Brachydactyly Type E With Atrial Septal Defect Type 2 C1862101
A genetic syndrome featuring short finger bones and a congenital heart defect with a hole between the upper heart chambers. Cardiac monitoring and possible repair are needed.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Atrial septal defect
(cardiovascular)Generalized symptoms
(congenital)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Brachydactyly
(musculoskeletal)Short metacarpals
(musculoskeletal)Short stature
(musculoskeletal)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Atrial septal defect closure
Surgical or transcatheter closure of the atrial septal defect type 2 to prevent long-term cardiac complications such as right heart failure, pulmonary hypertension, and arrhythmias.
Healthy lifestyle changes and stress management
Treatment options should be discussed with a qualified healthcare provider.
Cardiac surveillance
Regular cardiology follow-up with echocardiography to monitor shunt size, ventricular function, pulmonary pressures, and arrhythmia risk until surgical correction.
Additional treatment options
Activity modification and cardiac rehabilitation
Guided activity restrictions based on cardiac status, with supervised cardiac rehabilitation program after any surgical intervention to optimize cardiovascular fitness.
lifestyleCardiac catheterization for diagnosis and intervention
Catheter-based evaluation of cardiac anatomy and hemodynamics, with potential for device closure of ASD in appropriate cases without open heart surgery.
procedureOrthopedic management of brachydactyly
Surgical evaluation for hand abnormalities including possible toe transfers, epiphyseal stapling, or other procedures to improve hand function and appearance if symptomatic.
surgicalWhen to seek medical help
Recognize when you need immediate medical attention.
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Frequently asked questions
Common questions about this topic.
What is Brachydactyly Type E With Atrial Septal Defect Type 2 C1862101?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
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Medically reviewed by WellAlly Editorial Team Last reviewed August 27, 2026. · Read our editorial policy