Arterial Tortuosity Syndrome :‎ Medical Notes & Mindmap

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Arterial Tortuosity Syndrome (ATS) is a rare genetic condition that affects the blood vessels in the body. It is marked by abnormal twisting and bending of the major arteries, which can cause less blood flow to vital organs and tissues and, in some cases, aortic aneurysms.

Mutations in the gene that codes for fibrillin-1, a protein that gives blood vessels their shape, are what cause this condition. ATS can cause stomach pain, tiredness, and, in rare cases, a stroke or heart attack.

Most of the time, the disease is found in children or teenagers. It can be treated with medicine or surgery to stop or fix blood vessel damage.

Arterial Tortuosity Syndrome :‎ [MEDNOTES+MINDMAP]

  • Definition :
    • A rare genetic disorder characterized by abnormal curvature and twisting of the large and medium-sized arteries in the body
  • Epidemiology :
    • Prevalence is unknown but estimated to be rare
    • Inherited in an autosomal recessive pattern
  • Natural history :
    • Can vary depending on the severity and location of the affected arteries
    • Can lead to decreased blood flow, aneurysms, and thrombosis
    • Can also cause organ damage and decreased life expectancy
  • Types :
    • Type 1: characterized by tortuosity of the aorta and its branches
    • Type 2: characterized by tortuosity of the renal and iliac arteries
    • Type 3: characterized by tortuosity of the pulmonary artery
    • Type 4: characterized by tortuosity of the carotid artery
  • Risk Factors :
    • Genetic mutations
    • Inheritance patterns (autosomal recessive or dominant)
    • Connective tissue disorders
    • Marfan syndrome
  • Etiology/Causes :
    • Genetic mutations in genes such as TGFBR1, TGFBR2, SMAD3, and FBN1
    • Defects in connective tissue proteins such as fibrillin and elastin
  • Signs :
    • Tortuous and elongated arterial vessels
    • Aneurysms
    • Dissection of blood vessels
    • Arterial stenosis
  • Symptoms :
    • Pain or discomfort in affected areas
    • Fatigue
    • Weakness
    • Loss of mobility
  • Pathology/Pathogenesis :
    • Abnormal formation and structure of arterial walls
    • Weakened and fragile arterial walls
    • Increased susceptibility to damage and rupture of arterial vessels
    • Progressive deterioration of arterial health over time.
  • Diagnosis :
    • Clinical examination
    • Ultrasound
    • Angiography
    • Genetic testing
  • Tests Required :
    • Cardiac evaluation
    • Ophthalmologic evaluation
    • Neurologic evaluation
    • Vascular evaluation
  • Associated with :
    • Ehlers-Danlos syndrome
    • Marfan syndrome
    • Loeys-Dietz syndrome
    • Turner syndrome
  • Similar diseases/syndromes :
    • Arterial aneurysm
    • Arterial dissection
    • Arterial stenosis
  • Treatment :
    • Surgical intervention
    • Vascular stents
    • Angioplasty
    • Medications (e.g. blood thinners)
    • Physical therapy/exercise
    • Regular monitoring for complications/progression of disease.

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Dr. Arin Nandi

Passionate About Medical Science & Helping Future Doctors Achieve Top Ranks In Medical Exams. He is professionally a dentist as well as a public health expert from JIPMER working in govt.health department
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