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[Marfan's syndrome].

M Martelli, A Saponaro

    Minerva Medica
    |October 27, 1983
    PubMed
    Summary
    This summary is machine-generated.

    Marfan disease is a genetic disorder affecting connective tissue, leading to skeletal, ocular, cardiac, and respiratory issues. Diagnosis relies on recognizing typical lesions due to unknown biochemical errors.

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    Area of Science:

    • Genetics and Molecular Biology
    • Cardiology
    • Pulmonology

    Context:

    • Marfan disease is a hereditary connective tissue disorder.
    • It results from a congenital disorder of fibrous support proteins like collagen and elastin.
    • Sporadic forms with uncertain interpretation also exist.

    Purpose:

    • To discuss the diagnosis and management of Marfan disease.
    • To highlight the importance of recognizing systemic and less common manifestations.
    • To review current therapeutic approaches.

    Summary:

    • Marfan disease presents with diverse skeletal, ocular, cardiac, and respiratory alterations.
    • Diagnosis is clinical, based on characteristic lesions, as biochemical tests are lacking.
    • Advanced cardiac assessment may reveal reduced ventricular compliance and myocardial fibrosis.

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  • Prognosis is influenced by the extent of organ damage, particularly cardiac involvement.
  • Impact:

    • Emphasizes the need for thorough clinical examination to detect all affected systems.
    • Underscores the significance of cardiac and respiratory involvement in prognosis.
    • Provides an overview of current management strategies for Marfan disease.