OBSOLETE: Familial restrictive cardiomyopathy type 2

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ORPHA:99986
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Overview

Familial restrictive cardiomyopathy type 2 (also known as RCM2) is a rare inherited heart condition that has been reclassified and is now considered obsolete as a separate disease entry. Restrictive cardiomyopathy 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. Even though the heart muscle may not be thickened, it cannot relax normally. This leads to a backup of blood, causing fluid to build up in the lungs, legs, and abdomen. Patients with familial restrictive cardiomyopathy typically experience shortness of breath, fatigue, swelling in the legs and ankles, and difficulty exercising. Over time, the condition can lead to heart failure, abnormal heart rhythms, and blood clots. Symptoms may appear in childhood or adulthood depending on the specific genetic cause. Because this entry is now obsolete, patients previously classified under this type may now fall under broader categories of familial restrictive cardiomyopathy or specific gene-based diagnoses. Treatment is mainly supportive and may include medications to manage heart failure symptoms, blood thinners to prevent clots, and in severe cases, heart transplantation. There is currently no cure for restrictive cardiomyopathy, and management focuses on improving quality of life and preventing complications.

Key symptoms:

Shortness of breath, especially during activityFatigue and low energySwelling in the legs, ankles, or feetSwelling of the abdomen due to fluid buildupDifficulty exercising or being physically activeIrregular or rapid heartbeatDizziness or fainting spellsChest discomfortWeight gain from fluid retentionCoughing or wheezing, especially when lying downLoss of appetiteEnlarged liver

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 2.

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No actively recruiting trials found for OBSOLETE: Familial restrictive cardiomyopathy type 2 at this time.

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No specialists are currently listed for OBSOLETE: Familial restrictive cardiomyopathy type 2.

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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 2.

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Community

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Caregiver Resources

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

Questions for your doctor

Bring these to your next appointment

  • Q1.What specific genetic mutation is causing my condition, and what does it mean for my family members?,How severe is my heart's restriction, and how often should I have follow-up testing?,What physical activities are safe for me, and what should I avoid?,Should my family members be tested for this condition?,At what point would heart transplantation be considered for me?,What warning signs should prompt me to go to the emergency room?,Are there any clinical trials or new treatments being studied for restrictive cardiomyopathy?

Common questions about OBSOLETE: Familial restrictive cardiomyopathy type 2

What is OBSOLETE: Familial restrictive cardiomyopathy type 2?

Familial restrictive cardiomyopathy type 2 (also known as RCM2) is a rare inherited heart condition that has been reclassified and is now considered obsolete as a separate disease entry. Restrictive cardiomyopathy 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. Even though the heart muscle may not be thickened, it cannot relax normally. This leads to a backup of blood, causing fluid to build up in the lungs, legs, and abdomen. Patients with familial restrictive car

How is OBSOLETE: Familial restrictive cardiomyopathy type 2 inherited?

OBSOLETE: Familial restrictive cardiomyopathy type 2 follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.