CONGRESS ABSTRACT

A 56-year-old Caucasian woman presented to the ED with signs and symptoms of ADHF. Her cardiac history was unremarkable except for a case of sudden cardiac death in her mother. Her past medical history included paresthesias, neurogenic pain, and diarrhea. ECG showed sinus rhythm and signs of left ventricular hypertrophy (Peguero-Lo Presti with SD + SV4 = 40 mm). Echocardiogram revealed severely hypertrophic left ventricle (IVSd 18 mm) with moderately reduced systolic function (EF 45%), right ventricular hypertrophy with systolic longitudinal and radial dysfunction, moderate mitral and tricuspid regurgitation. The patient was admitted to the Cardiac Intensive Care Unit. Coronary angiography showed no significant stenosis in the epicardial coronary circulation. Blood chemistry tests revealed no monoclonal component, a normal serum K/L ratio, and absence of proteinuria. In agreement with a neurologist, there was a suspicion of amyloidosis with neuropathy and severe cardiac involvement. Cardiac amyloidosis was confirmed by endomyocardial biopsy, and genetic testing identified in the TTR gene, transcript NM_000371.4, a pathogenic c.325G>C variant resulting in a p.Glu109Gln amino acid substitution (missense mutation). The patient was subsequently discharged with appropriate heart failure therapy and tafamidis. Unfortunately, one year later, the patient suffered a fatal ischemic stroke. Genetic testing of her daughter revealed the same mutation. She had no morpho-functional cardiovascular abnormalities but only paresthesias and episodes of diarrhea. and was referred to the neurology colleagues. Transthyretin (ATTR) amyloidosis with polyneuropathy (PN) is a progressive systemic disease in which the transthyretin protein misfolds to form amyloid fibrils deposited in the endoneurium and myocardium. ATTR with familial PN is the most severe hereditary polyneuropathy with adult onset (>50 years). It derives from a hereditary mutation in the TTR gene and can involve the peripheral nervous system and the heart. It involves length-dependent small fibres neuropathy with autonomic dysfunction, sensory disturbances, weight loss, cardiac rhythm disturbances, vitreous opacities, gastrointestinal disorders, and renal abnormalities.In our case, there is a rare pathogenic mutation with few cases described in the literature.