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Related Concept Videos

Electrocardiogram01:29

Electrocardiogram

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An electrocardiogram (ECG or EKG) is a critical diagnostic tool that records the electrical signals produced by the heart during each heartbeat. This recording is achieved through electrodes placed strategically on the arms, legs, and chest. The electrocardiograph amplifies these signals and produces 12 distinct tracings, offering a comprehensive understanding of the heart's electrical activity.
Three major waveforms are present in a typical ECG recording: the P wave, the QRS complex, and...
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ECG Interpretation of Arrhythmias II: Atrial, Junctional and Ventricular Arrhythmias01:25

ECG Interpretation of Arrhythmias II: Atrial, Junctional and Ventricular Arrhythmias

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Arrhythmia is a condition characterized by an irregular heart rhythm, with ECG changes that differ based on its origin and nature. The types of arrhythmias discussed below include atrial, junctional, and ventricular arrhythmias.Atrial ArrhythmiasPremature Atrial Complexes (PACs): PACs are early atrial beats caused by stress, caffeine, alcohol, electrolyte imbalances, hypoxia, hyperthyroidism, or certain medications (e.g., bronchodilators and decongestants). The ECG shows early P waves with an...
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Electrocardiogram Fundamentals01:28

Electrocardiogram Fundamentals

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Introduction
An electrocardiogram (ECG) is a diagnostic tool for identifying cardiac conditions such as arrhythmias, conduction abnormalities, and myocardial ischemia.
Definition
An electrocardiogram (ECG) visualizes the heart's electrical activity by tracing the electrical movement associated with each heartbeat on a graph or monitor. As the heart beats, an electrical wave passes through it, correlating with the cardiac cycle events.
Parts of an ECG
An ECG utilizes electrodes on the skin...
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Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

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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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Correlation between ECG and Cardiac Cycle01:25

Correlation between ECG and Cardiac Cycle

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The electrical signals recorded on an electrocardiogram (ECG) occur before the mechanical processes of contraction and relaxation during the cardiac cycle.
A cardiac action potential originates in the SA node and spreads throughout the atria and the AV node in approximately 0.03 seconds. This results in the P wave in an ECG and triggers atrial contraction. The action potential is then briefly slowed at the AV node, allowing the atria to contract and fill the ventricles with blood before...
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Disturbances in Heart Rhythm01:29

Disturbances in Heart Rhythm

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Arrhythmia or dysrhythmia refers to an abnormal heart rhythm caused by a defect in the heart's conduction system. It can cause the heart to beat irregularly, too quickly, or too slowly, leading to symptoms like chest pain, shortness of breath, and fainting. Factors such as stress, caffeine, alcohol, nicotine, cocaine, certain drugs, congenital defects, diseases, and electrolyte abnormalities can trigger arrhythmias.
Arrhythmias are categorized by their speed, rhythm, and origin. A slow heart...
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Related Experiment Video

Updated: Aug 23, 2025

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

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Same family, same mutation, different ECG.

Kürşat Akbuğa1, Mustafa Karanfil2

  • 1Cardiology Department, Faculty of Medicine, TOBB ETU, Ankara, Turkey.

Molecular Genetics & Genomic Medicine
|October 28, 2022
PubMed
Summary

Genetic variants in long QT syndrome (LQTS) can cause varied ECG findings. This study highlights that even within families, LQTS2 pathogenic variants may present differently on surface ECGs.

Keywords:
electrocardiographylong QT syndromemutation

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Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Long QT syndromes (LQTS) are a group of disorders characterized by delayed ventricular repolarization.
  • Different LQTS types (LQT1, LQT2, LQT3) exhibit distinct electrocardiogram (ECG) patterns related to specific ion channel dysfunction.
  • LQT2 is typically associated with low-amplitude T waves and T wave notches.

Purpose of the Study:

  • To investigate the phenotypic variability of LQTS within a family.
  • To analyze surface ECG findings in relation to a specific LQTS2 pathogenic variant.

Main Methods:

  • Case study of three family members sharing an LQTS2 pathogenic variant.
  • Analysis of surface electrocardiogram (ECG) recordings.

Main Results:

  • Despite sharing the same LQTS2 pathogenic variant, the three family members displayed different surface ECG findings.
  • The observed ECG variations suggest a spectrum of presentation for this specific genetic defect.

Conclusions:

  • Pathogenic variants associated with long QT syndrome can manifest with differing ECG characteristics among family members.
  • This variability underscores the complexity of genotype-phenotype correlations in LQTS.