ALL THE ROADS LEAD TO THE MYSTERIOUS DISEASE

Abstract

Abstract A 58–year–old man with familiarity for sudden cardiac death was accepted to the hospital for dyspnea. Two years before he underwent cardiac angiography which showed a significative lesion of the descending artery which was treated with the placement of a drug eluting stent. For the appearance of an atrio–ventricular block 2:1, a permanent pacemaker was implanted. A transthoracic echocardiogram demonstrated: mildly dilated left ventricle with a reduced global systolic function (calculated ejection fraction was of 25%). Computed tomography with intravenous contrast of the chest showed upper, mid and lower multifocal nodularity with irregular margins with predominantly peri –bronchial distribution. The patient underwent bronchoscopy with endotracheal ultrasound and multiple transbronchial biopsies. Bronchoalveolar lavage (BAL) was negative for fungi infections, bacteria (including Mycobacterium Complex), and malignant cells. Endobronchial biopsies revealed non–necrotizing, well–formed granulomas embedded in dense hyaline sclerosis. Also the ratio of CD4+/CD8+ cells was within limits. FDG PET–TC scan showed: multiple enhancing areas in the lungs and lymph nodes probably of an inflammatory nature and therefore compatible with pulmonary sarcoidosis. A high dosage cortisone therapy was started, the patient was transferred to undergo endomyocardial biopsy, subsequently tested positive for multisystemic disease. Sarcoidosis is a rare disease with extremely heterogeneous clinical presentations. Actually, it is characterized by non–necrotizing granulomas, aggregates of epithelial cells, macrophages, multinucleated giant cells and CD4+ T lymphocytes, which infiltrate different tissues. When symptomatic, cardiac sarcoidosis includes conduction abnormalities, arrhythmias and ventricle dilation with hearth failure. Rhythm disorders, which rang from first to third degree, are the most common manifestation together with atrial fibrillation and ventricular tachyarrhythmias which can be explained with reentrant mechanisms from the granulomatous scar. Both atria–ventricular blocks and history of ventricular tachycardia elevate the risk for sudden cardiac death, which may be the first and unique manifestation of the disease. If myocardial involvement is extensive, cardiac sarcoidosis can present with hearth failure.