Overview
Familial isolated restrictive cardiomyopathy (also called FIRCM or hereditary restrictive cardiomyopathy) is a rare inherited heart muscle disease. In this condition, the walls of the heart's lower chambers (ventricles) become stiff and rigid, even though the heart muscle itself is not thickened or enlarged. Because the heart walls cannot relax properly, the heart has trouble filling with blood between beats. This leads to a buildup of pressure in the heart and lungs, causing symptoms like shortness of breath, fatigue, and swelling. The disease is caused by changes (mutations) in genes that control how heart muscle proteins are made. It tends to run in families, meaning a parent can pass it to their children. Symptoms can appear at any age, including in childhood, and the disease can progress over time. Treatment focuses on managing symptoms and preventing complications like heart failure, abnormal heart rhythms, and blood clots. There is currently no cure. Some patients eventually need a heart transplant. Regular monitoring by a heart specialist (cardiologist) is essential to manage this condition and improve quality of life.
Also known as:
Key symptoms:
Shortness of breath, especially during activityExtreme tiredness or fatigueSwelling in the legs, ankles, or feetSwelling in the abdomenDifficulty exercising or reduced ability to be activeRapid or irregular heartbeat (palpitations)Dizziness or lightheadednessFainting or near-fainting spellsChest discomfort or pressurePoor growth or failure to thrive in childrenFluid buildup in the lungs causing cough or wheezing
Clinical phenotype terms (20)— hover any for plain English
Autosomal dominant
Passed on from just one parent; each child has about a 50% chance of inheriting it
Variable
Can begin at different ages, from infancy through adulthood
Treatments
No FDA-approved treatments are currently listed for Familial isolated restrictive cardiomyopathy.
View clinical trials →Clinical Trials
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Specialists
View all specialists →No specialists are currently listed for Familial isolated restrictive cardiomyopathy.
Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
Travel Grants
No travel grants are currently matched to Familial isolated restrictive cardiomyopathy.
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Caregiver Resources
NORD Caregiver Resources
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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.Which gene mutation is causing this condition in our family, and what does that mean for my relatives?,How often do I need echocardiograms and other heart tests to monitor my condition?,What symptoms should prompt me to go to the emergency room immediately?,Should I restrict physical activity, and if so, what level of exercise is safe?,What medications are recommended for me, and what are the risks and benefits?,At what point would a heart transplant be considered, and how do I get on a transplant list?,Are there any clinical trials or new treatments I should know about?
Common questions about Familial isolated restrictive cardiomyopathy
What is Familial isolated restrictive cardiomyopathy?
Familial isolated restrictive cardiomyopathy (also called FIRCM or hereditary restrictive cardiomyopathy) is a rare inherited heart muscle disease. In this condition, the walls of the heart's lower chambers (ventricles) become stiff and rigid, even though the heart muscle itself is not thickened or enlarged. Because the heart walls cannot relax properly, the heart has trouble filling with blood between beats. This leads to a buildup of pressure in the heart and lungs, causing symptoms like shortness of breath, fatigue, and swelling. The disease is caused by changes (mutations) in genes that c
How is Familial isolated restrictive cardiomyopathy inherited?
Familial isolated restrictive cardiomyopathy follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.