Cureus. 2025 Jun 24;17(6):e86689. doi: 10.7759/cureus.86689. eCollection 2025 Jun.
ABSTRACT
Introduction Trisomy 21 (T21), or Down syndrome, is frequently associated with congenital heart defects (CHDs). This study aims to describe the epidemiological, clinical, and para-clinical profile of CHDs in children with trisomy 21 while highlighting the specific challenges encountered in the Oriental region of Morocco. Methods This is a retrospective descriptive study conducted over a nine-year period (January 2015 to December 2023) at the Mohammed VI University Hospital Center (CHU Mohammed VI) in Oujda. It included 167 children with trisomy 21 who were referred for cardiologic evaluation, whether symptomatic or screened systematically. All patients underwent echocardiographic assessment performed by a pediatric cardiologist following the guidelines of the American Society of Echocardiography (ASE). Data were collected from medical records and the Hosix software (SIVSA, Vigo, Spain), an electronic health record system. Results Among the 167 children, 103 (61.6%) had confirmed congenital heart defects. The average age at diagnosis was 14 months, with the majority being diagnosed after 24 months. Trisomy 21 was confirmed by karyotyping. Most children were referred due to clinical symptoms (feeding difficulties, respiratory distress, cyanosis, sweating, and malaise), while others were referred after an incidental murmur or systematic screening. The most common defects were complete atrioventricular septal defect (AVSD), followed by ventricular septal defect (VSD), atrial septal defect (ASD), isolated patent ductus arteriosus (PDA), tetralogy of Fallot (ToF), and transposition of the great vessels (TGV), along with rarer anomalies. Pulmonary hypertension (PH), assessed via echocardiographic criteria, was found in 17 patients, with six being deemed inoperable. Of the 103 children with CHDs, 28 underwent surgical correction, 63 received medical follow-up, and 12 were under palliative care. The low surgical intervention rate was due to various factors: late diagnosis, parental refusal, or limited access to specialized care. Postoperative follow-up was incomplete, limiting outcome evaluation. Conclusion This study highlights the challenges of the early diagnosis and optimal management of CHDs in children with trisomy 21 in a resource-limited region. It emphasizes the need to strengthen neonatal screening programs, unify evaluation protocols, and improve access to surgical care to enhance outcomes and long-term survival for these patients.
PMID:40718231 | PMC:PMC12289398 | DOI:10.7759/cureus.86689
