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A Pipeline to Characterize Structural Heart Defects in the Fetal Mouse
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Heart Development and Congenital Structural Heart Defects

Lucile Houyel1,2, Sigolène M Meilhac2,3

  • 1Unité de Cardiologie Pédiatrique et Congénitale and Centre de Référence des Malformations Cardiaques Congénitales Complexes (M3C), Hôpital Necker-Enfants Malades, Assistance Publique-Hôpitaux de Paris (AP-HP), 75015 Paris, France.

Annual Review of Genomics and Human Genetics
|June 1, 2021
PubMed

Insights

Congenital heart defects (CHDs) are common birth defects. Understanding their genetic origins is crucial for improving diagnosis and treatment, though 80% remain unknown.

Area of Science:

  • Cardiology
  • Developmental Biology
  • Genetics

Background:

  • Congenital heart disease (CHD) is the most common birth defect and a leading cause of infant mortality.
  • Despite historical descriptions, standardized nomenclature (2005) and classification (2017) for CHDs are relatively recent.
  • Significant advancements in genetic and imaging technologies have illuminated heart development, yet the genetic basis for most CHDs remains elusive.

Purpose of the Study:

  • To synthesize current knowledge on congenital structural heart defects.
  • To bridge clinical and fundamental research in CHD.
  • To encourage interdisciplinary collaboration for advancing CHD understanding and patient care.

Main Methods:

  • Review of clinical and fundamental research findings on congenital structural heart defects.
  • Analysis of advancements in genetic engineering, imaging, and omics.
  • Discussion of current challenges and future directions in CHD research.

Main Results:

  • Congenital heart defects exhibit significant phenotypic diversity, necessitating expert diagnosis and surgical intervention.
  • While animal models have revealed insights into heart formation, approximately 80% of human CHDs lack a known genetic cause.
  • International efforts have established nomenclature and classification systems to standardize CHD management.

Conclusions:

  • Interdisciplinary collaboration is essential to address the complexities of congenital heart defects.
  • Further research into the unknown genetic origins of CHDs is critical for improving patient outcomes.
  • Continued integration of clinical and basic science research will drive progress in understanding and treating CHDs.

Keywords:
ICD-11International Paediatric and Congenital Cardiac Codecongenital heart defectsconotruncal defectsembryonic heartheart morphogenesislaterality defectsmouse modelsseptal defectsvalve defects

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