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Cardiac Sarcoidosis and a Likely Pathogenic TTN Variant in a Patient Presenting With Ventricular Tachycardia

Zain M Virk1, T Lee Richardson1, Joseph F Nowatzke1

  • 1Vanderbilt University Medical Center, Department of Medicine Division of Cardiology, Nashville, Tennessee, USA.

JACC. Case Reports
|July 3, 2023
PubMed

Insights

Rare TTN gene variants cause early-onset heart conditions. This case highlights a patient with a TTN variant and underdiagnosed cardiac sarcoidosis, emphasizing the link between genetic factors and this heart disease.

Area of Science:

  • Cardiology
  • Genetics
  • Immunology

Background:

  • Rare variants in the Titin (TTN) gene are a leading cause of inherited early-onset atrial fibrillation and dilated cardiomyopathy.
  • Cardiac sarcoidosis is frequently underdiagnosed and can manifest with ventricular arrhythmias.

Observation:

  • This report details a patient presenting with clinical features suggestive of cardiac sarcoidosis.
  • The patient was found to have a likely pathogenic TTN variant.

Findings:

  • The co-occurrence of a likely pathogenic TTN variant and cardiac sarcoidosis in this patient.
  • This case underscores the diagnostic challenges and potential genetic underpinnings of cardiac sarcoidosis.

Implications:

  • Highlights the importance of considering genetic testing in patients with unexplained cardiomyopathies and arrhythmias.
  • Suggests a potential genetic predisposition or link between TTN variants and cardiac sarcoidosis development.
  • Emphasizes the need for increased awareness and improved diagnostic strategies for cardiac sarcoidosis.

Keywords:
atrial fibrillationcardiomyopathygenetic disordersimagingventricular tachycardia

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