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Congenital heart defects in malformation syndromes

A E Lin1

  • 1Department of Pediatrics, University of Pittsburgh School of Medicine, Pennsylvania.

Clinics in Perinatology
|September 1, 1990
PubMed

Insights

This review categorizes congenital heart defects (CHDs) within malformation syndromes by cause. Recognizing specific cardiac patterns aids in identifying syndromes, improving prenatal diagnosis and fetal echocardiography.

Area of Science:

  • Medical Genetics
  • Developmental Biology
  • Cardiology

Background:

  • Congenital heart defects (CHDs) are common in malformation syndromes.
  • Identifying specific cardiac phenotypes can aid in syndrome diagnosis.
  • Understanding the etiological basis of CHDs in syndromes is crucial.

Purpose of the Study:

  • To comprehensively review the types and frequency of CHDs in malformation syndromes.
  • To explore the utility of cardiac phenotypes in identifying specific syndromes.
  • To provide a framework for recognizing patterns of CHDs across different syndromes.

Main Methods:

  • Literature review of congenital heart defects in malformation syndromes.
  • Categorization of syndromes by etiology.
  • Analysis of cardiac phenotypes associated with specific syndromes.
  • Application of a mechanistic classification for CHDs.

Main Results:

  • Certain cardiac phenotypes are highly indicative of specific malformation syndromes.
  • A mechanistic classification of CHDs reveals patterns across syndromes.
  • Awareness of syndrome-specific CHDs enhances diagnostic capabilities.

Conclusions:

  • Cardiac phenotypes are valuable diagnostic markers for malformation syndromes.
  • A mechanistic approach to classifying CHDs facilitates pattern recognition.
  • Knowledge of CHDs in syndromes improves prenatal diagnosis and fetal echocardiography.

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