Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant

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ORPHA:293910OMIM:618920I42.8
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4Active trials8Treatment centers

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Overview

Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant (also commonly known as arrhythmogenic right ventricular cardiomyopathy or ARVC, and sometimes called arrhythmogenic right ventricular dysplasia or ARVD) is a genetic heart condition in which the muscle of the right side of the heart is gradually replaced by fatty and scar tissue. This weakens the heart wall and disrupts the normal electrical signals that keep the heart beating in a regular rhythm. As a result, people with this condition are prone to dangerous irregular heartbeats (arrhythmias), especially during exercise or physical exertion. Symptoms often begin in adolescence or early adulthood and can include palpitations (a feeling that the heart is racing or skipping beats), fainting spells, dizziness, and shortness of breath. In some cases, the first sign of the disease can be a sudden cardiac arrest, which is why early diagnosis is so important. Over time, the right ventricle may become enlarged and weakened, and in some patients the left ventricle can also be affected, leading to heart failure. Treatment focuses on managing symptoms and preventing life-threatening arrhythmias. This may include medications such as beta-blockers or antiarrhythmic drugs, lifestyle modifications including exercise restriction, and in many cases the implantation of an implantable cardioverter-defibrillator (ICD) to detect and correct dangerous heart rhythms. Catheter ablation may be used to treat recurrent arrhythmias. In advanced cases with severe heart failure, heart transplantation may be considered. There is currently no cure, but with proper management many patients can live fulfilling lives.

Also known as:

Key symptoms:

Heart palpitations or feeling like the heart is racingFainting or near-fainting episodesDizziness or lightheadednessShortness of breath, especially during exerciseChest pain or discomfortUnusual fatigue or tirednessSwelling in the legs or anklesIrregular heartbeat (arrhythmia)Exercise intolerance or reduced ability to exerciseSudden cardiac arrestHeart failure symptoms in advanced stagesFluttering sensation in the chest

Inheritance

Autosomal dominant

Passed on from just one parent; each child has about a 50% chance of inheriting it

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗OMIM ↗NORD ↗

FDA & Trial Timeline

4 events
Dec 2024Blockade of the Renin-angiotensin-aldosterone System in Patients With ARVD

Hospices Civils de Lyon — PHASE2

TrialRECRUITING
Mar 2024Open-label, Dose Escalation Study of Safety and Preliminary Efficacy of TN-401 in Adults With PKP2 Mutation-associated ARVC

Tenaya Therapeutics — PHASE1

TrialRECRUITING
Feb 2022Local Inflammation in Arrhythmogenic Right Ventricular Cardiomyopathy

University Hospital, Toulouse — NA

TrialRECRUITING
Feb 2018Mayo AVC Registry and Biobank

Mayo Clinic

TrialRECRUITING

Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.

Treatments

No FDA-approved treatments are currently listed for Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant.

4 clinical trialsare actively recruiting — trials can provide access to cutting-edge therapies.

View clinical trials →

Clinical Trials

4 recruitingView all trials with filters →
Phase 21 trial
Blockade of the Renin-angiotensin-aldosterone System in Patients With ARVD
Phase 2
Actively Recruiting
PI: Philippe Chevalier, MD, PhD (Hospices Civils de Lyon) · Sites: Amiens; Bron +11 more · Age: 1899 yrs
Phase 11 trial
Open-label, Dose Escalation Study of Safety and Preliminary Efficacy of TN-401 in Adults With PKP2 Mutation-associated ARVC
Phase 1
Actively Recruiting
· Sites: San Francisco, California; Aurora, Colorado +5 more · Age: 1865 yrs
N/A1 trial
Local Inflammation in Arrhythmogenic Right Ventricular Cardiomyopathy
N/A
Actively Recruiting
PI: Philippe MAURY, MD (University Hospital, Toulouse) · Sites: Toulouse · Age: 1899 yrs
Other1 trial
Mayo AVC Registry and Biobank
Actively Recruiting
PI: Virend Somers, PhD, MD (Mayo Clinic) · Sites: Rochester, Minnesota; Papworth Everard, Cambridge

No specialists are currently listed for Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant

1 articles
ResearchBIORXIVApr 25, 2026
Preprint: Fasting reverses PLN R14del-mediated cardiomyopathy through lysosomal reactivation
Scientists discovered that fasting may help reverse heart damage caused by a specific genetic mutation in the PLN gene called R14del. This mutation causes a com
See all news about Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant

Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.What specific genetic mutation do I have, and how does it affect my prognosis?,Do I need an implantable cardioverter-defibrillator (ICD), and what are the benefits and risks?,What types and levels of physical activity are safe for me?,Should my family members be tested for this condition, and at what age should screening begin?,What medications are best for my situation, and what side effects should I watch for?,How often do I need follow-up appointments and imaging tests?,Are there any clinical trials or new treatments I should know about?

Common questions about Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant

What is Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant?

Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant (also commonly known as arrhythmogenic right ventricular cardiomyopathy or ARVC, and sometimes called arrhythmogenic right ventricular dysplasia or ARVD) is a genetic heart condition in which the muscle of the right side of the heart is gradually replaced by fatty and scar tissue. This weakens the heart wall and disrupts the normal electrical signals that keep the heart beating in a regular rhythm. As a result, people with this condition are prone to dangerous irregular heartbeats (arrhythmias), especially during exercise

How is Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant inherited?

Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.

Are there clinical trials for Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant?

Yes — 4 recruiting clinical trials are currently listed for Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.