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Related Concept Videos

Mechanism of Cardiac Arrhythmias01:28

Mechanism of Cardiac Arrhythmias

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Arrhythmias are irregular heart rhythms occurring when the heart's electrical impulses become abnormal. These disturbances can lead to various symptoms, depending on their severity and the underlying cause. Some common factors contributing to arrhythmias include hypoxia, ischemia, electrolyte imbalances, excessive catecholamine exposure, drug toxicity, and muscle overstretching. Arrhythmias can be classified into two main types based on the rate and site of origin of abnormal heart rhythms.
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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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Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Dysrhythmias II: Classification of Tachyarrhythmias01:28

Dysrhythmias II: Classification of Tachyarrhythmias

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Tachyarrhythmias are a type of dysrhythmia where the heart rate exceeds 100 beats per minute. Here are some common types of tachyarrhythmias:Sinus TachycardiaSinus tachycardia originates from increased impulses from the sinus node, leading to an elevated heart rate. It is often triggered by stress, fever, or exercise.Patients may experience palpitations, a sensation of a racing heart, dizziness, and chest discomfort.Causes and Risk Factors: Common causes include physical exertion, emotional...
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Electrophysiology of Normal Cardiac Rhythm01:19

Electrophysiology of Normal Cardiac Rhythm

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The normal cardiac rhythm is a synchronized electrical activity that facilitates the regular and coordinated contraction of the heart muscle. This process is essential for efficient blood circulation throughout the body. The fundamental elements involved in establishing and maintaining this rhythm include the unique electrical properties of cardiac muscle cells, the sinoatrial (SA) node's pacemaker function, the specialized conducting system, and the ionic mechanisms underlying each phase...
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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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Related Experiment Video

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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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Rare Coding Variants Associated With Electrocardiographic Intervals Identify Monogenic Arrhythmia Susceptibility

Seung Hoan Choi1, Sean J Jurgens1, Christopher M Haggerty2,3

  • 1Program in Medical and Population Genetics and Cardiovascular Disease Initiative, Broad Institute of MIT and Harvard, Cambridge, MA (S.H.C., S.J.J., A.W.H., J.L.H., V.N.M., L.-C.W., M.D.C., C.J.-Y.L., H.L.R., C.R., P.T.E., S.A.L.).

Circulation. Genomic and Precision Medicine
|July 28, 2021
PubMed
Summary

Rare genetic variants significantly impact electrocardiographic (ECG) intervals, revealing new genes linked to cardiac conditions and sudden cardiac death (SCD) risk. Many carriers of these variants show incomplete penetrance, meaning they have normal ECGs despite carrying disease-associated genes.

Keywords:
death, sudden, cardiacepidemiologygeneticsgenomepopulation

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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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Area of Science:

  • Genetics
  • Cardiology
  • Genomics

Background:

  • Electrocardiographic (ECG) intervals are key indicators of arrhythmia and sudden cardiac death (SCD) risk.
  • Understanding the link between rare genetic variations and ECG traits at a population level is limited.

Purpose of the Study:

  • To investigate associations between low-frequency and rare coding genetic variants and common electrocardiographic traits.
  • To identify novel genes associated with cardiac conduction and arrhythmia susceptibility.

Main Methods:

  • Utilized whole-genome sequencing data from 29,000 individuals (Trans-Omics in Precision Medicine).
  • Replicated findings in nearly 100,000 individuals using whole-exome sequencing data (UK Biobank and MyCode).
  • Analyzed associations with five standard ECG traits: RR, P-wave, PR, QRS intervals, and corrected QT interval.

Main Results:

  • Identified rare variants linked to known SCD genes (KCNQ1, KCNH2, SCN5A) and novel genes (PAM, MFGE8).
  • Loss-of-function variants in SCN5A were associated with increased odds of atrioventricular block.
  • Variants in KCNQ1 and KCNH2 were linked to a significantly higher risk of corrected QT interval prolongation, a marker for SCD.
  • Observed incomplete penetrance, with over 70% of variant carriers exhibiting normal ECG intervals.

Conclusions:

  • Large-scale sequencing and ECG analysis effectively identify monogenic arrhythmia susceptibility genes and impactful rare variants.
  • Established arrhythmia and SCD genes show incomplete penetrance and explain only a portion of significant ECG interval changes.