Familial mitral valve prolapse

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ORPHA:741OMIM:157700I34.1
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Overview

Familial mitral valve prolapse (also called familial MVP) is an inherited heart condition in which the mitral valve — the valve that sits between the left upper and lower chambers of the heart — does not close properly. Instead of forming a tight seal, one or both of the valve's flaps (called leaflets) bulge or "prolapse" backward into the upper chamber (left atrium) when the heart contracts. This can allow blood to leak backward, a problem called mitral regurgitation. Many people with familial MVP have mild or no symptoms at all and live completely normal lives. When symptoms do occur, they can include heart palpitations (a fluttering or racing heartbeat), chest discomfort, shortness of breath during exercise, fatigue, dizziness, and occasionally anxiety. In some families, the condition can be more severe and lead to significant valve leakage that may require surgical repair. What makes familial MVP different from the more common sporadic form is that it runs in families due to changes (mutations) in specific genes. It is typically inherited in an autosomal dominant pattern, meaning that having just one copy of the altered gene from one parent is enough to cause the condition. Treatment depends on severity and ranges from regular monitoring with echocardiograms in mild cases to medications for symptom control and, in more advanced cases, surgical repair or replacement of the mitral valve. Most people with familial MVP have an excellent outlook, especially with appropriate follow-up care.

Key symptoms:

Heart palpitations or fluttering heartbeatChest pain or discomfortShortness of breath, especially during exerciseFatigue or low energyDizziness or lightheadednessA heart murmur heard by a doctorAnxiety or panic-like episodesExercise intoleranceFainting or near-fainting spellsClicking sound heard with a stethoscopeSwelling in the legs or feet in advanced casesIrregular heartbeat (arrhythmia)

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 mitral valve prolapse.

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No actively recruiting trials found for Familial mitral valve prolapse at this time.

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No specialists are currently listed for Familial mitral valve prolapse.

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 mitral valve prolapse.

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Community

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Latest news about Familial mitral valve prolapse

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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.How severe is my mitral valve prolapse, and is there significant leakage?,How often should I have echocardiograms to monitor my valve?,Should my family members be screened for this condition?,Are there any activities or exercises I should avoid?,Would genetic testing be helpful for my family?,What symptoms should prompt me to seek urgent medical care?,At what point would surgery be recommended, and what type of surgery would be best?

Common questions about Familial mitral valve prolapse

What is Familial mitral valve prolapse?

Familial mitral valve prolapse (also called familial MVP) is an inherited heart condition in which the mitral valve — the valve that sits between the left upper and lower chambers of the heart — does not close properly. Instead of forming a tight seal, one or both of the valve's flaps (called leaflets) bulge or "prolapse" backward into the upper chamber (left atrium) when the heart contracts. This can allow blood to leak backward, a problem called mitral regurgitation. Many people with familial MVP have mild or no symptoms at all and live completely normal lives. When symptoms do occur, they

How is Familial mitral valve prolapse inherited?

Familial mitral valve prolapse follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.