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Updated: Sep 27, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Epidemiology, Pathogenesis, and Diagnosis of Cardiac Sarcoidosis

Sheetal V Mathai1, Snehal Patel2, Ulrich P Jorde2

  • 1Jacobi Medical Center and Albert Einstein College of Medicine, Bronx, New York, US.

Methodist Debakey Cardiovascular Journal
|April 13, 2022
PubMed

Insights

Cardiac sarcoidosis (CS) is an underdiagnosed heart condition causing serious illness and death. Early diagnosis requires high clinical suspicion and multimodality imaging due to challenging diagnostic methods.

Area of Science:

  • Cardiology
  • Immunology
  • Pathology

Background:

  • Cardiac sarcoidosis (CS) is a significant cause of morbidity and mortality.
  • It is a form of granulomatous myocarditis that is often underdiagnosed.
  • Clinical manifestations vary widely, from asymptomatic findings to severe heart failure or sudden cardiac death.

Purpose of the Study:

  • To review the epidemiology, pathogenesis, clinical features, and diagnosis of cardiac sarcoidosis.
  • To highlight the challenges in diagnosing CS.
  • To emphasize the role of multimodality imaging in diagnosis and treatment.

Main Methods:

  • Literature review of epidemiology, pathogenesis, clinical presentation, and diagnostic strategies for CS.
  • Discussion of current diagnostic criteria and imaging modalities.
  • Synthesis of information on clinical suspicion and treatment guidance.

Main Results:

  • CS is underdiagnosed, leading to significant adverse outcomes.
  • No single diagnostic method is fully sensitive or specific for CS.
  • Multimodality imaging is crucial for diagnosis and management.

Conclusions:

  • Elevated clinical suspicion is paramount for diagnosing CS.
  • Integrated diagnostic approaches, including multimodality imaging, are essential.
  • Further research is needed to improve diagnostic accuracy and patient outcomes for this enigmatic disease.

Keywords:
cardiac FDG-PETcardiac sarcoidosisgranulomatous myocarditisinflammatory cardiomyopathy

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