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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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Disturbances in Heart Rhythm01:28

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...
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Myocarditis III: Medical Management01:14

Myocarditis III: Medical Management

1
Myocarditis: Comprehensive Medical ManagementMyocarditis, the heart muscle inflammation, requires a comprehensive medical management strategy that addresses the underlying cause, provides supportive care, manages symptoms, and reduces cardiac workload.Infections and Autoimmune CausesAdminister appropriate antimicrobial therapy when an infectious agent causes myocarditis. For instance, penicillin treats infections caused by Group A Streptococcus. In cases where autoimmune processes are...
1
ECG Interpretation of Arrhythmias I: Sinus Arrhythmias01:16

ECG Interpretation of Arrhythmias I: Sinus Arrhythmias

191
Arrhythmias are disturbances in the heart's rhythm that lead to abnormal heartbeats. These irregularities can originate from different parts of the heart and are classified based on their origin and nature.
Types of Arrhythmias
Sinus Node Arrhythmias
Sinus Bradycardia: Originating from the sinoatrial (SA) node, sinus bradycardia involves slower impulses, resulting in a heart rate of less than 60 beats per minute (bpm). Causes include sleep, vagal stimulation, beta-blockers, hypothyroidism,...
191
Myocarditis II: Clinical features and Diagnostic Tests01:27

Myocarditis II: Clinical features and Diagnostic Tests

1
Myocarditis is an inflammation of the heart muscle. The symptoms vary widely, encompassing asymptomatic presentations to severe, acute manifestations.Clinical PresentationAsymptomatic cases: In some instances, myocarditis may be asymptomatic, with the infection resolving without intervention. These cases often go undetected unless discovered incidentally through diagnostic imaging or tests conducted for other reasons.General Early Symptoms: Early symptoms of myocarditis are non-specific and can...
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Rheumatic Heart Disease III: Medical Management01:21

Rheumatic Heart Disease III: Medical Management

2
Rheumatic heart disease (RHD) management can be divided into two main strategies: prevention and long-term management.Primary PreventionPrimary prevention focuses on timely diagnosis and management of group A streptococcal pharyngitis to prevent acute rheumatic fever. The most widely used antibiotic for treating this condition is intramuscular benzathine penicillin G.Acute Rheumatic Fever TreatmentThe primary treatment goal for a patient diagnosed with acute rheumatic fever is to suppress the...
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Removal of tine-based leadless pacemakers - Insights from a large multicenter experience.

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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Arrhythmogenic Cardiomyopathy: Towards Genotype Based Diagnoses and Management.

Steven A Muller1,2,3, Giorgia Bertoli4, Jianan Wang5

  • 1Division of Cardiology, Department of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.

Journal of Cardiovascular Electrophysiology
|December 3, 2024
PubMed
Summary

Arrhythmogenic cardiomyopathy (ACM) is a genetic heart condition. Understanding specific genetic causes (genotypes) improves diagnosis, risk prediction, and personalized treatments for ventricular arrhythmias and sudden cardiac death.

Keywords:
ACMARVCcardiac arrest/sudden deathclinical:electrophysiologygene‐specificgenotype‐specific

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Area of Science:

  • Cardiology
  • Genetics
  • Inherited heart diseases

Background:

  • Arrhythmogenic cardiomyopathy (ACM) is a genetic disorder affecting 1:5000-10,000 individuals.
  • It predisposes patients to life-threatening ventricular arrhythmias (VA) and sudden cardiac death (SCD).
  • Current diagnostic and risk prediction models are largely genotype-agnostic, despite known genotype-phenotype associations.

Purpose of the Study:

  • To review the current literature on genotype-specific natural history and management of ACM.
  • To highlight scientific advances driving upcoming clinical trials for ACM.
  • To inform clinicians on genotype-specific approaches for ACM patient care.

Main Methods:

  • Literature review of genotype-phenotype associations in ACM.
  • Analysis of genotype-specific risk factors for VA and SCD.
  • Overview of emerging genotype-specific therapeutic strategies and clinical trials.

Main Results:

  • Genotype influences early ACM onset, necessitating genotype-specific diagnostic criteria and family screening.
  • Risk factors for SCD differ among genetic subtypes, supporting genotype-specific management guidelines.
  • Emerging genotype-specific therapies, including flecainide and gene therapy for PKP2 variants, show promise.

Conclusions:

  • Genotype-specific approaches are crucial for accurate ACM diagnosis, risk stratification, and effective management.
  • Personalized therapeutic strategies based on genetic subtypes are advancing ACM patient care.
  • Upcoming clinical trials will further refine genotype-specific treatment paradigms for ACM.