Súlyos szívelégtelenség hátterében álló transthyretin-amyloidosis elkésett diagnózisa

Abstract

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