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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: Jun 4, 2026

A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
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Marfan's syndrome: an overview.

Shi-Min Yuan1, Hua Jing

  • 1Department of Cardiothoracic Surgery, Jinling Hospital, School of Clinical Medicine, Nanjing University, Jiangsu Province, Republic of China.

Sao Paulo Medical Journal = Revista Paulista De Medicina
|February 11, 2011
PubMed
Summary
This summary is machine-generated.

Marfan syndrome is a rare genetic connective tissue disorder affecting multiple body systems. Diagnosis involves clinical assessment and family history, with cardiovascular issues like aortic dilation being primary concerns.

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Area of Science:

  • Genetics
  • Cardiology
  • Rheumatology

Background:

  • Marfan syndrome is an autosomal dominant hereditary connective tissue disorder with a prevalence of 1 in 10,000 to 20,000 individuals.
  • It impacts multiple organ systems, with cardiovascular manifestations such as aortic root dilation and mitral valve prolapse being significant concerns.

Purpose of the Study:

  • To provide a comprehensive overview of Marfan syndrome, including its diagnosis, pathogenesis, and management.
  • To highlight the role of fibrillin-1 gene mutations in the disorder's development.

Main Methods:

  • Diagnosis is based on the Ghent nosology, incorporating major and minor clinical findings across organ systems and family history.
  • Review of current understanding of pathogenesis and treatment strategies.

Main Results:

  • Aortic root dilation and mitral valve prolapse are key cardiovascular presentations.
  • Fibrillin-1 gene mutations are implicated in the pathogenesis, classifying Marfan syndrome as a fibrillinopathy.
  • Treatment strategies include medications like beta-blockers and angiotensin II-receptor blockers to manage aortic dilation, alongside prophylactic aortic surgery.

Conclusions:

  • Marfan syndrome is a complex genetic disorder requiring careful diagnosis and management.
  • Therapeutic interventions aim to slow disease progression and prevent life-threatening complications.
  • Further research into pathogenesis may reveal novel therapeutic targets.