Skip to content
knowrare
HealthSignal
Your condition community

Living with Congenital mitral stenosis

A heart valve problem present at birth that narrows the opening that lets blood flow into the left lower heart chamber.

Understanding Congenital mitral stenosis

Congenital mitral stenosis is a heart defect present at birth in which the mitral valve blocks blood from flowing easily into the left ventricle.

It covers a range of valve differences that can affect the valve ring, flaps (leaflets), or supporting parts. It may occur alone or with other heart defects. How it shows up depends on how much the flow is blocked, whether blood leaks backward, and whether there is high blood pressure in the lungs.

Signs & symptoms

Symptoms vary from person to person. GARD's summary mentions these:

  • Lung infections
  • Poor weight gain (failure to thrive)
  • Shortness of breath with activity
  • Cough
  • Bluish skin color (cyanosis)
  • Congestive heart failure

Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.

Diagnosis

  1. Talk with your doctor

    Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.

  2. See a specialist

    Specialists who may be involved include heart and blood vessel specialists.

  3. Ask which tests can help

    Your care team will decide which exams and tests can confirm the diagnosis.

Care & treatment

Care team
Heart and blood vessel specialists (cardiologists)
Expert care
Ask about multidisciplinary care centers for rare conditions
Treatment
GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
Research
Clinical trials and observational studies may be options. See the research section below.

General information, not medical advice. Your care team makes the decisions.

Everyday life

Living with a rare condition is easier with support.

  • Connect with rare disease patient organizations for support
  • Keep notes on symptoms, changes and questions for appointments
  • Ask about patient registries that help research
  • Look into financial aid and travel resources for care visits
Bring these questions to your next doctor visit
How much is the valve blocking blood flow in my child's heart?
Are there other heart differences along with the mitral valve?
What treatment options and follow-up heart tests will we need?

Quick facts

GARD doesn't describe a cause for this condition yet.

Also known as: congenital mitral stenosis (disease); congenital mitral valve stenosis; congenital stenosis of mitral valve; duroziez's disease; hereditary mitral valve stenosis; ms - congenital mitral stenosis

Patient organizations

Rare-disease groups that can help

Source: NIH GARD · Congenital mitral stenosisGARD ID 1496 · GARD page updated September 2026 · Plain-language summary by Know Rare; editorial review pending. General information, not medical advice.

You are more than your diagnosis

Perspectives from people navigating life with Congenital mitral stenosis.

Explore the Congenital mitral stenosis blog

Explore research for Congenital mitral stenosis

Explore actively recruiting Congenital mitral stenosis studies with HealthSpark.

HealthSpark

Find actively recruiting studies for Congenital mitral stenosis with HealthSpark. Share your city to explore research near you.

  • Recruiting studies from ClinicalTrials.gov
  • Share your city to look for research near you
  • Eligibility is confirmed by the study team

Powered by HealthSpark, our AI chat helper

I can help you find recruiting Congenital mitral stenosis studies. Enter a ZIP code, address or city below and I'll look within 50 miles.

Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.

Get Signals for Congenital mitral stenosis

Stay in the loop with community stories and updates from medical researchers.

HealthStoryfor Congenital mitral stenosis

Create a living journal that talks back

HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Congenital mitral stenosis experiences more deeply and prepare for better conversations with your doctors and care team.

Start your journal

Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.