Overview
Congenital unguarded mitral orifice is an extremely rare heart defect present from birth. In a normal heart, the mitral valve sits between the left atrium (upper chamber) and the left ventricle (lower chamber), acting as a one-way gate that keeps blood flowing in the right direction. In this condition, the mitral valve tissue is absent or severely underdeveloped, meaning there is essentially no functioning valve guarding the opening between these two chambers. This allows blood to flow backward from the ventricle into the atrium, a problem called mitral regurgitation. Because blood leaks backward with each heartbeat, the heart has to work much harder to pump enough blood to the body. Over time, this can lead to enlargement of the heart chambers, heart failure, and problems with the lungs due to increased blood pressure in the pulmonary vessels. Symptoms can appear in infancy or early childhood and may include difficulty breathing, poor feeding, failure to thrive, fatigue, and frequent respiratory infections. Treatment depends on how severe the regurgitation is and how well the heart is coping. Some patients may be managed with medications to reduce the heart's workload and control fluid buildup. In more severe cases, surgical intervention is needed, which may involve mitral valve repair or replacement. Because this condition is so rare, management is highly individualized and typically requires care at a specialized cardiac center with experience in congenital heart disease.
Key symptoms:
Shortness of breath or difficulty breathingPoor feeding in infantsFailure to gain weight or grow normallyFatigue and low energyRapid breathingHeart murmur heard by a doctorSwelling in the legs, ankles, or abdomenFrequent respiratory infectionsBluish tint to the skin or lips in severe casesRapid or irregular heartbeatExcessive sweating, especially during feedingEnlarged heart seen on imaging
Sporadic
Usually appears on its own, not inherited from a parent
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Congenital unguarded mitral orifice.
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Specialists
View all specialists →No specialists are currently listed for Congenital unguarded mitral orifice.
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 Congenital unguarded mitral orifice.
Community
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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.How severe is the mitral valve problem, and is my child's heart compensating well right now?,Will my child need surgery, and if so, when is the best time to do it?,What are the surgical options, and what are the risks and benefits of each?,Are there other heart defects present along with this condition?,What activity restrictions should we follow?,How often will my child need follow-up echocardiograms and cardiology visits?,Should we consider genetic testing to look for an underlying cause or associated conditions?
Common questions about Congenital unguarded mitral orifice
What is Congenital unguarded mitral orifice?
Congenital unguarded mitral orifice is an extremely rare heart defect present from birth. In a normal heart, the mitral valve sits between the left atrium (upper chamber) and the left ventricle (lower chamber), acting as a one-way gate that keeps blood flowing in the right direction. In this condition, the mitral valve tissue is absent or severely underdeveloped, meaning there is essentially no functioning valve guarding the opening between these two chambers. This allows blood to flow backward from the ventricle into the atrium, a problem called mitral regurgitation. Because blood leaks back
How is Congenital unguarded mitral orifice inherited?
Congenital unguarded mitral orifice follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Congenital unguarded mitral orifice typically begin?
Typical onset of Congenital unguarded mitral orifice is neonatal. Age of onset can vary across affected individuals.