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Restrictive cardiomyopathy (RCM) is a rare heart muscle disease characterized by impaired ventricular filling due to stiffened ventricular walls, leading to significant diastolic dysfunction.EtiologyRestrictive cardiomyopathy can arise from both inherited and acquired diseases, many of which are systemic. It is categorized into four main types: infiltrative, storage, non-infiltrative, and endomyocardial diseases.Infiltrative diseases, such as amyloidosis, lead to RCM by depositing amyloid...
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[Carney triad].

L Fiala, I Kocáková, R Šimůnek

    Rozhledy V Chirurgii : Mesicnik Ceskoslovenske Chirurgicke Spolecnosti
    |September 22, 2017
    PubMed
    Summary
    This summary is machine-generated.

    Carney triad, a rare condition involving gastric tumors, pulmonary chondroma, and paraganglioma, was confirmed in a patient through molecular analysis. This case highlights diagnostic challenges and the importance of genetic testing for accurate diagnosis.

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    Area of Science:

    • Oncology
    • Genetics
    • Pathology

    Background:

    • Carney triad is a rare genetic disorder characterized by the synchronous or metachronous occurrence of gastric gastrointestinal stromal tumors (GIST), pulmonary chondroma, and extra-adrenal paraganglioma.
    • While all three components are rare, the combination of gastric and pulmonary tumors is most common, with only 2% of patients presenting with all three at initial diagnosis.

    Observation:

    • A 57-year-old female presented with multiple tumors, including gastric, retroperitoneal, and liver masses, and a history of pulmonary lesions.
    • Initial diagnosis of the retroperitoneal mass revealed pheochromocytoma, and the gastric tumor was identified as a low-risk GIST with liver metastases.

    Findings:

    • Histopathological examination and molecular analysis, including SDHB, SDHC, and SDHD gene testing, confirmed the diagnosis of Carney triad.
    • The patient's previously unclear pulmonary lesion was identified as a benign chondroma, and the retroperitoneal tumor was confirmed as paraganglioma.

    Implications:

    • This case underscores the diagnostic complexities in differentiating Carney triad from similar syndromes like Carney-Stratakis syndrome.
    • Molecular genetic analysis is crucial for accurate diagnosis and management of Carney triad, potentially improving patient outcomes.