Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Concept Videos

Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

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...
Pleiotropy01:33

Pleiotropy

Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
Sex-linked Disorders01:43

Sex-linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
Incomplete Dominance01:43

Incomplete Dominance

Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
Sex Linked Disorders01:43

Sex Linked Disorders

Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Humanin Mitigates Aβ-Induced Retinal Pigment Epithelium Injury via AMPK-Beclin1-Dependent Mitophagy.

Aging cell·2026
Same author

Optical coherence tomography-guided PCI in left anterior descending versus non-left anterior descending lesions: a prespecified substudy of the OCCUPI trial.

The international journal of cardiovascular imaging·2026
Same author

Sex Differences in Prognostic Implications of CYP2C19 Genotype After Drug-Eluting Stent Implantation.

Journal of the American Heart Association·2026
Same author

2025 Clinical Practice Guidelines for the Management of Fontan Patients in Korea: A Consensus Statement With Graded Recommendations by the Committee for Clinical Practice Guidelines on Fontan Patients.

Korean circulation journal·2026
Same author

Bayesian Pairwise Compositional Lotka-Volterra Modeling Infers Potential Rhizosphere Microbial Suppressors of Ralstonia pseudosolanacearum.

The plant pathology journal·2026
Same author

Role of <i>Bacillus</i> Species in Food Industry: Advantages and Limitations.

Journal of microbiology and biotechnology·2025
Same journal

The Persistent Challenge of Cardiogenic Shock Complicating Acute Myocardial Infarction: Insights From a Korean Nationwide Registry.

Korean circulation journal·2026
Same journal

2026 Focus Update of the 2021 Korean Society of Myocardial Infarction Expert Consensus Document on Revascularization for Acute Coronary Syndromes.

Korean circulation journal·2026
Same journal

Mitral Annular and Aortic Calcification in Aortic Stenosis: Risk Marker or Bystander?

Korean circulation journal·2026
Same journal

The Quest for Longevity in Pulmonary Valve Replacement: Translating Experimental Insights Into Surgical Excellence.

Korean circulation journal·2026
Same journal

17-Year Coronary Angiographic Series of Sirolimus-Eluting Stent-Induced Giant Aneurysms: Stent-Assisted Coil Embolization.

Korean circulation journal·2026
Same journal

Illuminating the Role of RNA Epigenetics in Abdominal Aortic Aneurysm: The Impact of YTHDF3 on Vascular Smooth Muscle Cell Fate.

Korean circulation journal·2026
See all related articles

Related Experiment Video

Updated: May 31, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Heterotaxy syndrome.

Soo-Jin Kim1

  • 1Division of Pediatric Cardiology, Department of Pediatrics, Konkuk University Hospital, Seoul, Korea.

Korean Circulation Journal
|July 7, 2011
PubMed
Summary
This summary is machine-generated.

Heterotaxy, a condition of abnormal organ arrangement, involves complex heart defects. Surgical outcomes for heterotaxy patients are improving and now comparable to those with Fontan circulation.

Keywords:
HeterotaxyIsomerism

More Related Videos

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Related Experiment Videos

Last Updated: May 31, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations

Published on: December 1, 2017

Area of Science:

  • Cardiology
  • Developmental Biology
  • Medical Genetics

Background:

  • Heterotaxy is a congenital disorder characterized by abnormal left-right positioning of thoraco-abdominal organs.
  • It encompasses a spectrum of conditions, including asplenia syndrome, polysplenia syndrome, and atrial appendage isomerism (right or left).
  • Patients often present with complex congenital heart disease, significantly impacting morbidity and mortality.

Purpose of the Study:

  • To review the classification and treatment strategies for heterotaxy syndrome.
  • To analyze the surgical outcomes and long-term prognosis for patients with heterotaxy, particularly in relation to biventricular repair and Fontan-type palliation.
  • To highlight recent advancements in medical and surgical management.

Main Methods:

  • Review of existing literature on heterotaxy syndrome, focusing on diagnostic criteria, surgical interventions, and patient outcomes.
  • Stratification of patients based on isomerism type (right vs. left) and associated cardiac anomalies.
  • Analysis of treatment pathways, including palliative and definitive surgical repairs like biventricular strategies and Fontan circulation.

Main Results:

  • Heterotaxy patients exhibit diverse cardiac malformations, with left isomerism generally associated with less severe defects than right isomerism.
  • Biventricular repair is more feasible in some left isomerism cases, while many patients, especially with right isomerism, require palliative staged procedures leading to Fontan-type repair.
  • Despite high mortality historically, recent medical and surgical advances have improved survival rates, making outcomes comparable to non-heterotaxy Fontan patients.

Conclusions:

  • Treatment for heterotaxy is tailored to the specific cardiac and extracardiac anomalies present.
  • While complete anatomical correction is rare, modern surgical and medical management has significantly improved the long-term survival and quality of life for affected individuals.
  • Surgical outcomes for heterotaxy patients undergoing palliative strategies are now comparable to those with similar cardiac conditions without heterotaxy.