P289 EYESHOT OF CARDIAC AMYLOIDOSIS CASES PRESENTED TO A CARDIOLOGY UO IN CENTRAL ITALY IN 2021

Abstract

Abstract Introduction ATTR–related cardiac amyloidosis, caused by the accumulation of insoluble fibrillar proteins derived from transthyretin misfolding, is an often underdiagnosed pathology, especially when neurological involvement is absent or minor. Transthoracic echocardiography represents the first fundamental step in the diagnostic process. Abstract During the year 2021, a total of 9 patients with an echocardiographic feature of hypertrophic heart disease suggestive of infiltrative pathology were referred to our Cardiology unit. Of these patients, 89% were male (8 out of 9), aged between 60 and 88 years (average age of 72 years). The clinic presentation was heart failure in 5 cases (55% of the total), arrhythmic storm in 1 case, history of amyloid polyneuropathy in 1 case and it was an occasional finding in 2 patients who required a cardiological evaluation for other reasons. The 12–lead ECG documented atrial fibrillation arrhythmia in 4 out of 9 cases (44%) and sinus rhythm in the remaining 5 cases (56%). Transthoracic echocardiography revealed left ventricular hypertrophy with granular sparkling aspect of the SIV in all patients, with indexes of global systolic function preserved in 4 out of 9 cases (44%), moderately reduced in 3 out of 9 cases (33%) and severely reduced in the remaining 2 cases (22%). Diastolic dysfunction was present in all patients, with a restrictive pattern in 4 of 9 cases (44%). Myocardial scintigraphy with DPD was performed in 7 patients, which confirmed the suspicion of aTTR amyloidosis in 6 cases (Perugini Score = 2), in the remaining 2 patients the diagnostic procedure was not performed due to severe comorbidities. At present, diagnostic confirmation of aTTR amyloidosis has been confirmed by biopsy in 2 patients; a patient‘s biopsy is currently under analysis; 1 patient is on Patisiran therapy. Conclusions Cardiac amyloidosis represents a frequent clinical condition especially in the elderly population. In the light of the most recent therapeutic strategies, a correct and early etiopathogenetic diagnosis is of fundamental importance.