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How Is Pulmonary Hypertension Characterised and Treated in Children With Trisomy 21? Observations From the TOPP
Tilman Humpl1, Rolf M F Berger2, Damien Bonnet3
1Department of Pediatrics District Hospital of Loerrach Germany.
Insights
Pediatric pulmonary hypertension in children with Trisomy 21 is common, often linked to congenital heart disease. Early diagnosis and comprehensive workup are crucial for effective treatment strategies in this population.
Area of Science:
- Pediatric Cardiology
- Pulmonology
- Genetics
Background:
- Pulmonary hypertension (PH) is a frequent complication in children with Trisomy 21.
- Multifactorial etiologies contribute to PH in this population.
- Registry data are vital for understanding PH in Trisomy 21.
Purpose of the Study:
- To analyze disease development, diagnostic patterns, and treatment in pediatric PH associated with Trisomy 21.
- To compare outcomes and characteristics between children with and without Trisomy 21.
- To identify essential diagnostic and therapeutic approaches for PH in Trisomy 21.
Main Methods:
- Utilized the Tracking Outcomes and Practice in Pediatric Pulmonary Hypertension (TOPP) registry.
- Included patients aged 3 months to 18 years meeting hemodynamic criteria for PH.
- Analyzed demographic, clinical, diagnostic, etiological, hemodynamic, treatment, and follow-up data using statistical tests (Mann-Whitney, chi-squared, Fisher's exact).
Main Results:
- 11.7% of 531 children in the registry had Trisomy 21.
- Trisomy 21 patients were younger at diagnosis and more frequently had congenital heart disease.
- Trisomy 21 patients showed less dyspnea with exertion but more cyanosis; received less targeted and combination therapy.
Conclusions:
- Children with Trisomy 21 and PH present differently, with lower mean pulmonary artery pressure but similar resistance.
- Comprehensive diagnostic workup is essential for identifying underlying pathology in Trisomy 21.
- Timely and appropriate treatment, guided by systematic diagnosis, is critical for managing PH in children with Trisomy 21.
Abstract:
Pulmonary hypertension is common in children with Trisomy 21, frequently with multifactorial aetiologies. Registry data provide better understanding of disease development, diagnostic workup and treatment patterns in children with Trisomy 21. TOPP (Tracking Outcomes and Practice in Pediatric Pulmonary Hypertension) is a centre-based, comprehensive registry. Patients aged between 3 months and 18 years at time of diagnosis were eligible if they met predefined haemodynamic criteria. Demographic data, clinical symptoms at presentation, diagnostic tools, etiology, hemodynamic data, treatment, and follow-up were collected from the data base. Differences between the Trisomy 21 group and the non-Trisomy 21 group were analysed by the non-parametric Mann-Whitney test. Categorical variables were compared using the chi-squared test, or Fisher's exact test in the case of low expected frequencies. Out of 531 children in the registry, 62 patients (11.7%) were diagnosed with Trisomy 21. Compared to children without Trisomy 21, those with Trisomy 21 were younger at diagnosis, and had more often an associated congenital heart disease. Clinical symptoms at diagnosis were similar in children with or without Trisomy 21. However, those with Trisomy 21 presented less frequently with dyspnea with exertion, but more frequently with cyanosis, either at rest or with exertion. A comprehensive diagnostic workup in all children with Trisomy 21 was not done. Children with Trisomy 21 had lower mean pulmonary artery pressure (median 50 mmHg, IQR 38-62) and similar indexed pulmonary vascular resistance (median 11.5 WU.m2, IQR 7.4-18.4) compared to patients without Trisomy 21. Children with Trisomy 21 were treated less frequently with targeted therapies for pulmonary arterial hypertension and received less combination therapy. In children with Trisomy 21 and pulmonary hypertension, early systematic diagnostic work up is essential to obtain the correct underlying pathology and guides to appropriate treatment.
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