Genetic Syndromes and Multimorbidity in Adults with Congenital Heart Disease and Heart Failure: Insights from the PATHFINDER-CHD Registry - PubMed
8 days ago
- #genetic syndromes
- #heart failure
- #congenital heart disease
- The PATHFINDER-CHD Registry tracks adults with congenital heart disease (ACHD) and heart failure (HF), including those with genetic syndromes.
- Among 1987 ACHD patients, 107 (5.4%) had genetic syndromes, with trisomy 21 (45.8%) and 22q11.2 deletion (25.2%) being the most common.
- Predominant congenital heart defects included atrioventricular septal defect (39.3%), tetralogy of Fallot (17.8%), and pulmonary atresia with ventricular septal defect (6.5%).
- Most patients (66.4%) had undergone surgical repair, and 23.3% had catheter interventions, including transcatheter valve implantation in 15.9%.
- HF stages were mainly B (28.0%) or C (70.1%), with 90.7% of patients in Perloff functional class I/II.
- Common cardiac comorbidities included intrinsic aortopathy (45.8%), pulmonary arterial hypertension (11.2%), and arrhythmias (9.3%).
- Extracardiac comorbidities included thyroid dysfunction (31.8%), kidney disease (15.0%), hyperuricemia (12.1%), and depression (14.0%).
- Pharmacotherapy was used in 61.7% of patients, with beta-blockers (23.4%) being common, while ACEi/ARB (8.4%), diuretics (9.3%), and MRAs (7.5%) were less frequently prescribed.
- Specialized, interdisciplinary care is recommended for syndromic ACHD patients due to their complex conditions and low utilization of contemporary HF therapies.