Down syndrome child with multiple heart diseases: A case report

Area of Science:

• Cardiology
• Genetics
• Pediatrics

Background:

• Down syndrome (trisomy 21) is frequently linked with congenital heart disease (CHD).
• Pulmonary hypertension (PH) can develop early in individuals with Down syndrome due to factors like shunts or airway issues.
• CHD in Down syndrome patients is associated with reduced life expectancy, making surgical intervention critical.

Observation:

• A 13-year-old boy with Down syndrome presented with atrial septal defect and patent ductus arteriosus, complicated by severe pulmonary hypertension.
• Initial surgical treatment recommendations were declined due to high risks, with the patient and family opting for discharge.
• No significant clinical changes were noted during a 6-month follow-up period.

Findings:

• The case underscores the complex interplay between Down syndrome, CHD, and severe PH.
• Diagnostic findings included sinus rhythm, right ventricular hypertrophy, and a 0.813 cm atrial septal defect.
• The patient's refusal of surgery despite recommendation presents a unique clinical scenario.

Implications:

• This case emphasizes the critical need for timely intervention and a multidisciplinary approach in managing Down syndrome patients with CHD and PH.
• Improved understanding and effective interventions are essential to enhance prognosis and longevity for this vulnerable population.
• Further research is warranted to address the specific challenges and optimize care strategies.