Systemic amyloidosis presenting as constrictive pericarditis in a young adult

Pericardial amyloidosis without myocardial involvement is a rare event, even rarer when it affects an individual in their second decade of life [1]. In general, systemic amyloidosis (SA) refers to a group of disease processes involving abnormal protein deposition that usually affects individuals in the sixth decade of life [2]. When there is cardiac involvement, the typical presentation is that of a right-sided heart failure due to a restrictive cardiomyopathy, with infiltration of the myocardium by amyloid protein. Pericardial involvement, when present, is mostly an extension of the myocardial process [1]. We present an exceptionally rare case of SA presenting as congestive heart failure due to pericardial amyloidosis without gross myocardial involvement in a 21-year-old male. Although both constrictive pericarditis and restrictive cardiomyopathy have similar clinical presentations, timely differentiation is necessary since both conditions require different therapeutic approaches [3]. A 21-year-old Caucasian male presented to our center in 6/2010 due to generalized swelling associated with fatigue, malaise and shortness of breath. The patient had a past medical history of recurrent pneumonia associated with pleural effusions for the past two years, beginning in 7/2008. During the past two years, every time the patient had an episode of pneumonia and shortness of breath, he would go to a regional hospital where his pleural effusion would be drained, providing symptomatic relief. During this time period, there was a limited effort to identify the etiology of his recurrent pneumonia. In 4/2010, the patient was diagnosed with an empyema, prompting a thoracoscopy and lung decortication. In 6/2010, his symptoms recurred and this time the patient presented to our facility. On physical examination, pallor was present and his vital signs showedmild tachycardia and pronounced tachypnea. On auscultation, breath sounds were decreased bilaterally in both basilar regions. There was no wheezing present, but mild rales were appreciated throughout both lung fields. Pitting edema involving the lower limbs, sacral region and abdominal wall was observed as well. Initial labs demonstrated profound hypoalbuminemia, evaluation by nephrology ruled out renal origin. Gastroenterology was consulted, and a colonoscopy, esophagogastroduodenoscopy (EGD) and biopsies of the liver and intestines were performed. The colonoscopy and EGD revealed grossly normal appearing mucosa; however, the biopsies were positive using Congo red stain. The samples demonstrated sinusoidal apple green birefringency under polarized light, consistent with amyloidosis. Chest CT scan demonstrated several enlarged lymph nodes; this finding prompted a workup by oncology. Lymphoma was ruled out after flow cytometry and other hematologic studies tested normal. Further workup included a venogram and a trans-abdominal ultrasound of the inferior vena cava and hepatic veins, which showed marked venous dilation (Fig. 1). Cardiac catheterization demonstrated ventricular interdependence and equalization of end diastolic pressures throughout the cardiac chambers with less than 5 mm Hg variation, suggesting the possibility of constrictive pericarditis. In addition to those findings, there was significant elevation of the right atrial pressure, with an elevated backpressure gradient in the jugular veins, inferior vena cava and hepatic veins. CT chest angiography showed marked, loculated right pleural thickening and a free left pleural effusion associated with basal lobe atelectasis. The heart was at the upper limit of normal in size and only slight pericardial thickening, measuring approximately 4.8 mm, was appreciated in the anterior side. Electrocardiography did not show microvoltage or any sign of myocardial involvement. He was empirically started on IV furosemide and potassium chloride with little clinical improvement. Doppler echocardiography showed that both ventricles were normal in size, along with a normal left ventricular wall thickness and an ejection fraction of 55–60%. The inferior vena cava was severely dilated with no inspiratory collapse. The study also demonstrated a small pericardial effusion and a large left pleural effusion. AnMRI of the heart (Fig. 2) showed normal biventricular function in the presence of several findings related to the pericardium. The study demonstrated borderline thickening of the pericardium, pericardial enhancement, tubular appearance of the ventricles and increased ventricular interdependence, suggestive of pericardial constriction. On the basis of clinical judgment coupled with the results of the patient's workup, the patient underwent a median sternotomy and International Journal of Cardiology 153 (2011) e7–e9