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Cardiac Sarcoidosis

Making the Diagnosis of Cardiac Sarcoidosis in a Patient with Progressive Fatigue

Case Presentation - June 2010

Andrew N. Rassi, MD

A previously healthy 56 year old Caucasian male presents to clinic for evaluation of progressive decrease in exercise tolerance over the previous four months. At baseline, he is very active. He says that he is still able to play hockey, swim, and walk three miles per day but is concerned that he can’t compete at the same level and is getting short of breath more easily – “I need a line change in hockey sooner than I used to.”

Past Medical History

He had previously completed treatment with warfarin for a DVT/PE three years prior to presentation.

Initial physical exam

His vital signs on presentation to his local doctor were a temperature of 37° C, heart rate 81 beats per minute, blood pressure 125/81mmHg, breathing 14 times per minute, with oxygen saturation of 98% on room air. His exam showed some trace bilateral lower extremity edema with a jugular venous pressure of about 8cm H20 and distant heart sounds. The remainder of his exam was unremarkable.

Diagnosis/Treatment prior to presentation at Cleveland Clinic

An EKG was obtained which demonstrated a first degree AV block. A chest x-ray did not demonstrate any pulmonary edema, effusion or consolidation. Basic laboratory testing demonstrated normal kidney function and electrolytes. A CTA of the chest ruled out the presence of a pulmonary embolism. A BNP level was mildly elevated at 213. An echocardiogram was obtained which revealed an ejection fraction of 40% with moderate upper septal hypertrophy, and mild mitral and tricuspid regurgitation. A cardiac catheterization demonstrated angiographically normal coronary arteries. A holter monitor was obtained which revealed occasional PVC’s and one run of eight beats of NSVT. He was treated for non-ischemic cadiomyopathy and initiated on a beta blocker, ace inhibitor, and a diuretic. His lower extremity edema was controlled with the diuretic however his symptoms of limited functional capacity persisted and he was referred for further workup.

Diagnosis/Treatment upon presentation at Cleveland Clinic

Click on image for larger view

Figure 1

He continued on his medical heart failure regimen for three months prior to evaluation at Cleveland Clinic. An EKG was obtained which demonstrated sinus rhythm with a first degree AV block and premature ventricular complexes, right bundle branch block, inferior myocardial infarction and age indeterminate anterolateral myocardial infarction (Figure 1). An echocardiogram was obtained to monitor his response to therapy (see images below). The left ventricle was noted to have moderate upper septal hypertrophy with moderately decreased systolic function (ejection fraction of 35%). The right ventricle was noted to have moderate dilation with moderately decreased systolic function. There was mild mitral and tricuspid regurgitation with an RVSP of 28mmHg.

His medical heart failure regimen was titrated to maximize his dosage of beta blocker and ace inhibitor and the plan was to repeat an echocardiogram in six months to monitor his response. Additionally, he was referred to the electrophysiology department for consideration of an implantable cardiac defibrillator (ICD).

Figure 2

Further evaluation to investigate the etiology of his cardiomyopathy with consideration for an infiltrative process included cardiac magnetic resonance imaging (MRI), which corroborated the findings of left ventricular systolic dysfunction as well as upper septal hypertrophy. The right ventricle was noted to be moderately dilated, with severely depressed systolic function. There was mention of abnormal septal motion with septal flattening suggesting right ventricular pressure and volume overload (see images below). The MRI also revealed diffusely increased myocardial signal on T2 weighted images of the mid and apical segments as compared to the more basal segments involving both the left and right ventricles. These abnormal signals characteristics are paralleled on delayed-enhancement imaging which reveals diffuse myocardial enhancement. These findings were suspicious for cardiac amyloidosis (Figure 2).

Figure 3

A right heart catheterization was performed which revealed a mean right atrial pressure of 27mmHg, a right ventricular pressure of 34/24mmHg, a pulmonary artery pressure of 34/24mmHg, a mean pulmonary capillary wedge pressure of 21mmHg. Cardiac output and cardiac index were 5.27 L/min and 2.51 L/min/m2 respectively by thermodilution method and 3.71 L/min and 1.76 L/min/m2 by Fick method. The mixed venous oxygen was 56.8% and a systemic vascular resistance was 906 dyn *sec/cm5. Based on this hemodynamic data, the diuretic regimen was increased. An endomyocardial biopsy was obtained which revealed non-caseating granulomas with features consistent with cardiac sarcoidosis (Figure 3).

