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Understanding normal cardiac morphogenesis and its disruptions: a journey through pathways
Aline L Saliba1,2, Jorge Afiune3, Aline Pic-Taylor1,4,5
1Programa de Pós-graduação em Ciências Médicas, Universidade de Brasília, Brasília, Brazil.
Insights
Congenital heart diseases (CHDs) are common birth defects with complex genetics. Understanding normal heart development provides a framework to interpret genetic findings and improve diagnosis for CHDs.
Area of Science:
- Developmental Biology
- Clinical Genetics
- Cardiology
Background:
- Congenital heart diseases (CHDs) are the most common birth defects, causing significant pediatric morbidity and mortality.
- Genetic causes for CHDs are identified in less than half of cases, complicating clinical interpretation.
- Current understanding often struggles to link genetic variants to specific developmental pathways causing malformations.
Purpose of the Study:
- To provide a developmental framework for understanding CHDs.
- To integrate embryological events with genetic and molecular pathways in heart formation.
- To aid clinicians in interpreting genotype-phenotype correlations for CHDs.
Main Methods:
- This narrative review synthesizes current knowledge on normal cardiogenesis.
- It integrates embryological events, progenitor cell populations, transcription factor networks, and signaling pathways.
- The review analyzes how disruptions in these developmental modules lead to syndromic and non-syndromic CHDs.
Main Results:
- Normal cardiogenesis is presented as a coordinated developmental program.
- Perturbations in specific developmental modules are linked to various CHDs.
- A framework is established to align embryological events with their regulatory logic.
Conclusions:
- Understanding the regulatory logic of heart development is crucial for interpreting CHD genetics.
- This developmental framework can sharpen genotype-phenotype interpretation and diagnostic reasoning.
- The insights can inform future regenerative strategies for congenital heart malformations.
Abstract:
Congenital heart diseases (CHDs) encompass a broad spectrum of structural anomalies with substantial clinical and genetic heterogeneity. They are the most common birth defects in humans, and a leading cause of paediatric morbidity and mortality. Yet, its genetic substrate remains difficult to interpret at the bedside: despite advances in cytogenetics and next-generation sequencing, a definitive or candidate genetic cause is identified in fewer than half of cases, and even when a variant is recovered, mapping it onto the developmental program that produces a specific malformation is rarely straightforward for the practising clinician. This narrative review revisits normal cardiogenesis as a single, coordinated developmental program, integrating embryological events with progenitor populations, transcription factor networks, and signalling pathways. We then highlight how perturbation of these developmental modules may result in syndromic and non-syndromic CHD. By aligning embryological events with their regulatory logic, the review offers a developmental framework intended to help clinicians situate molecular findings within the biology of heart formation, sharpen genotype-phenotype interpretation, support more precise diagnostic and prognostic reasoning, and inform emerging regenerative strategies for the malformed and injured heart.
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