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Syndromes and malformations associated with congenital heart disease in a population-based study
1Paediatric Department, St. Luke's Hospital, Guardamangia, Malta. victor.e.grech@magnet.mt
Insights
Congenital heart disease (CHD) is often linked with other birth defects and chromosomal issues. This study in Malta found musculoskeletal anomalies were most common, with Down syndrome linked to 95% of syndromic CHD cases.
Area of Science:
- Pediatric Cardiology
- Clinical Genetics
- Public Health Surveillance
Background:
- Congenital cardiac malformations frequently co-occur with extracardiac anomalies and chromosomal abnormalities.
- Effective management of congenital heart disease (CHD) necessitates understanding these associated conditions.
- Echocardiographic screening of infants with suspected syndromes or multiple malformations is crucial for comprehensive diagnosis.
Purpose of the Study:
- To investigate the association between congenital heart disease and extracardiac anomalies in Malta's population.
- To classify malformations using the EUROCAT method and analyze their prevalence.
- To compare findings with previous studies and identify reasons for disparities.
Main Methods:
- Retrospective analysis of congenital heart disease cases in Malta between 1990-1994.
- Classification of malformations using the EUROCAT methodology.
- Echocardiographic screening of infants with syndromic or multiple malformations.
Main Results:
- The birth prevalence of CHD was 8.8/1000 live births.
- Chromosomal anomalies were present in 9% of CHD cases; Down syndrome accounted for 95% of syndromic CHD.
- Musculoskeletal anomalies were the most frequent non-cardiac malformations.
- Isolated ventricular septal defect was the most common lesion in Down syndrome, potentially due to early detection.
Conclusions:
- Wide disparities exist in CHD association studies, likely due to methodological differences.
- Early and comprehensive screening identifies a spectrum of CHD, including smaller lesions.
- Understanding co-occurring anomalies is vital for managing infants with congenital heart disease.
Abstract:
Congenital cardiac malformations are frequently associated with non-cardiac malformations and chromosomal anomalies. Management is therefore influenced by interventional needs for all of the various anomalies. We have studied the association of congenital heart disease with extracardiac anomalies in the relatively closed population of Malta, where echocardiographic screening of all syndromic/multiply malformed infants is routinely carried out. Malformations were classified by using the EUROCAT method, for the first time. During 1990-1994, the birth prevalence of congenital heart disease was 8.8/1000 live births (n = 231). Of these, 21 (9%) had recognised chromosomal anomalies (0.80/1000 live births; 95% CI: 0.51-1.25), four (2%) had recognised non-chromosomal syndromes and 14 (6%) had other, major, non-cardiac malformations (0.69/1000 live births; 95% CI: 0.42-1.11). The commonest non-cardiac anomalies were musculoskeletal anomalies. Down syndrome accounted for 95% of all syndromic congenital heart disease, with a birth prevalence of 0.73/1000 live births (95% CI: 0.45-1.16). Comparison of these results with earlier studies showed wide disparities between studies, and this was attributed to differences in methods. such as differing inclusion criteria for both congenital heart disease and syndromes and malformations. The commonest lesion found in association with Down syndrome was isolated ventricular septal defect, not atrioventricular septal defect, and this was attributed to our screening process which identifies small lesions which would otherwise have been clinically missed and/or closed spontaneously.