Overview
Mitral atresia is a rare and serious heart defect that a baby is born with. In this condition, the mitral valve — the valve that normally allows blood to flow from the upper left chamber of the heart to the lower left chamber — is completely absent or severely underdeveloped. Because blood cannot pass through this valve, the normal flow of blood through the heart is blocked. This forces the heart to find alternative pathways to keep blood moving, which puts enormous strain on the heart and lungs. Babies with mitral atresia often have other heart defects at the same time, such as a hole between the upper chambers of the heart (called an atrial septal defect), a small or underdeveloped left ventricle, or problems with the aorta. Together, these defects are sometimes grouped under the broader term 'hypoplastic left heart syndrome' or other complex congenital heart disease categories, depending on the exact anatomy. Symptoms appear very soon after birth and include bluish skin color (cyanosis), rapid or difficult breathing, poor feeding, and signs of heart failure. Without treatment, this condition is life-threatening in the newborn period. Treatment involves a series of open-heart surgeries, and in some cases, heart transplantation. With advances in pediatric cardiac surgery, many children with mitral atresia can survive into childhood and beyond, though they require lifelong specialized cardiac care.
Key symptoms:
Bluish or grayish skin color, especially around the lips and fingernails (cyanosis)Very fast or labored breathingDifficulty feeding or tiring quickly during feedingPoor weight gain in infancySwelling in the legs, abdomen, or around the eyesExtreme tiredness or low energyPale or mottled skinRapid or irregular heartbeatCool or clammy skinFainting or loss of consciousness
Multifactorial
Caused by a mix of several genes and environmental factors
Neonatal
Begins at or shortly after birth (first 4 weeks)
FDA & Trial Timeline
1 eventNationwide Children's Hospital — PHASE2
Data sourced from FDA regulatory filings and ClinicalTrials.gov. Updated periodically.
Treatments
No FDA-approved treatments are currently listed for Mitral atresia.
1 clinical trialare actively recruiting — trials can provide access to cutting-edge therapies.
View clinical trials →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 Mitral atresia.
Community
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Start the conversation →Latest news about Mitral atresia
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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.What is the exact anatomy of my child's heart defect, and how does it affect the surgical plan?,What is the recommended surgical pathway for my child, and what are the risks of each operation?,What signs should I watch for at home that mean I need to call for emergency help?,Will my child need genetic testing, and what does that mean for our family?,What are the long-term risks of the Fontan circulation, and how will we monitor for complications?,Are there any activity restrictions my child should follow, and will these change over time?,What support services — such as feeding specialists, developmental support, or mental health resources — are available for our family?
Common questions about Mitral atresia
What is Mitral atresia?
Mitral atresia is a rare and serious heart defect that a baby is born with. In this condition, the mitral valve — the valve that normally allows blood to flow from the upper left chamber of the heart to the lower left chamber — is completely absent or severely underdeveloped. Because blood cannot pass through this valve, the normal flow of blood through the heart is blocked. This forces the heart to find alternative pathways to keep blood moving, which puts enormous strain on the heart and lungs. Babies with mitral atresia often have other heart defects at the same time, such as a hole betwee
How is Mitral atresia inherited?
Mitral atresia follows a multifactorial inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Mitral atresia typically begin?
Typical onset of Mitral atresia is neonatal. Age of onset can vary across affected individuals.
Are there clinical trials for Mitral atresia?
Yes — 1 recruiting clinical trial is currently listed for Mitral atresia on UniteRare. See the clinical trials section on this page for phase, sponsor, and site details sourced from ClinicalTrials.gov.
Which specialists treat Mitral atresia?
1 specialists and care centers treating Mitral atresia are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.