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Last updated: August 30, 2021
Years published: 2021
NORD gratefully acknowledges Greg Cichon, MD candidate, Creighton School of Medicine and Rudy Lackner, MD, Chief of Thoracic Surgery, University of Nebraska Medical Center, for the preparation of this report.
Summary
Congenital tracheomalacia is a rare childhood form of tracheomalacia in which the cartilage around the windpipe (trachea) is weak at birth. As the infant breathes out, the trachea collapses making it difficult to breathe. Symptoms range from mild to severe shortness of breath (particularly during exercise and eating), loud breathing (stridor), bluish skin (cyanosis) and recurrent airway infections. Tracheomalacia is associated with many childhood syndromes (i.e. Ehlers Danlos syndrome, bronchopulmonary dysplasia) and congenital diseases (i.e. tracheoesophageal fistula, double aortic arch) that weaken or compress the trachea. A weakened or compressed airway may occur by itself or alongside other airway abnormalities.
Children will have a harder time clearing mucus as the trachea collapses, which can lead to recurrent infections and difficulty breathing. If the trachea narrows >50% when exhaling, more symptoms will likely be present. These symptoms often resolve by themselves before the child turns 2 years old and can be managed by a team of clinicians. Treatment usually includes physical therapy, continuous positive pressure ventilation (CPAP) and monitoring for respiratory infections. More severe cases may need surgery to hold open the airway or relieve anything compressing it. Case severity may vary widely, but prognosis has continually improved with supportive measures.
Many patients with congenital tracheomalacia do not have symptoms. The most common symptoms include:
Congenital tracheomalacia can be associated with:
The prevalence of congenital tracheomalacia is roughly estimated to be around 1 in 2,100 livebirths. It is often associated with certain genetic conditions or structural birth defects (see Causes).
Congenital tracheomalacia is diagnosed by bronchoscopy to visualize the airway collapsing as the patient breathes. The patient is awake but numbed so they can take deep breaths during the procedure. Additional imaging may include a CT scan, a chest x-ray and/or an MRI to determine if a blood vessel is compressing the airway.
Clinical Testing and Work-up
Many cases of congenital tracheomalacia are found incidentally if the symptoms are mild or absent. The clinician will take a thorough history from the patient and a respiratory physical exam. They may then order pulmonary function tests to indicate the degree that the patientโs breathing is affected. These tests are important to rule out other conditions such as asthma, a foreign body and pneumonia. The clinician will likely order imaging tests such as a CT scan, chest x-ray and/or MRI of the chest. A diagnosis is made by inserting a small camera into the airway (bronchoscopy) and seeing the weak trachea collapse as the patient breathes deeply.
Since many cases of congenital tracheomalacia resolve before two years of age, the objective is to manage any symptoms by a multidisciplinary team of professionals. These therapies may include:
Standard Therapies
Treatment
Only severe cases which do not resolve on their own will need surgical treatment. A team of specialists including interventional pulmonologists, respiratory therapists, radiologists and surgeons work together to care for patients. Age and other conditions that the patient has are factored in as the treatment team considers advanced treatment. In some patients, treating the underlying condition improves the symptoms of congenital tracheomalacia. Depending on severity, treatment options for congenital tracheomalacia may include:
Information on current clinical trials is posted on the Internet at https://clinicaltrials.gov/ All studies receiving U.S. Government funding, and some supported by private industry, are posted on this government web site.
For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:
Tollfree: (800) 411-1222
TTY: (866) 411-1010
Email: [email protected]
Some current clinical trials also are posted on the following page on the NORD website:
https://rarediseases.org/living-with-a-rare-disease/find-clinical-trials/
For information about clinical trials sponsored by private sources, contact:
https://www.centerwatch.com/
For information about clinical trials conducted in Europe, contact:
https://www.clinicaltrialsregister.eu/
Wallis C, Alexopoulou E, Antรณn-Pacheco JL, Bhatt JM, Bush A, Chang AB, Charatsi AM, Coleman C, Depiazzi J, Douros K, Eber E, Everard M, Kantar A, Masters IB, Midulla F, Nenna R, Roebuck D, Snijders D, Priftis K. ERS statement on tracheomalacia and bronchomalacia in children. Eur Respir J. 2019 Sep;54(3)
Hysinger EB. Laryngomalacia, Tracheomalacia and Bronchomalacia. Current problems in pediatric and adolescent health care. 2018; 48(4), 113โ118. doi:10.1016/j.cppeds.2018.03.002
Schwartz DS. Tracheomalacia. Medscape Reference. July 20, 2016; https://emedicine.medscape.com/article/426003-overview.
Hysinger EB, Panitch HB. Paediatric Tracheomalacia. Paediatr. Respir. Rev. 2016; 17:9-15. https://www.ncbi.nlm.nih.gov/pubmed/25962857.
Oermann CM. Congenital anomalies of the intrathoracic airways and tracheoesophageal fistula. UpToDate. Dec 7, 2016.
Snijders D, Barbato A. An update on diagnosis of tracheomalacia in children. Eur J Pediatr Surg. 2015; 25(4):333-335. https://www.ncbi.nlm.nih.gov/pubmed/26276910.
Goyal V, Masters IB, Chang AB. Interventions for primary (intrinsic) tracheomalacia in children. Cochrane Database Syst Rev. 2012 Oct 17;10:CD005304.
Carden KA, Boiselle PM, Waltz DA, Ernst A. Tracheomalacia and tracheobronchomalacia in children and adults: an in-depth review. Chest. 2005 Mar;127(3):984-1005.
Boogaard R, Huijsmans SH, Pijnenburg MW, Tiddens HA, de Jongste JC, Merkus PJ. Tracheomalacia and bronchomalacia in children: incidence and patient characteristics. Chest. 2005 Nov;128(5):3391-7.
Testing & Diagnosis for Tracheomalacia in Children. Boston Childrenโs Hospital. https://www.childrenshospital.org/conditions-and-treatments/conditions/t/tracheomalacia/testing-and-diagnosis.
Tracheomalacia Symptoms & Causes. Boston Childrenโs Hospital. https://www.childrenshospital.org/conditions-and-treatments/conditions/t/tracheomalacia/symptoms-and-causes.
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NORD and MedicAlert Foundation have teamed up on a new program to provide protection to rare disease patients in emergency situations.
Learn more https://rarediseases.org/patient-assistance-programs/medicalert-assistance-program/Ensuring that patients and caregivers are armed with the tools they need to live their best lives while managing their rare condition is a vital part of NORDโs mission.
Learn more https://rarediseases.org/patient-assistance-programs/rare-disease-educational-support/This first-of-its-kind assistance program is designed for caregivers of a child or adult diagnosed with a rare disorder.
Learn more https://rarediseases.org/patient-assistance-programs/caregiver-respite/No patient organizations found related to this disease state.
The information provided on this page is for informational purposes only. The National Organization for Rare Disorders (NORD) does not endorse the information presented. The content has been gathered in partnership with the MONDO Disease Ontology. Please consult with a healthcare professional for medical advice and treatment.
The Genetic and Rare Diseases Information Center (GARD) has information and resources for patients, caregivers, and families that may be helpful before and after diagnosis of this condition. GARD is a program of the National Center for Advancing Translational Sciences (NCATS), part of the National Institutes of Health (NIH).
View reportOrphanet has a summary about this condition that may include information on the diagnosis, care, and treatment as well as other resources. Some of the information and resources are available in languages other than English. The summary may include medical terms, so we encourage you to share and discuss this information with your doctor. Orphanet is the French National Institute for Health and Medical Research and the Health Programme of the European Union.
View report
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