Pulmonary Hypertension in the Population with Down Syndrome

OBJECTIVE:To determine the frequence and profile of congenital heart defects in Down syndrome patients referred to a pediatric cardiologic center, considering the age of referral, gender, type of heart disease diagnosed by transthoracic echocardiography and its association with pulmonary hypertension at the initial diagnosis.METHODS:Cross-sectional study with retrospective data collection of 138 patients with Down syndrome from a total of 17,873 records. Descriptive analysis of the data was performed, using Epi-Info version 7.RESULTS: Among the 138 patients with Down syndrome, females prevailed (56.1%) and 112 (81.2%) were diagnosed with congenital heart disease. The most common lesion was ostium secundum atrial septal defect, present in 51.8%, followed by atrioventricular septal defect, in 46.4%. Ventricular septal defects were present in 27.7%, while tetralogy of Fallot represented 6.3% of the cases. Other cardiac malformations corresponded to 12.5%. Pulmonary hypertension was associated with 37.5% of the heart diseases. Only 35.5% of the patients were referred before six months of age.CONCLUSIONS: The low percentage of referral until six months of age highlights the need for a better tracking of patients with Down syndrome in the context of congenital heart disease, due to the high frequency and progression of pulmonary hypertension.

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Congenital Heart Defect and Pulmonary Hypertension in Children With Down Syndrome: Clinical Profile Over Two Decades

Cureus ◽

10.7759/cureus.13212 ◽

2021 ◽

Author(s):

Abdullah N Alhuzaimi ◽

Najoud M Alotaibi ◽

Ghadah I Alsuhaibani ◽

Reem K Alanazi ◽

Mohamad-Hani Temsah

Keyword(s):

Pulmonary Hypertension ◽

Down Syndrome ◽

Congenital Heart Defect ◽

Congenital Heart ◽

Clinical Profile ◽

Children With Down Syndrome ◽

Heart Defect ◽

Hypertension In Children

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Pulmonary hypertension in children with Down syndrome

Pediatric Pulmonology ◽

10.1002/ppul.24687 ◽

2020 ◽

Author(s):

Douglas Bush ◽

Csaba Galambos ◽

David Dunbar Ivy

Keyword(s):

Pulmonary Hypertension ◽

Down Syndrome ◽

Children With Down Syndrome ◽

Hypertension In Children

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Angiogenic profile identifies pulmonary hypertension in children with Down syndrome

Pulmonary Circulation ◽

10.1177/2045894019866549 ◽

2019 ◽

Vol 9 (3) ◽

pp. 204589401986654 ◽

Cited By ~ 3

Author(s):

Douglas Bush ◽

Kristine Wolter-Warmerdam ◽

Brandie D. Wagner ◽

Csaba Galambos ◽

D.Dunbar Ivy ◽

...

Keyword(s):

Pulmonary Hypertension ◽

Down Syndrome ◽

Classification Tree ◽

Children With Down Syndrome ◽

Angiogenic Proteins ◽

Peptide Signals ◽

Low Levels ◽

Cardiac Catheterizations ◽

A Prospective Study ◽

Hypertension In Children

Past studies have shown that lung angiogenic signaling may be abnormal in children with Down syndrome, but whether differences in circulating angiogenic proteins can identify pulmonary hypertension in children with Down syndrome is unknown. A prospective study of 78 children from birth to 21 years of age was conducted to evaluate clinical data, echocardiograms, and cardiac catheterizations. Four patient populations were enrolled, including children with Down syndrome who have pulmonary hypertension (Down syndrome + pulmonary hypertension, n = 12); control children without Down syndrome who have pulmonary hypertension (C + pulmonary hypertension, n = 15); children with Down syndrome without a known diagnosis of pulmonary hypertension (Down syndrome − pulmonary hypertension, n = 26); and children without Down syndrome or a known diagnosis of pulmonary hypertension (C − pulmonary hypertension, n = 25). Blood samples were collected at enrollment and concentrations for 11 proteins were evaluated. A classification tree was created to identify angiogenic peptide signals that may be associated with pulmonary hypertension in children with Down syndrome compared with controls. Findings identified elevated endostatin levels (>4.98 log10 pg/ml) were associated with Down syndrome. Platelet-derived growth factor AA levels (>2.51 log10 pg/ml) were higher in non-Down syndrome patients with pulmonary hypertension (C + pulmonary hypertension), whereas lower angiogenin (<5.428 log10 pg/ml) or lower angiogenin with elevated angiopoietin-1 levels (>3.59 log10 pg/ml) distinguished pulmonary hypertension in those with Down syndrome from the other groups. This study suggests that children with Down syndrome have high endostatin levels, but low levels of angiogenin levels in children with Down syndrome more often identified pulmonary hypertension than Down syndrome subjects without pulmonary hypertension or non-Down syndrome children. We speculate that these changes in circulating peptides support the concept of dysregulated angiogenesis in children with Down syndrome and pulmonary hypertension, which may further support potential utility as biomarkers for identifying subjects with Down syndrome at risk for pulmonary hypertension in this population.

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