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Related Concept Videos

Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation01:21

Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation

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Clinical manifestationsPeripheral Arterial Disease (PAD) manifests through a range of symptoms, from the characteristic intermittent claudication to atypical presentations and severe complications in advanced stages. Intermittent claudication, a hallmark symptom of PAD, presents as exercise-induced muscle pain that typically resolves within minutes of rest. This pain is reproducible and stems from inadequate blood flow, leading to the accumulation of lactic acid produced during anaerobic...
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Atherosclerosis II: Clinical Manifestations and Diagnostic Tests01:27

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Atherosclerosis is a progressive disorder that leads to the thickening and narrowing of arterial walls due to plaque buildup. This condition can cause various symptoms depending on the arteries affected:Coronary Artery Disease (CAD): This condition affects the coronary arteries and may lead to chest pain (angina), shortness of breath (dyspnea), heart attacks, and other heart disease symptoms.Cerebrovascular Disease: This affects blood flow to the brain, causing transient ischemic attacks (TIAs)...
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Peripheral Artery Disease I: Introduction01:30

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Peripheral artery disease (PAD) predominantly results from atherosclerosis, which involves the accumulation of fatty deposits, or plaques, within the walls of arteries. This causes them to narrow and harden, significantly reducing blood flow. PAD predominantly affects the legs, particularly the arteries supplying the thighs and calves. In rare cases, it may involve other arteries, including those in the arms.Etiology of PAD:The principal cause of PAD is atherosclerosis, which results from fatty...
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Aneurysm II: Clinical Manifestations and Diagnostic Studies01:21

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Thoracic, aortic arch and abdominal aneurysms are significant vascular conditions that can present with various clinical manifestations and lead to serious complications. Understanding these manifestations and the appropriate diagnostic studies is essential for effective management and treatment.Thoracic Aortic AneurysmsThoracic aortic aneurysms often remain asymptomatic until they reach a size that impinges on adjacent structures. They typically cause deep, diffuse chest pain that radiates to...
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Overview of Systemic Arteries01:11

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The human body is a complex, well-organized machine, and at the heart of its operations lies the circulatory system. This network of blood vessels, which includes systemic arteries, plays a vital role in maintaining life by transporting nutrients, oxygen, and waste products to and from cells throughout the body.
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Aneurysm I: Introduction01:30

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An aortic aneurysm is a localized outpouching or dilation at a weak point in the artery wall. It may involve different parts of the aorta, such as the abdominal aorta, aortic arch, or thoracic aorta.Etiological factorsSeveral disorders are associated with aortic aneurysms.Congenital causes, such as primary connective tissue disorders like Marfan syndrome, impact the integrity and strength of connective tissues, notably affecting the aorta. Marfan syndrome is a genetic disorder that specifically...
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Related Experiment Video

Updated: Sep 12, 2025

Murine Spinotrapezius Model to Assess the Impact of Arteriolar Ligation on Microvascular Function and Remodeling
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Arterial tortuosity syndrome.

Dilini N P Nanayakkara1, Ruth Hartley2, Haren Eranga Wijesinghe2

  • 1Department of Radiology, University Hospitals Birmingham NHS Foundation Trust, Birmingham, UK dilininpn@yahoo.com.

BMJ Case Reports
|August 4, 2025
PubMed
Summary

Arterial tortuosity syndrome (ATS) is a rare genetic connective tissue disorder causing artery abnormalities. Correctly diagnosing ATS is crucial for managing patient health and planning future interventions.

Keywords:
Anatomic VariationArteriesGeneticsTortuous arteriesValvular diseases

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Area of Science:

  • Genetics
  • Cardiovascular Medicine
  • Connective Tissue Disorders

Background:

  • Arterial tortuosity syndrome (ATS) is a rare autosomal recessive connective tissue disorder.
  • It is characterized by elongation and tortuosity of large and medium-sized arteries, leading to dilatation and/or stenosis.
  • Associated features include joint laxity, hernias, distinct facial features, and cardiac abnormalities like valvular regurgitation.

Purpose of the Study:

  • To present a case of a young woman diagnosed with ATS.
  • To highlight the importance of differentiating ATS from other connective tissue disorders like Marfan syndrome.
  • To emphasize the role of genetic testing and advanced imaging in diagnosing ATS.

Main Methods:

  • Clinical presentation review of a patient with suspected Marfan syndrome.
  • Genetic testing to identify the underlying cause of connective tissue abnormalities.
  • Magnetic Resonance (MR) Angiography to visualize arterial anatomy.

Main Results:

  • Genetic testing confirmed Arterial Tortuosity Syndrome (ATS) in a patient initially suspected of having Marfan syndrome.
  • MR Angiography revealed significantly tortuous arterial anatomy.
  • The patient presented with mitral regurgitation and tall stature.

Conclusions:

  • Accurate diagnosis of ATS is essential for appropriate patient management.
  • Differentiating ATS from other connective tissue disorders facilitates targeted screening and treatment strategies.
  • This case underscores the importance of considering ATS in patients with unexplained arterial tortuosity and connective tissue abnormalities.