Related Experiment Videos
Extracardiac malformations and congenital heart disease: frequency and patterns of associations
G Pongiglione1, M Marasini, D Ribaldone
1Centro di Cardiologia, Istituto G. Gaslini, Genova.
Insights
Congenital Heart Malformations (CHM) frequently co-occur with Extracardiac Malformations (ECM). Specific CHMs like Ventricular Septal Defects (VSD) and Atrioventricular Septal Defects (AVSD) are associated with ECM, while Tetralogy of Fallot (TOF) and Transposition of the Great Arteries (TGA) tend to occur alone.
Area of Science:
- Cardiology
- Pediatrics
- Medical Genetics
Background:
- Congenital Heart Malformations (CHM) and Extracardiac Malformations (ECM) can coexist in individuals.
- The precise frequency and patterns of these associations are not well-established due to limited comparability in existing literature.
- Cardiac catheterization is a diagnostic standard for CHM.
Purpose of the Study:
- To investigate the frequency and patterns of associations between Congenital Heart Malformations (CHM) and Extracardiac Malformations (ECM) in a pediatric cohort.
- To identify specific CHMs that are frequently associated with ECM and those that tend to occur in isolation.
Main Methods:
- Retrospective analysis of cardiac catheterization data from 1012 children between 1976 and 1983.
- Categorization of patients into groups with CHM only and those with both CHM and at least one ECM.
- Statistical analysis to determine significant associations between specific CHMs and ECMs.
Main Results:
- Of 1012 children, 971 had CHM, and 311 of these also had at least one ECM.
- Ventricular Septal Defects (VSD) and Atrioventricular Septal Defects (AVSD) showed significant associations with ECM (p<0.05 and p<0.01, respectively).
- Tetralogy of Fallot (TOF) and isolated Transposition of the Great Arteries (TGA) demonstrated a tendency towards isolated occurrence (p<0.05 and p<0.01, respectively).
- Specific associations included VSD with gastrointestinal anomalies (p<0.05), AVSD with Trisomy 21 (p<0.001), and aortic/supravalvular stenosis with nervous system abnormalities (p<0.05 and p<0.001).
- Pulmonary stenosis showed a slight association with Trisomy 21 (p<0.05).
Conclusions:
- Certain congenital heart defects, such as VSD and AVSD, are significantly associated with extracardiac malformations.
- Other congenital heart defects, like TOF and isolated TGA, are more likely to occur independently.
- These findings contribute to understanding the complex patterns of congenital anomalies and may inform diagnostic and genetic counseling approaches.
Abstract:
Congenital Heart Malformations (CHM) can be present together with Extracardiac Malformations (ECM) in a single individual, however the frequency and the patterns of associations are not well defined because the casistics of the literature are little comparable. The diagnosis of CHM has been demonstrated with cardiac catheterization in any case. Between January 1st, 1976 and December 31st, 1983 cardiac catheterization has been performed in 1012 children and 971 of them were affected by Congenital there was at least one ECM as well (group B); 311 ECM were present in group B. VSD (p less than 0.05) and Atrioventricular Septal Defects (AV.SD) (p less than 0.01) resulted associated with ECM while T.F. (p less than 0.05) and isolated TGA (p less than 0.01) showed the tendency to occur in isolation. VDS resulted associated with gastrointestinal anomalies (p less than 0.05), AV.SD with T21 (p less than 0.001), aortic valve (p less than 0.05) and supra-valve (p less than 0.001) stenosis with Nervous System abnormalities. Pulmonary stenosis showed little tendency to occur together with T21 (p less than 0.05).