A 32 years old nonsmoker male patient had a 2 years history of palpitations occurring in episodes, apparently unrelated to any triggering event. The episodes were sometimes accompanied by presyncope, and he presented repeatedly in emergency department during these events. The electrocardiograms were repeatedly showing ventricular arrhythmia, with frequent ventricular premature beats with monophocal pattern, sometimes organized in bigeminism or trigeminism (Figure 1). Heart ultrasound performed on these occasions did not show any change in ventricular function. He consulted a cardiologist specialized in heart rhythm disturbances, and received several antiarhythmic drugs (bisoprolol, sotalol, and propaphenone), which did not prevent the occurrence of new palpitations episodes, accompanied by the same lipotimic state. Continuous 24-h ECG recording showed the presence of premature ventricular beats also outside the clinically manifest episodes (Figure 2). The premature beats had the same morphology, mimicking a right bundle branch block.
A cardiac MRI with gadolinium enhancement was performed, which showed increased thickness of left ventricle during systole and contrast enhancement in the middle of cardiac wall at the base of the heart, and was considered by the radiologist who evaluated it initially as non-obstructive hypertrophic cardiomyopathy.
As the patient was not satisfied with the outcome of the investigations and the treatment, he sought a second opinion. On this occasion, the same cardiac MRI images were analyzed by a cardiologist specialized in MRI imaging of the heart. He interpreted the same images differently, describing the presence of focal edema at the base of the septum in T2 and granulomas with homogenous uptake of gadolinium at the base of the interventricular septum (Figure 3). He concluded that the image changes are highly suggestive for cardiac sarcoidosis. He also referred the patient to the pulmonology unit for further evaluation. The CT scan of the thorax showed multiple micronodules distributed mostly in the upper parts of the lungs, with a perilymphatic distribution, as well as moderately enlarged mediastinal lymph nodes (Figure 4). A bronchoscopy was performed, with a transbronchial biopsy of the mediastinal lymph nodes. The histology did not overtly confirm the presence of typical sarcoid granulomas, describing lymphocytic inflammation and some giant cells. Broncho-alveolar lavage proved a lymphocytic alveolitis with 34.4% lymphocytes in the BAL fluid, with normal CD4/CD8 ratio. The serum angiotensin-converting enzyme was highly elevated, three-fold the normal upper limit.
The patient did not complain of any respiratory symptoms, and the lung function tests were normal, including the diffusion capacity. He did not show signs of any other organ involvement: he had normal renal function, normal calcium level in the blood and urine, had no neurological symptoms, no eye ailment, no skin changes, no peripheral lymph node enlargement, and no joint pain.
He was diagnosed with sarcoidosis involving the lungs, mediastinal lymph nodes and heart. The diagnosis was considered as such even in the absence of a clear histologic confirmation. The BAL lymphocytosis was compatible with sarcoidosis. The normal CD4/CD8 ratio does not exclude the diagnosis, as it has a limited value. In this patient, even in the absence of a typical biopsy, applying the clinical sarcoidosis diagnosis score (SDS clinical) would have brought enough elements in favor of the diagnosis: highly probable: HRCT imaging changes, at least probable: BAL lymphocytic alveolitis, TBNA showing lymphoid aggregates and giant cells, spontaneous ventricular tachyarrhythmia in the absence of other risk factor, delayed enhancement on cardiac MRI.
Oral corticosteroid treatment was started at a dose of 32 mg of methylprednisolone per day, tapered to 8 mg per day over 6 months. Low dose treatment was continued up to 36 months. The clinical improvement was noticed during the first month of treatment. The frequency of the palpitation episodes decreased, and the events were no longer accompanied by presyncope. The arrhythmic events disappeared completely during the first year of treatment. Cardiological examinations and chest ultrasound showed no impairment of cardiac function. The corticosteroid treatment was well tolerated, with minimal muscle weakness during the first months of treatment.
This case illustrates the difficulty of diagnosis of cardiac sarcoidosis in a patient that is not previously diagnosed with the disease, based on other organ involvements. Our patient had highly suggestive changes on the HRCT of the lungs, but this was not performed previously as he did not complain of any respiratory symptoms. The frequent visits to the emergency department and the occurrence of severe arrhythmia in a young patient with no risk factors and no other heart problems should have triggered the suspicion of a cardiac sarcoidosis earlier. The patient displayed the late gadolinium enhancement on cardiac MRI, which is considered a risk factor for severe outcome, and had potentially severe ventricular arrhythmia, but fortunately the function of the ventricle was not impaired and responded well to corticosteroid treatment.
Cardiac sarcoidosis can represent a life-threatening condition, the risk being augmented by the lack of suspicion of this disease in patients with no previous diagnosis of sarcoidosis.
(A-D) HRCT of the lungs: multiple bilateral micronodules predominant in the upper lobes, increased infracarinal lymph nodes.