Living with Congenital tracheobronchomegaly
A lung condition (Mounier-Kuhn syndrome) in which the windpipe and large airways are widened, causing repeated infections.
Understanding Congenital tracheobronchomegaly
People develop frequent respiratory infections and a recurring cough. It can be diagnosed with lung function tests, bronchoscopy, and a chest CT scan. GARD says cigarette smoke and air pollutants may irritate the airways. Some cases are linked to connective tissue diseases, such as Ehlers-Danlos syndrome, Marfan syndrome, and cutis laxa. It can show up at any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Repeated cough
- Frequent lung and airway infections
- Bronchitis
- Pneumonia
- Widened windpipe and airways
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include lung and breathing specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Lung and breathing specialists (pulmonologists)
- 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
Quick facts
GARD says the cause is unknown. Some cases are linked to connective tissue diseases and may be inherited. GARD lists autosomal recessive inheritance.
Also known as: idiopathic tracheobronchomegaly; mounier-kuhn syndrome; mounier-kühn syndrome; tracheobronchomegaly
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital tracheobronchomegaly.
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