Inherited arrhythmogenic cardiomyopathy

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9Active trials28Specialists8Treatment centers

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Overview

Inherited arrhythmogenic cardiomyopathy (also called arrhythmogenic right ventricular cardiomyopathy or ARVC, and sometimes arrhythmogenic right ventricular dysplasia or ARVD) is a rare heart muscle disease passed down through families. In this condition, the normal heart muscle cells are gradually replaced by fatty or fibrous (scar-like) tissue. This mainly affects the right side of the heart, though both sides can be involved. Over time, this change in the heart muscle makes it harder for the heart to beat in a normal, steady rhythm. The most common problems caused by this disease are irregular heartbeats (arrhythmias), which can range from mild palpitations to life-threatening rhythms. Some people feel their heart racing or fluttering, especially during exercise. Others may faint suddenly or feel very short of breath. In serious cases, the heart can go into a dangerous rhythm called ventricular fibrillation, which can cause sudden cardiac arrest. This is one of the leading causes of sudden death in young athletes. Treatment focuses on reducing the risk of dangerous heart rhythms and protecting heart function. Options include medications to control heart rhythm, lifestyle changes such as avoiding intense exercise, and devices like an implantable cardioverter-defibrillator (ICD) that can shock the heart back into a normal rhythm if needed. There is currently no cure, but with proper management many people live full lives. Regular monitoring by a heart specialist is essential.

Also known as:

Key symptoms:

Heart palpitations (feeling the heart racing, fluttering, or pounding)Fainting or near-fainting, especially during or after exerciseShortness of breath during physical activityDizziness or lightheadednessChest pain or discomfortFatigue that is out of proportion to activity levelSwelling in the legs or ankles (in advanced disease)Sudden cardiac arrest (in severe cases)Irregular heartbeat detected on a heart monitorReduced ability to exercise without symptoms

Inheritance

Autosomal dominant

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

Age of Onset

Adult

Begins in adulthood (age 18 or older)

Orphanet ↗NORD ↗

FDA & Trial Timeline

10 events
Mar 2026Aclarubicin Plus With Azacitidine and Venetoclax in the Treatment of Acute Myeloid Leukemia

Shanghai Jiao Tong University School of Medicine — PHASE1, PHASE2

TrialNOT YET RECRUITING
Mar 2026PKP2-ACM Natural History Study

Rocket Pharmaceuticals Inc.

TrialRECRUITING
Mar 2025Statin Effect on Arrhythmogenic Cardiomyopathy Disease Progression (SEARCH)

Centro Cardiologico Monzino — PHASE2

TrialRECRUITING
Feb 2025GEAM Study Aims At Assessing the Role of Genetic Testing in Patients with Arrhythmic Myocarditis.

Scientific Institute San Raffaele

TrialRECRUITING
Jan 2025Intramuscular ACM-CpG Monotherapy in Patients With Advanced/Metastatic Solid Tumors With Prior Response to Immunotherapy Alone or in Combination With Chemotherapy

National Cancer Centre, Singapore — PHASE1

TrialRECRUITING
Nov 2024Comparing Immune System Suppression to Medication for Unexplained Heart Function and Irregular Heartbeat

Roderick Tung — PHASE4

TrialENROLLING BY INVITATION
Aug 2024Left Atrial Appendage Arrhythmogenic and Thrombogenic Substrate

University Hospital Bispebjerg and Frederiksberg — NA

TrialRECRUITING
Apr 2024Risk Stratification, Early Prevention and Treatment Strategies for Arrhythmogenic Cardiomyopathy

First Affiliated Hospital Xi'an Jiaotong University

TrialRECRUITING
Jan 2024A Study to Assess Real-world Patient Characteristics and Clinical Course for Symptomatic Patients With PKP2-ACM

Lexeo Therapeutics

TrialRECRUITING
Aug 2023A Phase 1, Dose Escalation Trial of RP-A601 in Subjects With PKP2 Variant-Mediated Arrhythmogenic Cardiomyopathy (PKP2-ACM)

Rocket Pharmaceuticals Inc. — PHASE1

TrialRECRUITING

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

Treatments

No FDA-approved treatments are currently listed for Inherited arrhythmogenic cardiomyopathy.

