Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Related Concept Videos

Cardiomyopathy III: Hypertrophic Cardiomyopathy

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...

Dysrhythmias IV: Characteristics of Bradyarrhythmias

Dysrhythmias IV: Characteristics of Bradyarrhythmias

Bradyarrhythmias are cardiac rhythm disorders characterized by a slower-than-normal heart rate, typically defined as fewer than 60 beats per minute. Some of which are discussed here:Sinus BradycardiaSinus bradycardia presents a heart rate lower than 60 beats per minute, with a regular rhythm originating from the SA node. The ECG typically shows normal P waves preceding each QRS complex, a normal PR interval (0.12 to 0.20 seconds), and a normal QRS duration (0.06 to 0.10 seconds).First-Degree AV...

Dysrhythmias III: Characteristics of Dysrhythmias

Dysrhythmias III: Characteristics of Dysrhythmias

Dysrhythmias, also known as arrhythmias, are irregular heart rhythms that result from abnormal electrical activity in the heart, affecting its ability to circulate blood efficiently. Tachyarrhythmias, a subset of dysrhythmias, are characterized by abnormally fast heart rates exceeding 100 beats per minute. Here are some types of tachyarrhythmias with their distinct ECG features:Sinus Tachycardia:Sinus tachycardia presents a regular heart rhythm with an increased rate of 101-180 beats per...

Pleiotropy

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,...

Quartile

Quartile

Quartiles are numbers that separate the data into quarters. Quartiles may or may not be part of the data. To find the quartiles, first, find the median or second quartile. The first quartile, Q1, is the middle value of the lower half of the data, and the third quartile, Q3, is the middle value, or median, of the upper half of the data. To get the idea, consider the same data set:
1; 1; 2; 2; 4; 6; 6.8; 7.2; 8; 8.3; 9; 10; 10; 11.5
The median or second quartile is seven. The lower half of the...

Detection of Gross Error: The Q Test

Detection of Gross Error: The Q Test

When one or more data points appear far from the rest of the data, there is a need to determine whether they are outliers and whether they should be eliminated from the data set to ensure an accurate representation of the measured value. In many cases, outliers arise from gross errors (or human errors) and do not accurately reflect the underlying phenomenon. In some cases, however, these apparent outliers reflect true phenomenological differences. In these cases, we can use statistical methods...

You might also read

Related Articles

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

Sort by

Same author

Perioperative management of patients with congenital or acquired disorders of the QT interval.

British journal of anaesthesia·2018

Same author

Cardiovascular safety of prokinetic agents: A focus on drug-induced arrhythmias.

Neurogastroenterology and motility·2018

Same author

Visible Human Project: From Data to Knowledge.

Yearbook of medical informatics·2016

Same author

A Standards-Based Architecture Proposal for Integrating Patient mHealth Apps to Electronic Health Record Systems.

Applied clinical informatics·2015

Same author

Beyond the cardiac myofilament: hypertrophic cardiomyopathy- associated mutations in genes that encode calcium-handling proteins.

Current molecular medicine·2012

Same author

The Achilles' heel of cardiovascular genetic testing: distinguishing pathogenic mutations from background genetic noise.

Clinical pharmacology and therapeutics·2011

Same journal

Hemangiomas: Beyond the Skin.

Pediatrics in review·2026

Same journal

More Than Innocent: A Continuous Murmur in an Infant.

Pediatrics in review·2026

Same journal

Genetic Testing.

Pediatrics in review·2026

Same journal

Visual Diagnosis: Term Infant With a Hemorrhagic Dermatologic Lesion.

Pediatrics in review·2026

Same journal

Long-Term Complications of Sickle Cell Disease.

Pediatrics in review·2026

Same journal

Pediatric Multisystemic Illness With Cardiac Involvement: A Diagnostic Challenge.

Pediatrics in review·2026

See all related articles

Search research articles

Related Experiment Video

Updated: Jan 2, 2026

Electrocardiogram Recordings in Anesthetized Mice using Lead II

Electrocardiogram Recordings in Anesthetized Mice using Lead II

Published on: June 20, 2020

The long QT syndrome

¹Department of Pediatrics and Adolescent Medicine, Mayo Eugenio Litta Children's Hospital, Mayo Foundation, Rochester, MN, USA.

Pediatrics in Review

|July 9, 1998

Summary

This summary is machine-generated.

Long QT syndrome (LQTS) cases have increased due to greater awareness, not necessarily more mutations. Early identification of this heart condition is crucial for preventing sudden cardiac death.

More Related Videos

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

Related Experiment Videos

Last Updated: Jan 2, 2026

Electrocardiogram Recordings in Anesthetized Mice using Lead II

Electrocardiogram Recordings in Anesthetized Mice using Lead II

Published on: June 20, 2020

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene

Published on: September 16, 2019

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

Area of Science:

Cardiology
Genetics
Electrophysiology

Background:

Long QT syndrome (LQTS) was historically considered a rare condition.
Jervell and Lange-Nielsen syndrome is a rare form of LQTS associated with deafness.
Romano-Ward syndrome represents the more common inherited form of LQTS.

Observation:

The reported incidence of inherited LQTS (Romano-Ward syndrome) has significantly increased over the last 10-20 years.
This rise is unlikely due to increased genetic mutations or consanguinity.
Increased physician awareness and diagnostic capabilities are key factors.

Findings:

LQTS is an electrical disorder of the heart.
Electrocardiographic identification is essential for diagnosis.
Increased awareness has led to more frequent identification of LQTS cases.

Implications:

Physicians must understand LQTS's core elements and presentations.
Early and accurate diagnosis of LQTS is critical.
Prompt identification allows for intervention to prevent sudden cardiac death.