OBSOLETE: Familial restrictive cardiomyopathy type 3

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Overview

Familial restrictive cardiomyopathy type 3 is a rare inherited heart condition that has been reclassified (marked as 'obsolete') in medical databases, meaning it may now be categorized under a broader or updated disease classification. Restrictive cardiomyopathy (RCM) in general is a condition where the walls of the heart's lower chambers (ventricles) become stiff and rigid, preventing them from filling properly with blood between heartbeats. Although the heart may pump normally at first, the stiffness makes it harder for the heart to relax and fill, which leads to a backup of blood and fluid in the body. Symptoms typically include shortness of breath, fatigue, swelling in the legs and abdomen, difficulty exercising, and irregular heartbeats. Over time, this can lead to heart failure. Familial forms of restrictive cardiomyopathy are caused by inherited gene mutations and tend to run in families. Treatment is mainly supportive and focuses on managing symptoms of heart failure, controlling heart rhythm problems, and in severe cases, considering heart transplantation. Because this specific subtype has been reclassified, patients previously diagnosed with this condition should work with their cardiologist and geneticist to understand how their diagnosis fits into current medical classifications.

Also known as:

Key symptoms:

Shortness of breath, especially during activity or when lying downFatigue and low energySwelling in the legs, ankles, or feetSwelling or fluid buildup in the abdomenDifficulty exercising or reduced ability to be activeIrregular or fast heartbeat (palpitations)Fainting or feeling lightheadedChest discomfortCoughing, especially at nightPoor appetite or feeling full quicklyWeight gain from fluid retention

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 ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for OBSOLETE: Familial restrictive cardiomyopathy type 3.

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No actively recruiting trials found for OBSOLETE: Familial restrictive cardiomyopathy type 3 at this time.

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No specialists are currently listed for OBSOLETE: Familial restrictive cardiomyopathy type 3.

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 OBSOLETE: Familial restrictive cardiomyopathy type 3.

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Community

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Caregiver Resources

NORD Caregiver Resources

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

Mental Health Support

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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.Has my diagnosis been updated to reflect current disease classifications, and what is the most accurate name for my condition now?,What specific gene mutation was found, and what does it mean for my family members?,How often should I have echocardiograms and other heart monitoring tests?,Are there any activity restrictions I should follow, and is exercise safe for me?,At what point would heart transplantation be considered, and should I be evaluated for transplant listing?,What symptoms should prompt me to seek emergency care immediately?,Are there any clinical trials or new treatments being studied for restrictive cardiomyopathy that I might be eligible for?

Common questions about OBSOLETE: Familial restrictive cardiomyopathy type 3

What is OBSOLETE: Familial restrictive cardiomyopathy type 3?

Familial restrictive cardiomyopathy type 3 is a rare inherited heart condition that has been reclassified (marked as 'obsolete') in medical databases, meaning it may now be categorized under a broader or updated disease classification. Restrictive cardiomyopathy (RCM) in general is a condition where the walls of the heart's lower chambers (ventricles) become stiff and rigid, preventing them from filling properly with blood between heartbeats. Although the heart may pump normally at first, the stiffness makes it harder for the heart to relax and fill, which leads to a backup of blood and fluid

How is OBSOLETE: Familial restrictive cardiomyopathy type 3 inherited?

OBSOLETE: Familial restrictive cardiomyopathy type 3 follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.