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

View clinical trials →

Clinical Trials

9 recruitingView all trials with filters →
Phase 21 trial
Statin Effect on Arrhythmogenic Cardiomyopathy Disease Progression (SEARCH)
Phase 2
Actively Recruiting
PI: Claudio Tondo (Centro Cardiologico Monzino IRCCS) · Sites: Pavia, PV; Ancona +3 more · Age: 1899 yrs
Phase 11 trial
A Phase 1, Dose Escalation Trial of RP-A601 in Subjects With PKP2 Variant-Mediated Arrhythmogenic Cardiomyopathy (PKP2-ACM)
Phase 1
Actively Recruiting
PI: Barry Greenberg, MD (University of California, San Diego) · Sites: La Jolla, California; Durham, North Carolina +1 more · Age: 1899 yrs
N/A2 trials
Arrhythmogenic Activity During Exercise in ARVC Patients
N/A
Actively Recruiting
PI: Christina M Spengler, PhD, MD (ETH Zurich, Exercise Physiology Lab, Institute of ) · Sites: Zurich, Canton of Zurich · Age: 1499 yrs
Non-interventional Study of Seroprevalence of Pre-existing Antibodies Against Adenovirus-associated Virus Vector (AAV9) and the Progression of Disease in Patients With Plakophilin 2 (PKP2)-Associated Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
N/A
Actively Recruiting
PI: Matthew Pollman, MD · Sites: San Francisco, California; Aurora, Colorado +18 more · Age: 1465 yrs
Other5 trials
Role of Endomyocardial Biopsy and Aetiology-based Treatment in Pediatric Patients with Inflammatory Heart Disease in Arrhythmic and Non-arrhythmic Clinical Presentations: an Integrated Approach for the Optimal Diagnostic and Therapeutic Management (MYOPED)
Actively Recruiting
PI: Paolo Della Bella, MD (San Raffaele Scientific Institute, Milan, Italy) · Sites: Milan, Milano · Age: 017 yrs
A Study to Assess Real-world Patient Characteristics and Clinical Course for Symptomatic Patients With PKP2-ACM
Actively Recruiting
PI: Lexeo Clinical Trials (Lexeo Therapeutics) · Sites: Redwood City, California; Baltimore, Maryland +4 more · Age: 1865 yrs
Role of Endomyocardial Biopsy and Aetiology-based Treatment in Patients With Inflammatory Heart Disease in Arrhythmic and Non-arrhythmic Clinical Presentations: an Integrated Approach for the Optimal Diagnostic and Therapeutic Management
Actively Recruiting
PI: Paolo Della Bella, MD (San Raffaele Scientific Institute, Milan, Italy) · Sites: Milan, Milano · Age: 1899 yrs
Risk Stratification, Early Prevention and Treatment Strategies for Arrhythmogenic Cardiomyopathy
Actively Recruiting
PI: Yang Yan (First Affiliated Hospital Xi'an Jiaotong Universit) · Sites: Xi'an, Shaanxi · Age: 1899 yrs
Cardiomyopathies and Heart Muscle Diseases: Cardiac Imaging in the Evaluation of Myocardial Fibrosis Transition
Actively Recruiting
· Sites: Edinburgh, Scotland · Age: 3090 yrs

Specialists

Showing 25 of 28View all specialists →
WP
Wojciech Zareba, MD, PhD
Specialist
PI on 1 active trial
JT
Jeffrey Towbin
MEMPHIS, TN
Specialist
PI on 1 active trial82 Inherited arrhythmogenic cardiomyopathy publications
FM
Frank I. Marcus, MD
CHICO, CA
Specialist
PI on 1 active trial
PP
Philippe Charron, MD, PhD
Specialist
PI on 1 active trial
WZ
Wojciech Zareba
Specialist
PI on 1 active trial46 Inherited arrhythmogenic cardiomyopathy publications
MM
Matthew Pollman, MD
San Francisco, California
Specialist

