Clinical features of paediatric pulmonary hypertension: a registry study

Abstract

Summary Background Paediatric pulmonary hypertension, is an important cause of morbidity and mortality, and is insufficiently characterised in children. The Tracking Outcomes and Practice in Pediatric Pulmonary Hypertension (TOPP) registry is a global, prospective study designed to provide information about demographics, treatment, and outcomes in paediatric pulmonary hypertension. Methods Consecutive patients aged 18 years or younger at diagnosis with pulmonary hypertension and increased pulmonary vascular resistance were enrolled in TOPP at 31 centres in 19 countries from Jan 31, 2008, to Feb 15, 2010. Patient and disease characteristics, including age at diagnosis and at enrolment, sex, ethnicity, presenting symptoms, pulmonary hypertension classification, comorbid disorders, medical and family history, haemodynamic indices, and functional class were recorded. Follow-up was decided by the patients’ physicians according to the individual’s health-care needs. Findings 362 of 456 consecutive patients had confirmed pulmonary hypertension (defined as mean pulmonary artery pressure ≥25 mm Hg, pulmonary capillary wedge pressure ≤12 mm Hg, and pulmonary vascular resistance index ≥3 WU/m32). 317 (88%) patients had pulmonary arterial hypertension (PAH), which was idiopathic [IPAH] or familial [FPAH] in 182 (57%), and associated with other disorders in 135 (43%), of which 115 (85%) cases were associated with congenital heart disease. 42 patients (12%) had pulmonary hypertension associated with respiratory disease or hypoxaemia, with bronchopulmonary dysplasia most frequent. Finally, only three patients had either chronic thromboembolic pulmonary hypertension or miscellaneous causes of pulmonary hypertension. Chromosomal anomalies, mainly trisomy 21, were reported in 47 (13%) of patients with confirmed disease. Median age at diagnosis was 7 years (IQR 3–12); 59% (268 of 456) were female. Although dyspnoea and fatigue were the most frequent symptoms, syncope occurred in 31% (57 of 182) of patients with IPAH or FPAH and in 18% (eight of 45) of those with repaired congenital heart disease; no children with unrepaired congenital systemic-to-pulmonary shunts had syncope. Despite severe pulmonary hypertension, functional class was I or II in 230 of 362 (64%) patients, which is consistent with preserved right-heart function. Interpretation TOPP identifies important clinical features specific to the care of paediatric pulmonary hypertension, which draw attention to the need for paediatric data rather than extrapolation from adult studies. Funding Actelion Pharmaceuticals.

Transthoracic Echocardiography in the Evaluation of Pediatric Pulmonary Hypertension and Ventricular Dysfunction

“…Early evidence for the epidemiology of PH originated from adult registries; however, several newer pediatric international registries have contributed to our understanding of the disease in children as well. [1][2][3][4][5] Pediatric PH can be associated with a variety of underlying conditions, including congenital heart disease (CHD), connective-tissue disorders, pulmonary disease, and endocrine, metabolic, and infectious diseases such as HIV. PH is usually progressive from infancy to adulthood and associated with poor prognosis.…”

“…An international registry showed that about 57% of children had iPH, a proportion similar to that observed in adults. 4,7 PH associated with CHD (PH-CHD) is more frequent in children (36%) than in adults (10%), 4 while other associated forms are uncommon in children. 8 For the initial assessment and follow-up of children with suspected or confirmed PH, transthoracic echocardiography (TTE) is the noninvasive diagnostic method of choice.…”

Registries for paediatric pulmonary hypertension

“…The Tracking Outcomes and Practice in Paediatric Pulmonary Hypertension (TOPP) registry is a prospective registry that provides information on demographics, diagnostic evaluation, treatment and outcomes in paediatric pulmonary hypertension [25]. The recent TOPP analysis (31 centres in 19 countries; 2008-2010) identified important clinical features specific to the care of paediatric pulmonary hypertension, which drew attention to the need for paediatric data rather than extrapolation from adult studies [25]. In total, 317 of 362 pulmonary hypertension patients had PAH (PH Group 1, 88%), which was idiopathic or familial PAH in 182 (57%), and associated with other disorders in 135 (43%), of which 115 (85%) cases were associated with congenital heart disease.…”

“…For example, brain natriuretic peptide (BNP) and N-terminal prohormone of BNP testing was performed in ,25% of children with pulmonary hypertension, and the 6-min walk test and cardiopulmonary exercise testing were conducted in only 38 and 7% patients, respectively. Both exercise tolerance tests are probably not reliable in children ,8 years of age and those with developmental delay, e.g., in trisomy 21 (13% in TOPP [25]). Hence, these functional variables do not serve well as (the sole) primary outcome in paediatric RCTs.…”

Information technology in pediatric practice: Current state and prospects

“…Создаются системы для наследствен-ных болезней, при которых своевременно начатое лечение является залогом предупреждения развития тяжелых инвалидизирующих состояний. В качестве примеров можно представить следующие регистры: • этапного слежения за течением беременности [9]; • врожденных дефектов у новорожденных для обес-печения ранней интервенционной терапии [10]; • вакцинации и иммунизации [11]; • детей с отдельными заболеваниями или группами заболеваний (туберкулезом [12], сахарным диабе-том [13], легочной гипертензией [14], инфекцион-ными заболеваниями [15]); • детей с мукополисахаридозами I и II типов, полу-чающих патогенетическое лечение, и детей с ту-берозным склерозом, получающих современную терапию [16]; • младенческой и перинатальной смертности, обес-печивающий многофакторную оценку, включая анализ эпидемиологических факторов критиче-ского риска [17]. Федеральные российские системы обеспечивают вертикальную интеграцию медико-социальных дан-ных по уровням системы здравоохранения.…”