| Resumo: | Introduction and objectives. Down syndrome (DS) is the most common chromosomal abnormality worldwide and almost half of patients present with congenital heart disease (CHD). Pulmonary arterial hypertension (PAH) is prevalent in this setting, contributing to the morbimortality observed. There are few recommendations regarding risk stratification, treatment and follow-up of DS patients with PAH-CHD. In this case series, we described a group of adult patients with PAH-CHD followed in a tertiary care center comparing clinical, cardiac and blood tests data, therapeutic strategies and outcomes. Methods. Fifty-nine adult patients with CHD and PAH, confirmed by echocardiography or right heart catheterization, followed in an outpatient clinic between 2010 and 2020 were enrolled. Clinical medical records were reviewed. Patients with complex heart defects were excluded. Results. The majority of patients were in WHO functional class II (51.7%) or III (31.1%). DS patients were younger (mean age 37.6 vs 45.6 years, p<0.01), had higher body mass index (BMI) (mean 30.6 kg/m2 vs 23.4 kg/m2, p<0.01) and a higher prevalence of atrioventricular septal defects (AVSDs) (52%). Echocardiographic data showed DS patients had lower pulmonary artery systolic pressure (PASP) (median 62 vs 107 mmHg, p<0.01). Significant differences in treatment strategies were observed, with only 16% of DS patients being treated with PAH-specific medication (p<0.01). No significant difference in mortality was observed (p=0.42). Conclusions. DS patients with PAH-CHD in this study were younger, had a higher BMI and a predominance of AVSDs. They exhibited lower PASP on echocardiography. Although fewer DS patients were treated with PAH-specific therapy, mortality did not differ significantly between groups.
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