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Clinical Characteristics and Risk Factors for Developing Pulmonary Hypertension in Children with Down Syndrome
Douglas Bush1, Csaba Galambos2, D Dunbar Ivy3
1Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, NY.
Insights
Pulmonary hypertension affects 28% of children with Down syndrome, often transient and linked to heart conditions. Recurrence is associated with respiratory issues like sleep apnea.
Area of Science:
- Pediatric Cardiology
- Pulmonology
- Genetics
Background:
- Down syndrome is associated with an increased risk of cardiovascular and respiratory complications.
- Pulmonary hypertension (PH) is a serious condition that can affect children with Down syndrome.
- Understanding the incidence and characteristics of PH in this population is crucial for timely diagnosis and management.
Purpose of the Study:
- To determine the incidence and characteristics of pulmonary hypertension in children with Down syndrome.
- To identify risk factors associated with the development and recurrence of pulmonary hypertension in this cohort.
- To differentiate between transient, persistent, and recurrent forms of PH.
Main Methods:
- Retrospective review of clinical data and serial echocardiograms for 1242 children with Down syndrome.
- Evaluation of medical records from a specialized referral center.
- Classification of PH based on echocardiographic evidence and clinical course (transient, persistent, recurrent).
Main Results:
- The incidence of pulmonary hypertension was 28% (346/1242) in children with Down syndrome.
- PH was predominantly transient (70%), with a median duration of 8 months; 15% were persistent and 15% recurrent.
- Common associations included congenital heart disease (45%) and persistent pulmonary hypertension of the newborn (38%). Recurrent PH was linked to obstructive sleep apnea, hypoxia, and pneumonia.
Conclusions:
- Pulmonary hypertension is a common comorbidity in children with Down syndrome.
- While often transient and related to congenital heart disease or PPHN, PH can recur, particularly in the context of respiratory conditions.
- Early identification and monitoring for PH and its associated risk factors are essential in managing children with Down syndrome.
Objectives:
To determine the incidence, characteristics of, and risk factors contributing to the development of pulmonary hypertension in children with Down syndrome.
Study Design:
This retrospective, review of a large cohort (n = 1242) of children with Down syndrome receiving care at a specialized referral center evaluated clinical data and serial echocardiograms from a clinic database and electronic medical records. Pulmonary hypertension characteristics and comorbidities were reviewed. Pulmonary hypertension was considered transient if echocardiographic evidence of pulmonary hypertension resolved without recurrence, persistent if no resolution, and recurrent if evidence of pulmonary hypertension returned after a period of resolution.
Results:
The incidence of pulmonary hypertension in children with Down syndrome was 28% (n = 346). Median age at initial diagnosis was 5 days (range: 0-7067 days). Pulmonary hypertension was differentiated into transient (70%), persistent (15%), and recurrent (15%) disease. Median duration of transient pulmonary hypertension was 8 months (range: 0.1-130.2 months). Median age at recurrence was 2.5 years (range 0.2-11.5 years). Initial pulmonary hypertension diagnosis was classified as World Health Organization group I disease in 82%, with 45% associated with congenital heart disease (CHD), and 38% persistent pulmonary hypertension of the newborn (PPHN). The pulmonary hypertension recurrence rate was significant and similar for both those with initial PPHN (12%) and non-PPHN (16%). A majority (87%) of patients with recurrent pulmonary hypertension were classified as World Health Organization group III. Frequently identified comorbid conditions included CHD, obstructive sleep apnea, intermittent hypoxia, and recurrent pneumonia.
Conclusions:
Pulmonary hypertension is common in children with Down syndrome, is typically transient, and related to CHD or PPHN but can recur in the setting of respiratory disease such as obstructive sleep apnea, intermittent hypoxia, and recurrent pneumonia.
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