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Updated: May 10, 2026
07:34
Fetal Mouse Cardiovascular Imaging Using a High-frequency Ultrasound (30/45MHZ) System
Published on: May 5, 2018
Congenital heart defects and extracardiac malformations
Rosana Cardoso M Rosa1, Rafael Fabiano M Rosa, Paulo Ricardo G Zen
1Programa de Pós-Graduação em Patologia, Universidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, RS, Brasil.
Summary
Extracardiac malformations frequently occur with congenital heart defects, increasing risks. Screening these children for additional abnormalities is crucial for better outcomes.
Area of Science:
- Pediatric Cardiology
- Medical Genetics
- Developmental Biology
Background:
- Congenital heart defects (CHDs) are common and severe birth defects, affecting approximately 40% of all malformations.
- Extracardiac malformations (ECMs) are frequently associated with CHDs, occurring in 7-50% of affected individuals.
Purpose of the Study:
- To review the scientific literature on the association between congenital heart defects and extracardiac malformations.
- To highlight the implications of extracardiac malformations in patients with congenital heart disease.
Main Methods:
- A systematic search of scientific articles was conducted in Medline, Lilacs, and SciELO databases.
- Keywords included "congenital heart disease," "congenital heart defects," "extracardiac defects," and "extracardiac malformations."
- Case series specifically exploring the association between CHDs and ECMs were included in the review.
Main Results:
- Extracardiac malformations are common in patients with congenital heart disease, with urinary tract abnormalities being frequently reported.
- The presence of ECMs significantly increases the risk of comorbidity and mortality in patients with CHDs.
- Existing studies show variability in the assessment of extracardiac abnormalities, with no uniform evaluation across all patients.
Conclusions:
- Extracardiac abnormalities are a frequent comorbidity in congenital heart disease patients, contributing to increased morbimortality.
- The findings underscore the importance of considering extracardiac malformations in the overall management of CHD.
- The cost-effectiveness of screening CHD patients for other malformations using complementary exams is a subject of ongoing discussion.
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