Related Experiment Video
Updated: Jul 29, 2025
11:33
Isolation and Kv Channel Recordings in Murine Atrial and Ventricular Cardiomyocytes
Published on: March 12, 2013
13.5K
Genetics in Probands With Idiopathic Ventricular Fibrillation: A Multicenter Study
Luigi Pannone1, Anaïs Gauthey1, Giulio Conte2
1Heart Rhythm Management Centre, Postgraduate Program in Cardiac Electrophysiology and Pacing, Universitair Ziekenhuis Brussel-Vrije Universiteit Brussel, European Reference Networks Guard-Heart, Brussels, Belgium.
JACC. Clinical Electrophysiology
|May 25, 2023
Summary
Genetic analysis in idiopathic ventricular fibrillation (IVF) reveals that carrying pathogenic or uncertain variants predicts ventricular arrhythmias (VA). Patients without variants showed better outcomes, highlighting the importance of genotype-phenotype correlation in IVF.
Area of Science:
- Cardiology
- Genetics
- Molecular Biology
Background:
- Idiopathic ventricular fibrillation (IVF) has associated genes, but genotype-phenotype correlations are lacking.
- Understanding the genetic basis of IVF is crucial for predicting clinical outcomes.
Purpose of the Study:
- To determine the genetic profile of idiopathic ventricular fibrillation (IVF) patients using comprehensive gene panel analysis.
- To correlate genetic findings with long-term clinical outcomes, specifically ventricular arrhythmias (VA).
Main Methods:
- A multicenter retrospective study included 45 consecutive IVF probands.
- Broad gene panel analysis was performed, classifying variants as pathogenic/likely pathogenic (P+), variants of unknown significance (VUS), or no variants (NO-V).
- The primary endpoint was the occurrence of ventricular arrhythmias (VA) over a mean follow-up of 105 months.
Main Results:
- A genetic variant was identified in 12 patients (3 P+, 9 VUS).
- No deaths occurred, but 35.6% of patients experienced VA.
- Patients with no variants (NO-V) had significantly higher VA-free survival compared to VUS and P+ carriers (P < 0.001 and P = 0.013, respectively).
Conclusions:
- The diagnostic yield for pathogenic/likely pathogenic (P+) variants in IVF is 6.7% using broad gene panels.
- Carrier status for P+ or VUS variants is a significant predictor of future ventricular arrhythmias (VA) in IVF patients.
More Related Videos
Related Concept Videos
01:30Acute Coronary Syndrome III: Diagnostic Studies
12
Diagnosing acute coronary syndrome or ACS begins with a thorough patient history. Notable symptoms include central, crushing chest pain radiating to the left arm, neck, jaw, or back, along with shortness of breath, sweating (diaphoresis), nausea, vomiting, dizziness, and palpitations.It is crucial to note any history of cardiac illnesses and assess risk factors, including age, gender, smoking, hypertension, diabetes, hyperlipidemia, and a sedentary lifestyle.During physical examination, vital...
12
01:28Mechanism of Cardiac Arrhythmias
972
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.
972
01:25Cardiomyopathy I: Introduction and Classification
25
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...
25
01:19Electrophysiology of Normal Cardiac Rhythm
6.6K
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...
6.6K
01:29Cardiomyopathy III: Hypertrophic Cardiomyopathy
17
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...
17
01:25ECG Interpretation of Arrhythmias II: Atrial, Junctional and Ventricular Arrhythmias
55
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...
55