P419 CARDIAC SARCOIDOSIS IN A CARRIER OF TTR GENE MUTATION

Abstract A 39–year–old man came to our attention after being identified as a carrier of the mutation lle68Leu in the transthyretin (TTR) gene, following his father’s diagnosis of cardiac amyloidosis. From then on, the patient underwent periodical follow–up for early detection of target organs involvement, with normal echocardiographic results of blood test and echocardiography. At the age of 41, he was hospitalized after a transient loss of consciousness (TLS) episode while riding a bicycle. The echocardiogram showed normal systolic function with an akinetic basal septum. A coronary angiogram excluded the presence of coronary artery disease. One year later, ECG abnormalities developed, with a new–onset right bundle branch block and posterior fascicular block. The echocardiogram showed a dilated cardiomyopathy with severe left systolic function impairment (ejection fraction 30%). SPECT with bisphosphonate ruled out cardiac amyloidosis. Cardiac MRI was significant for patchy areas of late gadolinium enhancement in the left ventricle. Before the following cardiological evaluation for a possible ICD implantation the patient was again hospitalized after a resuscitated cardiac arrest.Thoracic CT, performed in the emergency department, was significant for hilar lymphadenopathies and pulmonary nodules highly suggestive for sarcoidosis. FDG–PET showed multiorgan phlogistic–infiltrative involvement, including the myocardium. A subsequent hepatic CT–guided biopsy eventually confirmed the diagnosis of sarcoidosis. In secondary prevention, the patient underwent ICD implantation but continued to experience arrhythmic events.