Top Things to Know: Trisomy 21 and Congenital Heart Disease: Impact on Health and Functional Outcomes from Birth Through Adolescence
Published: September 12, 2024
Prepared by Stephanie Helman, PhD, RN, CCRN, CCNS, University of Pittsburgh School of Medicine
- Congenital HD lesions common in T21 may be difficult to appreciate on fetal imaging. Therefore, a postnatal echocardiogram in the setting of normal fetal imaging is important to rule out abnormalities.
- Addressing the risks for the development or exacerbation of pulmonary hypertension (PHTN) including post-tricuspid shunt lesions, earlier onset elevated pulmonary vascular resistance from persistent neonatal PHTN, congenital HD lesions, pulmonary vascular hypoplasia, obstructive sleep apnea; and aspiration is important in determining the need for earlier surgical intervention.
- Chronic constipation due to Hirschsprung disease, celiac disease (prevalence is 6 times higher compared to the general population), hypothyroidism, and dietary and behavioral causes are common in children with T21.
- In almost all infants (75%) with T21, dysphagia, gastroesophageal reflux, hypotonia, and anatomic factors including small jaw, macroglossia, and high palatal arch, contribute to feeding and swallowing difficulties.
- Children who have both congenital heart disease (HD) and T21 require comprehensive evaluations and long-term follow-up care to accurately differentiate between non-mental health-related conditions and mental health/ psychiatric disorders.
- Despite a higher likelihood of obesity, adults with T21 have lower risks for common adult-acquired cardiovascular diseases such as hypertension, hypercholesterolemia, coronary artery disease, and diabetes.
- Children with T21 are listed for heart transplantation at a disproportionately lower rate than the general pediatric transplant population, most likely due to intellectual delay or disability, PHTN, immunodeficiency, and malignancy being contraindications for solid organ transplant.
- In persons with T21 who want to manage their personal and intimate relationships independently, discussions should include family planning, the acknowledgment that infertility in males with T21 is common, the risks for offspring T21 inheritability, and the abilities/resources available to parent a child.
- Establishing a medical home for individuals with congenital HD and T21 will promote continuity of care, family-centered care, health promotion, and advocacy.
- Patients with both congenital HD and T21 benefit from access to a care coordinator who can assist with maintaining health insurance coverage, utilizing a transition readiness assessment, and developing a portable medical summary that serves as a reference throughout their transition to adult care.
Citation
Peterson JK, Clarke S, Gelb BD, Kasparian NA, Kazazian V, Pieciak K, Pike NA, Setty SP, Uveges MK, Rudd NA; on behalf of the American Heart Association Pediatric Cardiovascular Nursing Committee of the Council on Cardiovascular and Stroke Nursing; Council on Clinical Cardiology; Council on Genomic and Precision Medicine; and Council on Cardiovascular Radiology and Intervention. Trisomy 21 and congenital heart disease: impact onhealth and functional outcomes from birth through adolescence: a scientific statement from the American HeartAssociation. J Am Heart Assoc. 2024;13:e036214. DOI: 10.1161/JAHA.124.036214.