Familial atrial myxoma

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ORPHA:615OMIM:255960D15.1
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Overview

Familial atrial myxoma is a rare inherited condition where benign (non-cancerous) tumors called myxomas grow inside the heart, most often in the upper chambers (the atria). These tumors are made of a jelly-like tissue and can grow large enough to block blood flow through the heart or cause pieces to break off and travel to other parts of the body. This condition is also sometimes called Carney complex when it appears alongside other features like skin pigmentation changes and tumors in other organs, though familial atrial myxoma can also refer more narrowly to families where heart myxomas run without those extra features. The tumors can cause a wide range of symptoms depending on their size and location. Some people feel short of breath, have heart palpitations, or feel faint. Others may have a stroke or mini-stroke if a piece of the tumor breaks off and blocks a blood vessel in the brain. Fever and fatigue are also common, sometimes making the condition look like an infection at first. The main treatment is surgery to remove the tumor, which is usually very effective. However, because this is a familial (inherited) condition, tumors can come back or appear in other family members, so regular heart monitoring is essential for patients and their relatives. With careful follow-up and timely surgery, many people with this condition do well long-term.

Key symptoms:

Shortness of breath, especially during activity or when lying flatHeart palpitations or irregular heartbeatUnexplained fatigue or weaknessFainting or near-fainting spellsStroke or mini-stroke (sudden weakness, speech problems, or vision changes)Fever without a clear infectionUnintentional weight lossJoint pain or muscle achesSwelling in the legs or anklesSkin color changes or unusual freckle-like spots (especially in Carney complex)Coughing or wheezingChest pain or discomfort

Clinical phenotype terms (18)— hover any for plain English
Cardiac myxomaHP:0011672Pulmonic valve myxomaHP:0006691Easy fatigabilityHP:0003388ThromboembolismHP:0001907Bacterial endocarditisHP:0006689Vascular dilatationHP:0002617Dilatation of the cerebral arteryHP:0004944
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 ↗

Treatments

No FDA-approved treatments are currently listed for Familial atrial myxoma.

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No actively recruiting trials found for Familial atrial myxoma at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Familial atrial myxoma community →

No specialists are currently listed for Familial atrial myxoma.

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 Familial atrial myxoma.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Familial atrial myxoma

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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.Should I have genetic testing, and which gene should be tested?,Which of my family members should be screened, and how often?,How often do I need echocardiograms after my tumor is removed?,What are the signs that a new tumor may be growing, and when should I go to the emergency room?,Do I have Carney complex, and if so, what other organs need to be monitored?,Are there any activity restrictions I should follow before or after surgery?,What is the chance my tumor will come back, and what would treatment look like if it does?

Common questions about Familial atrial myxoma

What is Familial atrial myxoma?

Familial atrial myxoma is a rare inherited condition where benign (non-cancerous) tumors called myxomas grow inside the heart, most often in the upper chambers (the atria). These tumors are made of a jelly-like tissue and can grow large enough to block blood flow through the heart or cause pieces to break off and travel to other parts of the body. This condition is also sometimes called Carney complex when it appears alongside other features like skin pigmentation changes and tumors in other organs, though familial atrial myxoma can also refer more narrowly to families where heart myxomas run

How is Familial atrial myxoma inherited?

Familial atrial myxoma follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.