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Loeys-Dietz Syndrome

A rare connective tissue disorder characterized by aggressive aortic aneurysm and dissection.

Written by: Saygı Hospital Health Guide Editorial Board
Published:

This content is for general information; please consult your physician for diagnosis and treatment.

This content is for informational purposes only and does not constitute medical advice. You can book an appointment at our Kardiyoloji department. Book Appointment →

What is Loeys-Dietz Syndrome?

Loeys-Dietz syndrome is an autosomal dominant connective tissue disorder caused by mutations in TGFBR1, TGFBR2, SMAD3, TGFB2 or TGFB3. It follows a more aggressive course than Marfan syndrome.

Aortic aneurysm and dissection can occur at smaller diameters; the threshold for elective surgery is lowered to 4.2–4.5 cm. Widespread vascular tortuosity, bifid uvula, hypertelorism, craniosynostosis and wrist manifestations are common.

Management includes aggressive blood pressure control, losartan or ARB, beta-blockers and early elective aortic surgery.

Symptoms

Bifid uvula
Hypertelorism
Aortic dissection
Arterial tortuosity
Craniosynostosis
Joint hypermobility
Translucent skin

Risk Factors

Family history
TGFBR1/2 mutation
SMAD3 mutation
Family history of early dissection
Arterial tortuosity
Characteristic phenotype
Positive clinical criteria

When to See a Doctor?

If you experience any of the following symptoms, seek medical attention promptly:

  • Aortic aneurysm
  • Family history of Loeys-Dietz
  • Bifid uvula with aortic dilation
  • Unexplained vascular tortuosity
  • Family history of early dissection
  • Characteristic features

Treatment Methods

01
Losartan or ARB
02
Beta-blocker
03
Early elective aortic surgery
04
Genetic counseling
05
Annual cardiac MRI/CT
06
Family screening
07
Multidisciplinary follow-up

Which Department to Visit?

You can visit our Kardiyoloji department for these complaints. Our specialist physicians will create the most suitable treatment plan for you.

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Let us help you

You can make an appointment with our specialists or contact us for your concerns.

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Health Disclaimer: The information on this page is prepared for general informational purposes only. It does not replace medical diagnosis and treatment. Please consult your physician for your complaints. Saygı Hospital does not accept responsibility for actions taken based on the information on this page.