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Related Concept Videos

Development of the Heart01:27

Development of the Heart

The development of the human heart, a crucial organ, commences from the mesoderm on the 18th or 19th day after fertilization. This process initiates in the cardiogenic area, a group of mesodermal cells at the embryo's head end, which evolves into elongated strands known as cardiogenic cords. These cords undergo a transformation to form hollow-centered endocardial tubes.
As the embryo undergoes lateral folding, these paired tubes approach each other, merging into a single primitive heart tube by...
Cardiomyopathy I: Introduction and Classification01:25

Cardiomyopathy I: Introduction and Classification

Cardiomyopathy, or CMP, is a group of diseases affecting the myocardial structure, impairing its ability to pump blood effectively. This condition can lead to arrhythmias, heart failure, or sudden cardiac death.Cardiomyopathies are classified into primary and secondary categories:Primary Cardiomyopathy refers to conditions involving only the heart muscle that are often idiopathic (of unknown cause) or genetic. They primarily affect the myocardium without the involvement of other systemic...
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Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...

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Related Experiment Video

Updated: May 12, 2026

Analysis of Cardiomyocyte Development using Immunofluorescence in Embryonic Mouse Heart
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Integrative single-cell analysis of cardiogenesis identifies developmental trajectories and non-coding mutations in

Mohamed Ameen1, Laksshman Sundaram2, Mengcheng Shen3

  • 1Department of Cancer Biology, Stanford University, Stanford, CA, USA; Illumina Artificial Intelligence Laboratory, Illumina Inc, Foster City, CA, USA.

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|December 23, 2022
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Summary

This study maps cardiac cell development using single-cell epigenomics, revealing key transcription factor roles and identifying genetic variations linked to congenital heart disease (CHD). Findings aid in understanding heart development and CHD origins.

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Area of Science:

  • Cardiovascular Biology
  • Epigenetics
  • Developmental Biology

Background:

  • Understanding cardiac cellular development requires detailed epigenomic and transcriptional mapping.
  • Human fetal heart development involves complex differentiation pathways and regulatory networks.

Purpose of the Study:

  • To define the multi-cellular epigenomic and transcriptional landscape of human cardiac development.
  • To identify regulatory elements and transcription factor (TF) activities driving cardiac cell differentiation.
  • To investigate the genetic basis of congenital heart disease (CHD) by analyzing regulatory variations.

Main Methods:

  • Generated single-cell chromatin accessibility maps from human fetal heart tissues.
  • Utilized deep learning models to interpret TF motif lexicons from accessibility profiles.
  • Contrasted in vivo and induced pluripotent stem cell (iPSC)-derived cardiac cell regulatory landscapes.
  • Analyzed de novo mutations in CHD patients versus controls.

Main Results:

  • Identified eight major cardiac cell differentiation trajectories with dynamic TF activity signatures.
  • Optimized in vitro differentiation of epicardial cells by contrasting regulatory landscapes.
  • Deciphered cell-type-resolved cis-regulatory sequence determinants of heart development.
  • Found enrichment of mutations affecting chromatin accessibility in arterial endothelium of CHD cases.

Conclusions:

  • This work provides a comprehensive map of cardiac development regulatory sequences.
  • Disruption of cell type-specific regulatory elements is implicated in congenital heart disease.
  • Findings offer insights into optimizing stem cell-based cardiac therapies and understanding CHD etiology.