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Related Concept Videos

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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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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.
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Mitral Valve Stenosis (MVS) is a heart condition where the mitral valve narrows, impeding blood circulation from the left atrium to the left ventricle. The etiology and pathophysiology of this condition are multifaceted, leading to a cascade of cardiovascular complications.Causes of Mitral Valve StenosisRheumatic Heart Disease: It is the main cause of mitral valve stenosis, particularly in developing nations. This condition arises from rheumatic fever, an inflammatory illness resulting from...
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Heart failure (HF) is a progressive syndrome involving ventricles that leads to inadequate cardiac output. It can be classified based on location and output or ejection fraction. Ejection fraction (EF) is an essential measurement in the diagnosis and surveillance of HF. Reduced EF corresponds to systolic heart failure (HFrEF). However, HF with preserved ejection fraction (HFpEF) is becoming increasingly prevalent. Also known as diastolic HF, this form of HF is related to aging. The...
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IntroductionThe mitral valve, one of the heart's four valves, regulates blood flow. These valves have flaps that open and close to direct blood properly through the heart and body. During each heartbeat, the flaps open for blood to pass through and seal shut to prevent backflow. Specifically, the mitral valve opens to allow blood flow from the heart's upper left chamber to the lower left chamber. It then closes securely as the lower left chamber contracts to pump blood to the body, preventing...
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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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Related Experiment Video

Updated: Oct 15, 2025

Author Spotlight: Effect of Left Atrial Ligation on Avian Embryonic Hearts and HLHS Implications
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Sequential Defects in Cardiac Lineage Commitment and Maturation Cause Hypoplastic Left Heart Syndrome.

Markus Krane1,2, Martina Dreßen1, Gianluca Santamaria3

  • 1Department of Cardiovascular Surgery, Institute Insure (M.K., M.D., H.L., S.A.D., N.P., I.N., Z.Z., C.A.-A., R.L.),Klinikum rechts der Isar, School of Medicine & Health, Technical University of Munich, Germany.

Circulation
|October 25, 2021
PubMed
Summary

Genetic defects in heart development, specifically hypoplastic left heart syndrome (HLHS), disrupt cardiomyocyte cell cycle and maturation. These intrinsic cellular defects, not just blood flow issues, lead to underdeveloped left ventricles in infants.

Keywords:
autophagycell cycleheart defects, congenitalhypoplastic left heart syndromeinduced pluripotent stem cellsunfolded protein responsewhole exome sequencing

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Area of Science:

  • Cardiovascular Biology
  • Developmental Biology
  • Genetics

Background:

  • Hypoplastic left heart syndrome (HLHS) is a severe congenital heart defect affecting left ventricular development.
  • The exact causes of HLHS remain largely unknown, with hemodynamic factors often presumed to be primary drivers.
  • Understanding the molecular and cellular basis of HLHS is crucial for developing effective interventions.

Purpose of the Study:

  • To investigate the molecular and cellular perturbations underlying ventricular development in HLHS.
  • To identify specific gene programs and cellular processes affected in HLHS.

Main Methods:

  • Whole-exome sequencing of 87 HLHS parent-offspring trios.
  • Nuclear transcriptomics of cardiomyocytes from HLHS patients and controls.
  • Single-cell RNA sequencing and 3D modeling using patient-derived induced pluripotent stem cells.

Main Results:

  • HLHS is associated with alterations in cell cycle regulation and cardiomyocyte maturation during fetal development.
  • Patient-derived stem cells reveal intrinsic defects in the cell cycle, unfolded protein response, and autophagy.
  • Premature cell cycle exit in ventricular cardiomyocytes leads to multinucleation, DNA damage, and apoptosis, contributing to left ventricular hypoplasia.

Conclusions:

  • Genetic mutations in HLHS converge on critical cellular processes governing cardiac myogenesis.
  • Intrinsic cellular defects, including cell cycle dysregulation, play a significant role in HLHS pathogenesis.
  • These findings suggest potential novel therapeutic targets for HLHS focused on cellular repair and regeneration.