Fatima Abeer, Aasim Ayaz Wani, Bisma Javid, Aisha Mahmood, Gazala Andleeb
Government Medical College, Srinagar. National Institute of Technology Srinagar.
India
Cureus
Cureus 2025; 17:
DOI: 10.7759/cureus.84019
Abstract
Infants with Down syndrome (trisomy 21) commonly present with congenital heart defects and immune dysregulation, significantly increasing the risk of early-onset pulmonary arterial hypertension (PAH). Although secundum atrial septal defects (ASDs) are often considered hemodynamically mild in non-syndromic children, they can progress aggressively in the presence of trisomy 21. We describe a six-month-old male infant with karyotype-confirmed trisomy 21 who developed severe PAH secondary to a rapidly enlarging secundum ASD – a highly atypical presentation for an isolated lesion. The infant presented with fever, respiratory distress, vomiting, and diarrhea, alongside a clinical history of neonatal sepsis, recurrent infections, failure to thrive (weight below the 5th percentile), and subclinical hypothyroidism (TSH 8.12 μIU/mL). Echocardiography revealed that the ASD had enlarged from 6 mm at five months to 10 mm, creating a substantial left-to-right shunt (Qp:Qs >1.5:1). Management with IV ceftriaxone, sildenafil (2 mg twice daily), supplemental oxygen, and nutritional support stabilized the infant within five days (SpO₂ 93-94% on room air). He was discharged for deferred surgical ASD closure, highlighting the value of early pulmonary vasodilator therapy as a bridge to definitive repair. This case underscores the markedly increased susceptibility of infants with Down syndrome to severe PAH, even in the setting of a seemingly hemodynamically insignificant ASD. Early cardiac evaluation, prompt intervention, and multidisciplinary management are crucial to preventing irreversible pulmonary vascular disease in this high-risk population.
Category
Genetic Factors Associated with Pulmonary Vascular Disease
Medical Therapy. Efficacy or Lack of Efficacy
Age Focus: Pediatric Pulmonary Vascular Disease
Fresh or Filed Publication: Fresh (PHresh). Less than 1-2 years since publication
Article Access
Free PDF File or Full Text Article Available Through PubMed or DOI: Yes