Familial idiopathic dilatation of the right atrium

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Overview

Familial idiopathic dilatation of the right atrium (also called familial right atrial enlargement or isolated right atrial dilatation) is a rare heart condition where the right upper chamber of the heart becomes abnormally enlarged without a clear underlying cause like a valve problem or lung disease. 'Familial' means it tends to run in families, suggesting a genetic cause, though the exact gene responsible has not been fully identified in all cases. 'Idiopathic' simply means the enlargement happens on its own, not as a result of another known heart or lung condition. The right atrium is the chamber that receives blood returning from the body and sends it to the right ventricle, which then pumps it to the lungs. When this chamber is stretched and enlarged, it can disrupt the heart's normal electrical system, leading to irregular heartbeats (arrhythmias). Some people have no symptoms at all and are diagnosed by chance, while others experience palpitations, shortness of breath, fatigue, or even fainting. Treatment focuses on managing symptoms, especially abnormal heart rhythms. Medications to control heart rate or rhythm, blood thinners to prevent clots, and in some cases procedures like catheter ablation may be used. In severe cases, surgery to reduce the size of the right atrium has been performed. Regular monitoring by a cardiologist is essential, as the condition can progress over time.

Key symptoms:

Heart palpitations or fluttering in the chestIrregular heartbeat (arrhythmia)Shortness of breath, especially during activityFatigue or unusual tirednessDizziness or lightheadednessFainting or near-fainting episodesSwelling in the legs or anklesChest discomfort or pressureReduced ability to exercise

Clinical phenotype terms (24)— hover any for plain English
Atrial septal dilatationHP:0011995Right atrial enlargementHP:0030718Right ventricular hypertrophyHP:0001667Atrioventricular blockHP:0001678Atrial fibrillationHP:0005110Complete heart block with narrow QRS complexesHP:0005178Abnormal vena cava morphologyHP:0005345Abnormality of the hepatic vasculatureHP:0006707Reduced left ventricular ejection fractionHP:0012664Abnormal cardiac ventricular functionHP:0030872Midsystolic murmurHP:0031665Holosystolic murmurHP:0031667
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 Familial idiopathic dilatation of the right atrium.

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No actively recruiting trials found for Familial idiopathic dilatation of the right atrium at this time.

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No specialists are currently listed for Familial idiopathic dilatation of the right atrium.

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 idiopathic dilatation of the right atrium.

Search all travel grants →NORD Financial Assistance ↗

Community

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.How enlarged is my right atrium, and how does that compare to a normal heart?,What type of heart rhythm problems am I at risk for, and how will we monitor for them?,Do I need blood thinners, and what are the risks and benefits for me specifically?,Should my close family members (parents, siblings, children) be tested or screened?,Are there any activities or sports I should avoid?,What warning signs should prompt me to go to the emergency room immediately?,Is genetic testing available for my family, and should I see a clinical geneticist?

Common questions about Familial idiopathic dilatation of the right atrium

What is Familial idiopathic dilatation of the right atrium?

Familial idiopathic dilatation of the right atrium (also called familial right atrial enlargement or isolated right atrial dilatation) is a rare heart condition where the right upper chamber of the heart becomes abnormally enlarged without a clear underlying cause like a valve problem or lung disease. 'Familial' means it tends to run in families, suggesting a genetic cause, though the exact gene responsible has not been fully identified in all cases. 'Idiopathic' simply means the enlargement happens on its own, not as a result of another known heart or lung condition. The right atrium is the

How is Familial idiopathic dilatation of the right atrium inherited?

Familial idiopathic dilatation of the right atrium follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.