Cell Free DNA in Cardiac Sarcoidosis

Summary

Sarcoidosis is a multisystem granulomatous disease of unknown cause that can affect any organ in the body, including the heart. Granulomatous myocarditis can lead to ventricular dysfunction and ventricular arrhythmias causing significant morbidity and mortality. Immunosuppressive therapy (IST) has been shown to reverse active myocarditis and preserve left ventricular (LV) function and in some cases improve LV function. In addition, IST can suppress arrhythmias that develop due to active myocarditis and prevent the formation of scar. The potential role of cardiac biomarkers, including brain natriuretic peptide (BNP), atrial natriuretic peptide (ANP), and cardiac troponins, in detecting active myocarditis is limited and studies have been disappointing. At present, there are no biomarkers to detect active myocarditis and the use of advanced imaging modalities (FDG-PET) for assessing and monitoring active myocarditis is not feasible or practical and is associate with high radiation exposure. As such, a biomarker that is reflective of active myocarditis and that is cardiac specific will assist physicians in assessing the presence of active myocarditis to guide therapeutic decisions and to assess response to therapy which can limit further cardiac damage. Cell free DNA (cfDNA) are fragments of genomic DNA that are released into the circulation from dying or damaged cells. It is a powerful diagnostic tool in cancer, transplant rejection and fetal medicine especially when the genomic source differs from the host. A novel technique that relies on tissue unique CpG methylation patterns can identify the tissue source of cell free DNA in an individual reflecting potential tissue injury. We will be conducting a pilot study to explore the utility of this diagnostic tool to identify granulomatous myocarditis in patients with sarcoidosis.

Eligibility

1. Sarcoidosis patients without evidence of active myocarditis:

   * Inclusion:

     * Diagnosis of sarcoidosis based on the ATS/ERS criteria.
     * Normal 12 lead ECG within the past one year.
     * Non-smoker.
     * No immunosuppressive therapy for at least one year.
   * Exclusion:

     * Known cardiac disease.
     * Active smoker.
     * On immunosuppressive therapy.
2. Sarcoidosis patients with evidence of active myocarditis:

   * Inclusion:

     * Diagnosis of sarcoidosis based on the ATS/ERS criteria.
     * Evidence of active myocarditis based on recent cMRI or cFDG-PET.
     * Non-smoker.
   * Exclusion:

     * Known cardiac disease other than sarcoidosis.
     * Active smoker.
     * On immunosuppressive therapy.
3. Acute ST elevation myocardial infarction (STEMI):

   * Inclusion:

     * Diagnosis STEMI based on 1mm ST elevation in 2 or more contiguous leads.
     * Symptom onset within 12 hours.
     * Undergoing cardiac intervention for acute coronary syndrome.
     * Able to consent for blood draw.
   * Exclusion:

     * Active smoker.
     * Hemodynamically unstable.
4. Healthy controls:

   * Inclusion:

     * No known cardiac disease.
     * No known cardiovascular risk factors: hypertension, diabetes.
     * Non-smoker.

Conditions5

Locations2 sites

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