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IntroductionTranscatheter aortic valve implantation (TAVI) is a treatment alternative for the elderly population with severe symptomatic aortic stenosis (AS) at high risk for surgical aortic valve replacement (SAVR).AimTo assess the impact of TAVI on echocardiographic parameters of left ventricular (LV) performance and wall thickness in patients subjected to the procedure in a single-centre between 2009 and 2013.Material and methodsThe initial group consisted of 170 consecutive patients with severe AS unsuitable for SAVR. Logistic European System for Cardiac Operative Risk Evaluation (EuroSCORE) was 21.73 ±12.42% and mean age was 79.9 ±7.5 years.ResultsThe TAVI was performed in 167 (98.2%) patients. Mean aortic gradient decreased significantly more rapidly after the procedure (from 58.6 ±16.7 mm Hg to 11.9 ±4.9 mm Hg, p < 0.001). The LV ejection fraction (LVEF) significantly increased in both short-term and long-term follow-up (57 ±14% vs. 59 ±13%, p < 0.001 and 56 ±14% vs. 60 ±12%, p < 0.001, respectively). Significant regression of interventricular septum diameter at end-diastole (IVSDD) and end-diastolic posterior wall thickness (EDPWth) was noted in early (15.0 ±2.4 mm vs. 14.5 ±2.3 mm, p < 0.001 and 12.7 ±2.1 mm vs. 12.4 ±1.9 mm, p < 0.028, respectively) and late post-TAVI period (15.1 ±2.5 mm to 14.3 ±2.5 mm, p < 0.001 and 12.8 ±2.0 mm to 12.4 ±1.9 mm, p < 0.007, respectively). Significant paravalvular leak (PL) was noted in 21 (13.1%) patients immediately after TAVI and in 13 (9.6%) patients in follow-up (p < 0.001). Moderate or severe mitral regurgitation (msMR) was seen in 24 (14.9%) patients from the initial group and in 19 (11.8%) patients after TAVI (p < 0.001).ConclusionsThe TAVI had an immediate beneficial effect on LVEF, LV walls thickness, and the incidence of msMR. The results of the procedure are comparable with those described in other centres.

Background: Transthyretin amyloidosis (ATTR) is a rare, life-threatening systemic disorder. We present first findings on the cardiac hereditary ATTR in Poland. Methods: Sixty-eight consecutive patients with suspected or known cardiac amyloidosis were evaluated, including blood tests, standard 12-lead electrocardiography (ECG) and transthoracic echocardiography. ATTR was confirmed histologically or non-invasively using 99mTc-DPD scintigraphy. Transthyretin (TTR) gene sequencing was performed. Results: In 2017-2019, 10 unrelated male patients were diagnosed with hereditary ATTR. All patients had very uncommon TTR gene mutations: 7 patients had p.Phe53Leu mutation, 2 patients had p.Glu109Lys mutation and 1 patient had p.Ala101Val mutation. The age of onset ranged from 49 to 67 years (mean [SD] age, 58.7 [6.4] years). On ECG, most patients (70%) had pseudoinfarct pattern and/or low QRS voltage. The maximal wall thickness (MWT) on echocardiography varied considerably among the patients from moderate (16 mm) to massively increased (30 mm). Most patients (90%) had decreased LV ejection fraction (mean [SD], 43 [11] %). On follow-up, we observed progressive heart failure in almost all cases. The first patient with p.Phe53Leu mutation died of heart failure, the second died suddenly, the third successfully underwent combined heart and liver transplant with 15 months survival from the surgery. The patient with p.Ala101Val mutation died of stroke. Conclusions: According to available research, this is the first time types of TTR mutations and clinical characteristics of Polish patients with cardiac hereditary ATTR have been reported. Previous literature data about Polish background in families with p.Phe53Leu mutation and the present results, suggest that this TTR mutation might be endemic in the Polish population.

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