What is Mitral valve agenesis?
Mitral valve agenesis (also referred to as congenital absence of the mitral valve) is an extremely rare congenital heart defect in which the mitral valve, which normally separates the left atrium from the left ventricle, fails to develop during fetal cardiac formation. This condition is classified under congenital malformations of the aortic and mitral valves (ICD-10: Q23.3). Because the mitral valve plays a critical role in directing oxygenated blood from the lungs into the left ventricle for systemic circulation, its absence leads to severe hemodynamic compromise, typically presenting at birth or in the neonatal period. Affected infants usually present with severe heart failure, cyanosis, respiratory distress, and failure to thrive shortly after birth. The condition is frequently associated with other congenital cardiac anomalies, including hypoplastic left heart structures, atrial septal defect, ventricular septal defect, and abnormalities of the great arteries. The left ventricle is often underdeveloped (hypoplastic) because it receives inadequate blood flow during fetal development. Pulmonary hypertension and pulmonary venous congestion are common consequences. Management of mitral valve agenesis is primarily surgical and depends on the severity of associated cardiac malformations. In cases with significant left heart hypoplasia, a staged single-ventricle palliation approach (similar to that used for hypoplastic left heart syndrome) may be pursued, including the Norwood procedure, Glenn procedure, and Fontan completion. In rare cases where the left ventricle is adequately developed, biventricular repair with mitral valve replacement may be considered. The prognosis remains guarded, with outcomes heavily influenced by the extent of associated anomalies and the feasibility of surgical intervention. Early diagnosis via fetal echocardiography can aid in planning delivery and postnatal management at specialized cardiac centers.
- Inheritance
- Sporadic
- Usually appears on its own, not inherited from a parent
- Age of Onset
- Neonatal
- Begins at or shortly after birth (first 4 weeks)
Treatments
Source: openFDA + DailyMed · NDA / BLA labels with structured indications · refreshed weekly
No FDA-approved treatments are currently listed for Mitral valve agenesis.
View clinical trials →Clinical Trials
View all trials with filters →Source: ClinicalTrials.gov · synced daily · phases, status, and PI names normalized at ingest
No actively recruiting trials found for Mitral valve agenesis at this time.
New trials open frequently. Follow this disease to get notified.
Specialists
View all specialists →Source: NPI Registry + PubMed · trial PI roles cross-referenced with ClinicalTrials.gov · ranked by match score (publications + PI activity + community signal)
No specialists are currently listed for Mitral valve agenesis.
Treatment Centers
8 centersSource: NORD Rare Disease Centers + NIH Undiagnosed Diseases Network (UDN) · centers verified active within last 12 months
Children's Hospital Colorado Rare Disease Program ↗
Children's Hospital Colorado
📍 Aurora, CO
👤 Boston Children's Hospital Rare Disease Program
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDBoston Children's Hospital Rare Disease Program ↗
Boston Children's Hospital
📍 Boston, MA
👤 Boston Children's Hospital Rare Disease Program
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
🏨 Children'sAnn & Robert H. Lurie Children's Hospital Genetics ↗
Lurie Children's Hospital
📍 Chicago, IL
👤 Boston Children's Hospital Rare Disease Program
🏥 NORDCincinnati Children's Hospital Medical Center ↗
Cincinnati Children's
📍 Cincinnati, OH
👤 Boston Children's Hospital Rare Disease Program
🏨 Children'sNationwide Children's Hospital Rare Disease Center ↗
Nationwide Children's Hospital
📍 Columbus, OH
👤 Boston Children's Hospital Rare Disease Program
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
Travel Grants
No travel grants are currently matched to Mitral valve agenesis.
Community
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Start the conversation →Latest news about Mitral valve agenesis
Source: PubMed + NIH RePORTER + openFDA + clinical-journal RSS · last 30 days · disease-tagged at ingest by AI extraction with human QC
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Caregiver Resources
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Common questions about Mitral valve agenesis
What is Mitral valve agenesis?
Mitral valve agenesis (also referred to as congenital absence of the mitral valve) is an extremely rare congenital heart defect in which the mitral valve, which normally separates the left atrium from the left ventricle, fails to develop during fetal cardiac formation. This condition is classified under congenital malformations of the aortic and mitral valves (ICD-10: Q23.3). Because the mitral valve plays a critical role in directing oxygenated blood from the lungs into the left ventricle for systemic circulation, its absence leads to severe hemodynamic compromise, typically presenting at bir
How is Mitral valve agenesis inherited?
Mitral valve agenesis follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Mitral valve agenesis typically begin?
Typical onset of Mitral valve agenesis is neonatal. Age of onset can vary across affected individuals.
Frequently asked questions about Mitral valve agenesis
Auto-generated from canonical disease facts (Orphanet, OMIM, ClinicalTrials.gov, openFDA, NPPES). Not a substitute for clinical guidance.
What is Mitral valve agenesis?
Mitral valve agenesis is a rare disease catalogued in international rare-disease ontologies (Orphanet ORPHA:99062). It is typically inherited as sporadic. Age of onset is generally neonatal. For verified primary sources, see the UniteRare Mitral valve agenesis page.
How is Mitral valve agenesis inherited?
Mitral valve agenesis follows sporadic inheritance. Genetic counseling is recommended for affected families to understand recurrence risk in offspring and the likelihood of unaffected siblings being carriers. Variants in the underlying gene(s) may be identified via clinical genetic testing.
Are there FDA-approved treatments for Mitral valve agenesis?
Approved treatments for Mitral valve agenesis are tracked from openFDA and DailyMed primary sources. Many rare diseases have no specific FDA-approved therapy; for those, supportive care and management of complications form the basis of clinical care. Orphan-drug-designation status is noted where applicable.
Are there clinical trials for Mitral valve agenesis?
Active clinical trials for Mitral valve agenesis are tracked daily from ClinicalTrials.gov. Trial availability changes frequently; check the UniteRare trial listings for the current count and recruitment status. Sponsors of rare-disease research often welcome inquiries even when a trial is not actively recruiting at a given moment.
How do I find a specialist for Mitral valve agenesis?
Verified Mitral valve agenesis specialists are identified through ClinicalTrials.gov principal-investigator records, peer-reviewed publication authorship (via PubMed), and the NPPES NPI registry. NORD-designated Centers of Excellence and NIH-affiliated rare-disease clinics are also tracked. UniteRare's specialist directory is updated continuously as new evidence becomes available.
See full Mitral valve agenesis page for complete clinical details, sources, and verified-specialist listings.
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