Súlyos szívelégtelenség hátterében álló transthyretin-amyloidosis elkésett diagnózisa

Several heart muscle diseases can cause failure, the etiological diagnosis of which may serve basis targeted, tailored, effective personalized therapy. Such a disease is transthyretin amyloidosis (ATTR) an infiltrative disorder affecting most frequently and peripheral nerves, due to accumulation protein. Deposition mutant transthyretin, mutations in TTR gene encoding for occurs familial form (hATTR), while senile amyloidosis, wild-type accumulates (wtATTR). We report on 79-years-old male patient who presented 9 years before because novel onset atrial fibrillation. Echocardiography at that time showed severe concentric left ventricular hypertrophy progressed through years. Laboratory values displayed increased liver enzymes troponin T levels. He was hospitalized several times left- later right-sided with increasing tendency towards hypotension. At last admission he admitted us after suffering syncope home necessitating cardiopulmonary resuscitation. Transthoracic echocardiography severe, biventricular (LV wall thickness 22 mm, RV 12 mm), depressed LV function, apical sparing, low cardiac output. Taking voltage, seen ECG, other anamnestic data into consideration, suspicion ATTR raised. The died short observational period intractable failure. Autopsy histology revealed systemic predominantly interpreted as wtATTR according immunohistochemistry, negative sequencing lack monoclonal gammopathy. Our case illustrates importance diagnostic delay very encountered amyloidosis. Features includes multidisciplinary nature assessment, specialized modalities unique therapy call need centers.