Final Diagnosis -- Sarcoidosis




Sarcoidosis is a multisystem inflammatory disease. It frequently manifests as noncaseating granulomas, predominantly in the lungs and intrathoracic lymph nodes. The presentation and sequelae of sarcoidosis vary significantly between individuals. Approximately 50% of patients present with pulmonary complaints ranging from dyspnea to cough or chest pain, 45% present with systemic complaints such as anorexia and fevers, and the remaining 5% are asymptomatic.1 The classic pulmonary, ocular, and dermatologic manifestations of sarcoidosis are the disease manifestations which commonly come to mind when thinking of this entity. However, up to 5% of patients with sarcoidosis can have cardiac manifestations, which can range from relatively benign incidental findings to life threatening depending on the location and extent of granulomatous inflammation.

The most common sequelae of cardiac sarcoidosis is complete heart block. Patients may initially develop first-degree heart block due to lesions in the atrioventricular node or bundle of His, but these can progress to complete heart block, which often manifests as episodes of syncope.2, 3 Histologic evaluation of the myocardium, which can be done via myocardial biopsy or seen on autopsy, demonstrates noncaseating granulomas.

Given the patient's presentation with multiple witnessed episodes of syncope, EKG findings of both right bundle branch and left anterior fascicular block, and histologic evaluation of the myocardium demonstrating noncaseating granulomas near the AV nodal tissue, complete heart block secondary to sarcoidosis, combined with the patient's severe preexisting atherosclerotic cardiovascular disease, are most likely responsible for his cause of death.

The second most common cardiac manifestation of sarcoidosis is ventricular arrhythmias. These can manifest as sustained or intermittent premature ventricular beats or as ventricular tachycardia. Granulomas within the myocardium become foci for abnormal automaticity. They can also disrupt ventricular activation and recovery, which results in re-entrant arrhythmias. In addition to conduction defects, cardiac sarcoidosis can also result in cardiomyopathy and congestive heart failure.

Sudden cardiac death, due to either conduction blocks or ventricular tachyarrhythmias, is a common cause of death in patients with cardiac sarcoidosis.4, 5 It is important to assess patients with known systemic sarcoidosis for EKG changes suggestive of arrhythmias or conduction abnormalities.

The current guidelines developed in 2006 for diagnosing cardiac sarcoidosis require either:

  1. Histologic diagnosis of sarcoidosis on myocardial biopsy and histologic or clinical diagnosis of extracardiac sarcoidosis6
  2. Histologic or clinical diagnosis of extracardiac sarcoidosis plus three major criteria or one major criterion and three minor criteria6
    1. Major criteria: advanced atrioventricular block, basal thinning of the interventricular septum, or left ventricular ejection fraction <50 percent
    2. Minor criteria: abnormal EKG findings (right bundle branch block, premature ventricular complexes, ventricular tachycardia, axis deviation or abnormal Q waves), abnormal echocardiogram (ventricular aneurysm or wall thickening or wall motion abnormalities), or perfusion defects on thallium or technetium scan

Interventions for cardiac sarcoidosis include aggressive control of inflammation to prevent further fibrosis in the myocardium. Corticosteroids have been used empirically to prevent further granulomatous inflammation of the myocardium, and are still used as the primary treatment for cardiac sarcoidosis. In addition to immunosuppression, intracardiac devices and pacemakers have been used to combat the potential for sudden death due to ventricular tachyarrhythmias or conduction block, as these account for more than half of the deaths in cardiac sarcoidosis.7

Although the prognosis for all patients with cardiac sarcoidosis is not well-defined, patients who have symptomatic cardiac manifestations of their disease in addition to pulmonary findings have increased morbidity and mortality and require aggressive treatment of their sarcoidosis.


  1. Baughman RP, Teirstein AS, Judson MA, et al. Clinical characteristics of patients in a case control study of sarcoidosis. Am J Respir Crit Care Med. 2001;164(10 Pt 1):1885-9.
  2. Chapelon-abric C, De zuttere D, Duhaut P, et al. Cardiac sarcoidosis: a retrospective study of 41 cases. Medicine (Baltimore). 2004;83(6):315-34.
  3. Yoshida Y, Morimoto S, Hiramitsu S, Tsuboi N, Hirayama H, Itoh T. Incidence of cardiac sarcoidosis in Japanese patients with high-degree atrioventricular block. Am Heart J. 1997;134(3):382-6.
  4. Schaedel H, Kirsten D, Schmidt A, Schmidt H, Strauss HJ. Sarcoid heart disease--results of follow-up investigations. Eur Heart J. 1991;12 Suppl D:26-7.
  5. Judson MA, Baughman RP, Teirstein AS, Terrin ML, Yeager H. Defining organ involvement in sarcoidosis: the ACCESS proposed instrument. ACCESS Research Group. A Case Control Etiologic Study of Sarcoidosis. Sarcoidosis Vasc Diffuse Lung Dis. 1999;16(1):75-86.
  6. Soejima K, Yada H. The work-up and management of patients with apparent or subclinical cardiac sarcoidosis: with emphasis on the associated heart rhythm abnormalities. J Cardiovasc Electrophysiol. 2009;20(5):578-83.
  7. Winters SL, Cohen M, Greenberg S, et al. Sustained ventricular tachycardia associated with sarcoidosis: assessment of the underlying cardiac anatomy and the prospective utility of programmed ventricular stimulation, drug therapy and an implantable antitachycardia device. J Am Coll Cardiol. 1991;18(4):937-43.

Contributed by Michelle Stram, MD and Jeffrey Nine, MD

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