenger’s syndrome on admission [11]. Eisenmenger’s to-pulmonary shunts, where exposure of the pulmonary syndrome subsequently developed in 10 of the 322 patients vasculature to high systemic arterial pressure leads to in- who were managed medically, and in one of the 226 patients creased pulmonary arterial pressure (Ppa), progressive pul- who underwent surgical closure of the defect. Among the monary vascular injury and increased pulmonary vascular medically managed patients, there were no cases of resistance (PVR) [9]. As mentioned previously, data from the Eisenmenger’s syndrome in patients with trivial or mild CONCOR registry of adult, Dutch CHD patients provide VSDs, two (3.1%) cases in those with moderate VSDs and insights into the frequency of PAH in relation to various eight (57.1%) cases in those with severe VSDs [11]. cardiac defects. Among patients with ASD, some 7–8% devel- oped PAH, compared with 11% of those with VSD and 41% of Other data also indicate that Eisenmenger’s syndrome is more those with atrioventricular septal canal defects [4]. An earlier, likely to develop in patients with large and complex septal retrospective comparison between patients with ostium secun- defects. For example, data have shown that Eisenmenger’s dum ASD, when the aperture in the second septum of the fetal syndrome develops in 10% of patients with unrepaired large heart fails to close, and those with sinus venosus defects, ASD, in 50% of patients with unrepaired large VSD or PDA where the superior portion of the atrium fails to develop, and in almost all patients with unrepaired common arterial showed that Ppa and PVR were higher in patients with sinus trunk [12]. Interestingly, onset of Eisenmenger’s syndrome TABLE 1 Pulmonary arterial hypertension associated with congenital heart disease (CHD) Type of defect Example Left-to-right shunts Atrial septal defect Ventricular septal defect Atrioventricular defects Patent ductus arteriosus Left-sided obstruction Mitral stenosis Aortic stenosis Cyanotic CHD (occurring with increased pulmonary blood flow) Common arterial trunk Transposition of great vessels Anomalies of pulmonary arteries Tetralogy of Fallot with pulmonary atresia and MAPCAs Hemitruncus MAPCA: major aortopulmonary collateral artery. Modified from [8] with permission from the publisher. c EUROPEAN RESPIRATORY REVIEW VOLUME 19 NUMBER 118 309 REVIEW: PAH IN CHD B.J.M. MULDER tends to be early in patients with VSD or PDA, among whom CHANGING DEMOGRAPHICS OF CHD 80% of cases occur during infancy, whereas among patients Before 1970, ,50% of children with CHD requiring interven- with ASD, 90% of cases occur during adulthood [12]. tion died within the first year, and ,15% survived to adulthood [20]. Major advances in paediatric cardiology and As these data illustrate, the risk of developing irreversible surgery over the past 40 yrs have seen an increasing number of pulmonary vascular disease depends on the specific nature patients with CHD survive to adulthood [21].
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