Related Experiment Video
Updated: Jun 14, 2026
04:56
Modified Octopus Technique for Thoracoabdominal Aortic Aneurysm
Published on: August 1, 2025
Arterial tortuosity syndrome: A rare entity
Ashutosh Marwah1, Sejal Shah, P V Suresh
1Department of Pediatric Cardiology, Narayana Hrudayalaya Institute of Cardiac Sciences, Bangalore, India.
Annals of Pediatric Cardiology
|March 20, 2010
Summary
A 5-month-old infant with an incidental heart murmur was diagnosed with arterial tortuosity syndrome. This rare condition involves twisted pulmonary arteries, narrowed vessels, and inguinal hernias.
Area of Science:
- Pediatric Cardiology
- Medical Genetics
Background:
- Arterial Tortuosity Syndrome (ATS) is a rare genetic disorder affecting connective tissue, leading to abnormal widening and twisting of arteries.
- Diagnosis often relies on characteristic vascular and connective tissue abnormalities.
Observation:
- A 5-month-old infant presented with an incidentally detected heart murmur.
- Physical examination revealed bilateral inguinal hernias.
Findings:
- Imaging demonstrated tortuous pulmonary arteries with multiple peripheral pulmonary stenoses.
- The combination of findings strongly suggested Arterial Tortuosity Syndrome.
Implications:
- This case highlights the importance of considering ATS in infants with seemingly isolated vascular anomalies and hernias.
- Early diagnosis of ATS is crucial for appropriate management and monitoring of potential complications.
- Further research into the genetic basis and long-term outcomes of ATS is warranted.
Related Concept Videos
01:21Peripheral Arterial Disease II: Clinical Manifestations and Diagnostic Evaluation
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...
01:30Aneurysm I: Introduction
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...
01:21Aneurysm II: Clinical Manifestations and Diagnostic Studies
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...
01:30Peripheral Artery Disease I: Introduction
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...
01:11Overview of Systemic Arteries
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.
Systemic circulation is the part of the cardiovascular system that carries oxygenated blood away from the heart to the body's tissues and returns deoxygenated blood back to the heart.
Systemic circulation is the part of the cardiovascular system that carries oxygenated blood away from the heart to the body's tissues and returns deoxygenated blood back to the heart.
01:27Atherosclerosis II: Clinical Manifestations and Diagnostic Tests
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)...