The patient was continued on his medical heart failure regimen with plans to start Prednisone for the sarcoidosis. He was referred to the pulmonology department for further workup to screen for extra-cardiac involvement of his sarcoidosis. His response to therapy is being monitored with serial echocardiograms as well as 18F-fluoro-2-deoxy-D-glucose positron emission tomography (FDG PET) scans, which at baseline have demonstrated resting perfusion defects with evidence of FDG uptake. Repeat Holter monitor testing suggest that he was having much more frequent ventricular ectopy as well as short runs of non-sustained ventricular tachycardia. An ICD was placed for primary prevention of sudden cardiac death.

Discussion

We present a case of a patient with newly diagnosed cardiac sarcoidosis who presents initially with subtle changes in his very active lifestyle. What makes this diagnosis difficult is moving beyond the initial diagnosis of non-ischemic cardiomyopathy and further evaluating for the cause of the cardiomyopathy. Factors that suggested an infiltrative process included his young age as well as multiple ischemic and conduction abnormalities on EKG in the absence of coronary disease. The major implications of making this diagnosis are a change in prognosis as well as a shift in treatment strategy.

Sarcoidosis is a multi-system disease characterized by the formation of granulomas in various tissues throughout the body. The annual incidence of sarcoidosis in the United States has been estimated at 10.9 per 100,000 in whites and 35.5 per 100,000 in African Americans. In Europe, however, Scandinavians have the highest incidence rates at 50 to 60 cases per 100,000(1). Cardiac involvement is considered rare and occurs in about 2% of cases. However that figure may be higher as some cases of cardiac sarcoidosis are an asymptomatic accompanying feature of extra-cardiac involvement(2). Cardiac involvement can be present in the absence of any abnormality on standard cardiac testing.

Cardiac MRI is a useful tool in evaluating for an underlying disorder when a diagnosis of non-ischemic cardiomyopathy is made(3). MRI finding are suggestive of an infiltrative process should prompt an endomyocardial biopsy to verify the diagnosis. The finding of non-caseating granulomas on endomyocardial biopsy is virtually pathognomonic for the diagnosis of cardiac sarcoidosis however endomyocardial biopsy may frequently be negative as granulomas can be intermittently dispersed throughout the myocardium(4).

These granulomas cause inflammation and subsequently scar, which are believed to be the source of ventricular arrhythmias which are frequently seen in sarcoidosis and often cause sudden cardiac death. For this reason, many advocate for an aggressive approach in placing an ICD, especially if a pacemaker is already indicated given conduction abnormalities(1). Randomized controlled trials are lacking in treatment strategies, however, high dose steroids are the mainstay of treatment and are meant to reduce the inflammatory reaction caused by the granulomas and reduce scarring(5). Ultimately, heart transplantation is also a consideration.

Comment by Randall Starling, MD, MPH: MRI is a valuable too used to evaluate patients with non-ischemic cardiomyopathy. Abnormal findings on cardiac MRI can direct the need for endomyocardial biopsy which is only used in select cases depending on clinical features and data(6). In this case of non-ischemic cardiomyopathy the abnormal MRI led to a heart biopsy that yielded a definitive diagnosis of cardiac sarcoid. After further evaluation including a thoracic and total body PET we initiated treatment with immunosuppression for sarcoid. This case demonstrates the important role of cardiac MRI in leading us to a definitive diagnosis of cardiac sarcoid. Cardiac MRI is considered an essential component when evaluating patients with nonischemic cardiomyopathy.

References
  1. Kim JS, Judson MA, Donnino R, et al: Cardiac Sarcoidosis. Am Heart J 2009;157:9-21.
  2. Dubrey SW, Falk RH: Diagnosis and Management of Cardiac Sarcoidosis. Progress in Cardiovascular Disease 2010;52:336-346.
  3. Steel KE, Kwong RY: Application of Cardiac Magnetic Resonance Imaging in Cardiomyopathy. Current Heart Failure Reports 2008;5:128-135.
  4. Ardehali H, Howard DL, Hariri A, et al: A positive endomyocardial biopsy result for sarcoid is associated with poor prognosis in patients with initially unexplained cardiomyopathy. Am Heart J 2005;150:459-463.
  5. Sugisaki K, Yamaguchi T, Nagai S, et al: Clinical characteristics of 195 Japanese sarcoidosis patients treated with oral corticosteroids. Sarcoidosis Vasc Diffuse Lung Dis 2003;20:222-226.
  6. Cooper LT, Baughman KL, Feldman AM, et al. The role of endomyocardial biopsy in the management of cardiovascular disease: a scientific statement from the American Heart Association; American College of Cardiology; European Society of Cardiology. Circulation. 2007 Nov 6;116(19):2216-33.

Reviewed: 11/13

Non-critical demographic information has been changed to protect the anonymity of the individual and no association with any actual patient is intended or should be inferred.

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