Loeys Dietz Syndrome 2 C2674574
A genetic connective tissue disorder caused by SMAD3 gene changes. It can affect blood vessels, joints, and skin. Lifelong monitoring helps manage risks and improve outcomes.
Key facts at a glance
- ICD-10
- I78.0
- ICD-11
- BA00.0
- Body system
- cardiovascular
- Severity
- severe
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Chest discomfort or palpitations
(cardiovascular)Significant symptoms that substantially affect daily functioning.
Frequency: Common at all stages
Dyspnea on exertion
(cardiovascular)Palpitations
(cardiovascular)Easy bruising
(cardiovascular)Arachnodactyly
(cardiovascular)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
Comprehensive vascular imaging surveillance
Regular imaging of entire arterial tree including CT angiography or MR angiography to detect aneurysms beyond aorta. Essential for detecting involvement of branch vessels and peripheral arteries.
Disease management and monitoring
Active treatment with regular monitoring by a healthcare provider is recommended.
Angiotensin receptor blocker therapy
ARB therapy shown to reduce aortic growth rate and matrix metalloproteinase activity. May be preferred or combined with beta-blockers for enhanced vascular protection in TGF-beta pathway disorders.
Additional treatment options
Vascular aneurysm repair
Surgical or endovascular repair of symptomatic or large aneurysms in cerebral, mesenteric, or peripheral vessels. Requires multidisciplinary vascular team coordination.
surgicalAortic surgery with lower threshold
Elective aortic surgery at smaller diameters than other conditions due to aggressive natural history. LDS2 may warrant intervention at 4.0-4.5cm depending on rate of growth and family history.
surgicalMultidisciplinary care coordination
Coordinated care across genetics, cardiology, vascular surgery, neurology, and ophthalmology. Ensures comprehensive surveillance and timely intervention across all organ systems affected.
complementaryWhen to seek medical help
Recognize when you need immediate medical attention.
See a doctor within 24 hours
Moderate to severe symptoms that may indicate worsening of this condition. Prompt medical evaluation is recommended.
Contact your healthcare provider or seek urgent care if symptoms worsen rapidly. Go to the emergency department for life-threatening symptoms.
Frequently asked questions
Common questions about this topic.
What is Loeys Dietz Syndrome 2 C2674574?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalMedication Comparisons
Compare medications used to treat Loeys Dietz Syndrome 2 C2674574. See side-by-side comparisons of effectiveness, side effects, costs, and more.
View Medication ComparisonsThis information is for educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment.
This content is for general informational and educational purposes only and is not a substitute for professional medical advice, diagnosis, or treatment. Always seek the guidance of a qualified healthcare provider with any questions you have about a medical condition, and never disregard professional medical advice or delay seeking it because of something you read here.
If you think you may have a medical emergency, call your local emergency number or go to the nearest emergency department immediately.
Medically reviewed by WellAlly Editorial Team Last reviewed August 26, 2026. · Read our editorial policy