Background Trisomy 21 is frequently associated with congenital heart disease (CHD). Survival and life expectancy has increased as a result of surgical intervention and medical therapies. The NORPAP GUCH database, started in 1993, has 2668 patients.
Methodology Patients with Trisomy 21 were selected from the NORPAP database. Population demographics, underlying diagnosis, comorbidities and mortality were analysed.
Results 110 patients had T21; Mean 34 years, Median 30 years, M:F 1.1:1 (Figure 1). Underlying CHD was AV Canal defect 57 (51.8%), VSD 30 (27.3%), Fallot Repair 10 (9.1%), Secundum ASD 6 (5.5%), Bicuspid Aortic Valve 3 (2.7%), Mitral Regurgitation 1 (0.9%), Single Ventricle 1 (0.9%), Pulmonary Stenosis 1 (0.9%), PDA 1 (0.9%). 61 (55%) patients had had surgery. Of those under 40, 51% were unoperated.
Death occurred in 9 patients (9%). Average age at death 46 years. 78% of deaths were in patients with AV Canal defect. Mode of death was cardiac in 8 and PAH-CHD was present in all but one.
Figure 2 shows associated comorbidities. 35% have PAH -– 59% receivetargeted therapy.
Conclusion AV Canal defect was the most frequent underlying CHD in the T21 NORPAP cohort and was associated with the highest mortality. 1/3 of all patients had PAH and 1/4 of these died during follow up. Survival into the 4th and 5th decade is frequent. Patients in the 3rd decade now may expect to survive for another 25–30 years. Ongoing cardiac and non-cardiac morbidity requires dedicated CHD clinics, frequently with PAH clinicians given that 50% of those under 40 have not had surgery and may need targeted therapy.
- Congenital Heart Disease
- Trisomy 21
- Pulmonary Arterial Hypertension
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