Related Experiment Video
Updated: Oct 16, 2025
09:36
Dual-Dye Optical Mapping of Hearts from RyR2R2474S Knock-In Mice of Catecholaminergic Polymorphic Ventricular Tachycardia
Published on: December 22, 2023
1.4K
[17-year-old patient with polymorphic premature ventricular contractions]
Christian Wolpert1, Norman Rüb
1Klinik für Innere Medizin, Kardiologie, Nephrologie und internistische Intensivmedizin, Klinikum Ludwigsburg, Posilipostraße 4, 71640, Ludwigsburg, Deutschland. christian.wolpert@rkh-kliniken.de.
Herzschrittmachertherapie & Elektrophysiologie
|October 19, 2021
Summary
A teenager with frequent premature ventricular contractions and unusual facial features was diagnosed with a rare genetic condition. This diagnosis altered the treatment plan, moving away from standard ablation procedures.
Area of Science:
- Cardiology
- Clinical Genetics
Background:
- A 17-year-old patient presented with a high burden of premature ventricular contractions (PVCs) and a history of unsuccessful catheter ablation.
- The patient exhibited normal left ventricular function despite the significant arrhythmia burden.
Observation:
- The patient reported occasional paralytic attacks.
- Distinct facial dysmorphic features were noted, including hypertelorism, low-set ears with caudal rotation, and a high forehead.
Findings:
- Clinical suspicion led to molecular biology confirmation of a specific genetic diagnosis.
- The confirmed diagnosis significantly altered the therapeutic strategy for the patient's cardiac condition.
Implications:
- Highlights the importance of recognizing syndromic features in patients with cardiac arrhythmias.
- Suggests a genetic etiology for certain cases of refractory premature ventricular contractions.
- Emphasizes the need for integrated diagnostic approaches combining cardiology and clinical genetics.
Related Concept Videos
01:29Dysrhythmias III: Characteristics of Dysrhythmias
164
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...
164
01:25ECG Interpretation of Arrhythmias II: Atrial, Junctional and Ventricular Arrhythmias
199
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...
199
01:29Disturbances in Heart Rhythm
1.5K
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...
Arrhythmias are categorized by their speed, rhythm, and origin. A slow heart...
1.5K
01:18Dysrhythmias IV: Characteristics of Bradyarrhythmias
175
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...
175
01:28Dysrhythmias II: Classification of Tachyarrhythmias
194
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...
194
01:15Dysrhythmias I: Introduction
231
Dysrhythmias refers to abnormalities in the heart's rhythm. They result from disruptions in the heart's electrical conduction system, which includes the sinoatrial(SA)node, atrioventricular(AV) node, the bundle of His, bundle branches, and Purkinje fibers.Definition and PathophysiologyDysrhythmias result from disorders of impulse formation, impulse conduction, or both. The heart contains specialized cells in the sinoatrial node, atrioventricular node, and the bundle of His and Purkinje fibers...
231