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Congenital heart disease and Down syndrome: various aspects of a confirmed association
Sanaa Benhaourech1, Abdenasser Drighil1, Ayoub El Hammiri1
1Cardiology Department, University Hospital Ibn Rochd, Casablanca, Morocco.
Insights
Congenital heart disease (CHD) in Down syndrome (DS) patients shows variations globally. In Morocco, atrioventricular septal defects were most common, differing slightly from Western patterns.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Congenital heart disease (CHD) is a leading cause of mortality in infants with Down syndrome (DS).
- Global variations in CHD patterns within the DS population may be influenced by sociodemographic, genetic, and geographic factors.
Purpose of the Study:
- To investigate the specific patterns and outcomes of CHD in children with DS within the Moroccan healthcare system.
- To compare the observed CHD profile in Moroccan DS patients with international data.
Main Methods:
- A retrospective descriptive study was conducted over six years (2008-2014) using the Paediatric Unit CHD registry at Ibn Rochd University Hospital.
- Data on clinical presentation, echocardiographic findings, and patient outcomes were collected and analyzed for 128 DS patients with CHD.
Main Results:
- The most frequent CHD lesions in DS patients were atrioventricular septal defect (AVSD, 29%), ventricular septal defect (VSD, 21.5%), and atrial septal defect (ASD, 19.9%).
- Common CHD associations included AVSD + ASD (10%) and VSD + ASD (7.8%).
- Surgery was the primary treatment (54.3%), with an overall mortality rate of 14.1%.
Conclusions:
- The study identified slight differences in CHD distribution among DS patients in Morocco compared to European and Western countries.
- Further research is necessary to elucidate the factors contributing to these observed variations in CHD patterns.
Background:
Congenital heart disease (CHD) is frequently described in patients with Down syndrome (DS) and is the main cause of death in this population during the first two years of life. The spectrum of CHD patterns in DS varies widely worldwide; this variation could be due to sociodemographic, genetic and geographic factors.
Methods:
A six-year retrospective, descriptive study was carried out from December 2008 to October 2014, based on the Paediatric Unit CHD registry of Ibn Rochd University Hospital. Clinical, echocardiographic and outcomes data were collected and sorted according to confirmation of the syndrome.
Results:
Among 2 156 patients with CHD, 128 were identified with Down syndrome. The genders were equally represented (gender ratio 1) and the median age at diagnosis was 9.5 months (2 days to 16 years). The median age of mothers at delivery was 39 years (16-47). Of the 186 CHD lesions reported, the most common was atrioventricular septal defect (AVSD, 29%), followed by ventricular septal defect (VSD, 21.5%) and atrial septal defect (ASD, 19.9%). The most common associations of CHD were AVSD + ASD (10%) and VSD + ASD (7.8%). Surgery was the most common modality of treatment (54.3%). The overall mortality rate was 14.1%.
Conclusion:
Our study confirmed that the profile and type of CHD in DS in the Moroccan setting exhibited slight differences in the distribution of these CHDs compared with European neighbours and other Western countries. Further studies are needed to determine which variables have an impact on these differences.
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