Overview
Macrothrombocytopenia with mitral valve insufficiency is a very rare inherited blood and heart condition. The name describes its two main features: macrothrombocytopenia, which means having fewer platelets than normal in the blood and those platelets being unusually large, and mitral valve insufficiency, which means the mitral valve in the heart does not close properly, allowing blood to leak backward. Platelets are tiny blood cells that help your body form clots to stop bleeding, so having too few of them can lead to easy bruising and prolonged bleeding after injuries, surgery, or dental work. The leaky mitral valve can cause symptoms such as shortness of breath, fatigue, and heart palpitations, especially during physical activity. This condition is sometimes also referred to as macrothrombocytopenia and progressive deafness, though hearing loss is not always present in all affected individuals. Because this disease is so rare, treatment is mainly supportive. Platelet transfusions may be needed before surgery or during serious bleeding episodes. The heart valve problem is monitored by a cardiologist, and in some cases, surgical repair or replacement of the mitral valve may be necessary if the leaking becomes severe. There is currently no cure that addresses the underlying genetic cause of this condition.
Key symptoms:
Easy bruisingProlonged bleeding after cuts or injuriesHeavy or prolonged menstrual periods in womenNosebleeds that are hard to stopExcessive bleeding after dental procedures or surgeryShortness of breathFatigue or tirednessHeart palpitations or irregular heartbeatHeart murmur detected by a doctorSmall red or purple spots on the skin (petechiae)Hearing loss in some casesSwelling in the legs or ankles in advanced heart disease
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 Macrothrombocytopenia with mitral valve insufficiency.
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Specialists
View all specialists →No specialists are currently listed for Macrothrombocytopenia with mitral valve insufficiency.
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 Macrothrombocytopenia with mitral valve insufficiency.
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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.How severe is my platelet count reduction, and how does it affect my bleeding risk?,How severe is the mitral valve leak, and how often should it be monitored?,What precautions should I take before dental work or surgery?,Are there medications I should avoid because of my low platelet count?,Should my family members be tested for this condition?,At what point would the mitral valve need surgical repair or replacement?,Should I have a hearing test, and how often should it be repeated?
Common questions about Macrothrombocytopenia with mitral valve insufficiency
What is Macrothrombocytopenia with mitral valve insufficiency?
Macrothrombocytopenia with mitral valve insufficiency is a very rare inherited blood and heart condition. The name describes its two main features: macrothrombocytopenia, which means having fewer platelets than normal in the blood and those platelets being unusually large, and mitral valve insufficiency, which means the mitral valve in the heart does not close properly, allowing blood to leak backward. Platelets are tiny blood cells that help your body form clots to stop bleeding, so having too few of them can lead to easy bruising and prolonged bleeding after injuries, surgery, or dental work
How is Macrothrombocytopenia with mitral valve insufficiency inherited?
Macrothrombocytopenia with mitral valve insufficiency follows a autosomal dominant inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.