Rare Disease Specialist

AM
Andrew D Krahn, MD
ROXBURY CROSSING, MA
Specialist
PI on 3 active trials1 Inherited arrhythmogenic cardiomyopathy publication
AA
Angeliki Asimaki
Specialist
PI on 1 active trial2 Inherited arrhythmogenic cardiomyopathy publications
JM
Jason D Roberts, MD MAS
Specialist
PI on 2 active trials7 Inherited arrhythmogenic cardiomyopathy publications
PM
Paulus Kirchhof, MD
Specialist
PI on 1 active trial
AM
Andreas Metzner, MD
Specialist
PI on 1 active trial1 Inherited arrhythmogenic cardiomyopathy publication
AM
Andreas Rillig, MD
Specialist
PI on 1 active trial1 Inherited arrhythmogenic cardiomyopathy publication
EP
Elena Biagini, MD, PhD
Chieti, Abruzzo/Chieti
Specialist

Rare Disease Specialist

PI on 2 active trials
VM
Virend Somers, PhD, MD
ROCHESTER, MN
Specialist
PI on 1 active trial
LP
Leandro Slipczuk, MD, PhD
Specialist
PI on 1 active trial
SM
Steven Fowler, MD
Specialist
PI on 1 active trial
AD
Andrew D Krahn, Dr.
Specialist
PI on 1 active trial
PM
Paolo Della Bella, MD
Milan, Milano
Specialist

Rare Disease Specialist

PI on 4 active trials
PP
Philippe Chevalier, MD, PhD
Specialist
PI on 1 active trial
SP
Saurabh Kumar, MBBS, PhD
RIVERSIDE, CA
Specialist
PI on 1 active trial
AK
Andrew Krahn
ROXBURY CROSSING, MA
Specialist
PI on 1 active trial
PC
Paul Broadhurst, Consultant
Specialist
PI on 1 active trial
CS
Christina M Spengler
Specialist
PI on 1 active trial

Treatment Centers

8 centers
⚗️ Trial Site

Mayo Clinic

📍 Jacksonville, Florida

⚗️ Trial Site

University of California San Francisco

📍 San Francisco, California

⚗️ Trial Site

Medical University of South Carolina

📍 Charleston, South Carolina

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, 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

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

Travel Grants

No travel grants are currently matched to Inherited arrhythmogenic cardiomyopathy.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Inherited arrhythmogenic cardiomyopathy

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 arrhythmogenic cardiomyopathy

Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.Do I need an ICD, and what are the risks and benefits for my specific situation?,Which types of exercise or sports are safe for me, and which should I completely avoid?,Should my family members be tested, and how do we arrange that?,What warning signs should prompt me to go to the emergency room immediately?,Are there any clinical trials or new treatments I should know about?,How often do I need follow-up appointments and what tests will be repeated over time?,What does my genetic test result mean for my children or siblings?

Common questions about Inherited arrhythmogenic cardiomyopathy

What is Inherited arrhythmogenic cardiomyopathy?

Inherited arrhythmogenic cardiomyopathy (also called arrhythmogenic right ventricular cardiomyopathy or ARVC, and sometimes arrhythmogenic right ventricular dysplasia or ARVD) is a rare heart muscle disease passed down through families. In this condition, the normal heart muscle cells are gradually replaced by fatty or fibrous (scar-like) tissue. This mainly affects the right side of the heart, though both sides can be involved. Over time, this change in the heart muscle makes it harder for the heart to beat in a normal, steady rhythm. The most common problems caused by this disease are irreg

How is Inherited arrhythmogenic cardiomyopathy inherited?

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

At what age does Inherited arrhythmogenic cardiomyopathy typically begin?

Typical onset of Inherited arrhythmogenic cardiomyopathy is adult. Age of onset can vary across affected individuals.

Are there clinical trials for Inherited arrhythmogenic cardiomyopathy?

Yes — 9 recruiting clinical trials are currently listed for Inherited arrhythmogenic cardiomyopathy on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.

Which specialists treat Inherited arrhythmogenic cardiomyopathy?

25 specialists and care centers treating Inherited arrhythmogenic cardiomyopathy are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.