Loeys-Dietz syndrome 3.75/5 (4)

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Loeys-Dietz syndrome is a hereditary (autosomal dominant) disease that may resemble Marfan Syndrome. Along with vascular form of Ehlers-Danlos syndrome (which attacks blood vessels) and hereditary thoracic aortic aneurysm (HTAD), the disease is among the hereditary "Marfan-like" diseases. Loeys-Dietz syndrome is therefore not one autoimmune" connective tissue disease. Genetic tests have revealed several forms (6 different types as of 2019). Many have had family members who died suddenly at a young age.


Thus, Loeys-Dietz syndrome is defined as one rare disease.

Disease Cause

TGF-beta receptor 1 or 2 mutation encoding TGFBR1 or 2.


Cardiac Disease of Loeys-Dietz Syndrome. CT and ultrasound images. Uike K, 2013. CC BY 2.0


Incorrect diagnosis (similar conditions, differential diagnoses)

Differential diagnoses of other "Marfan-like" diseases:


Increased risk of enlargement of the main artery, usually near the heart and in the aortic arch.

  • Loeys-Dietz syndrome is thus one of the causes of enlargement of the main artery (aneurysms)
  • Aortic dissection (damage to the blood vessel wall)


No curative treatment is available

  • If enlargement of the arteries (aneurysms) occur, may surgery to prevent the artery from bursting (aortaruptur) become necessary.
    • Karate surgeons / thoracic surgeons have guidelines for when operations should be performed.
  • Blood pressure measurements are important to detect any high blood pressure that may increase the risk of aortic aneurysms
  • Usual physical activity is recommended. Intensive, hard physical exercise increases the pressure on the blood vessels and should be avoided
  • Cortisone and other immunosuppressive treatment have no place in the treatment of hereditary connective tissue diseases, unlike autoimmune connective tissue disease


Regular blood vessel monitoring is important

  • MRI angiography produces the major arteries from the head, neck, chest, abdomen and pelvis
  • Also with ultrasound Doppler / echocardiography the diameter of the main artery at the heart and the aortic arch can be measured
  • If the artery expands, measurements are made at least every six months, otherwise annually for a longer period
  • Also during CT examination the entire main artery can be displayed. The investigation is not done too often because of X-rays


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