P349 EARLY DIAGNOSIS OF HEREDITARY CARDIAC AMYLOIDOSIS(ATTRV) IN A CARRIER: WHEN IS ENDOMYOCARDIAL BIOPSY INDICATED?

Abstract Background Hereditary transthyretin amyloidosis (ATTRv) is a rare, adult–onset, autosomal dominant genetic disorder caused by mutations in the TTR gene. The growing availability of effective therapies determining greater benefit earlier they start, highlights importance identifying cardiac involvement even absence left ventricular hypertrophy. Clinical Case A 58–year–old man came to our observation for exertional dyspnea and received diagnosis hereditary (Val142Leu). Family screening led identification 56–year–old brother who was carrier same mutation. This patient symptomatic palpitations. Blood tests, including Troponin NTproBNP, were normal. ECG showed sinus rhythm, with normal atrioventricular intraventricular conduction but frequent premature contractions. Transthoracic echocardiogram normal, strain rate evaluation. In order identify early involvement, underwent magnetic resonance imaging biphosphonate scintigraphy that negative involvement. Neurological examination initial bilateral carpal tunnel syndrome. Due presence contractions, an endomyocardial biopsy which unpredictably slight focal positivity Congo Red staining, immunohistochemistry confirmed transthyretin. Therefore, started therapy Tafamidis. At 12–month follow up still as well thickness resulted within limits. Conclusion case shows ATTR mutation carriers, can be present hypertrophy positive bisphosphonate scintigraphy. clinical symptoms and/or suspicious signs disease, such arrhythmias, may indicated start disease modifying earlier.