Background
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Cardiac involvement is common in hereditary transthyretin -- related amyloidosis (ATTR), but there is a significant phenotypic heterogeneity depending on the mutation.

Patients and methods
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We evaluated forty consecutive ATTR patients with Glu89Gln mutation, focusing on cardiac involvement - 18 male, 22 female at a mean age of 57.6±6,7 years. A clinical examination, 12--channel ECG, conventional 2D, Doppler and tissue Doppler echocardiography were performed. The patients were followed for 36 months in the range from 2 to 78 months.

Results
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Median age of symptoms development was 52, 3±6, 4 years. Cardiac onset was found in 5 (12,5%) patients. Cardiomyopathy and peripheral polyneuropathy were evident at diagnosis in all patients. Echocardiography revealed a significant increase in wall thickness of both left and right ventricles (septum -- 18,6±3,4 mm; posterior wall -- 17,5±2,5 mm; RV free wall -- 8,4±2,0 mm). Varying degrees of LV diastolic dysfunction were found -- Grade 1 in 11 (27,5%) patients, Grade 2 in 12 (30%) and Grade 3 in 17 (42,5%) patients. A reduced LV ejection fraction was found in 9 (22,5%) patients. A common finding were significantly reduced mitral annulаr systolic velocities (s´septum-5,4±2,0 cm/s, s lat.-5,7±1,9 cm/s), registered in all the evaluated patients, pointing to an impaired LV longitudinal systolic function. The systolic myocardial velocities of the tricuspid annulus and TAPSE values were reduced respectively 6,9±2,1cm/s and 12,8±3 mm in 14 of the patients (35%). Pericardial effusion was found in 13 (32,5%) patients.

Pathological ECG was present in 35(87,5%) of the evaluated patients. Atrial fibrillation was registered in 4 (10%) patients, A-V block first degree in 8 (20%), low voltage in 15 (37,5%), left bundle branch block in 3 (7,5%), left anterior fascicular block in 9 (22,5%), pathological Q wave in 14 (35%), right bundle branch block in 2 (5%), and pace-maker rhythm in 2 (5%). Rhythm and conduction disturbances o