التفاصيل البيبلوغرافية
| العنوان: |
Spectrum of transthyretin gene mutations and clinical characteristics of Polish patients with cardiac transthyretin amyloidosis |
| المؤلفون: |
Gawor, Monika, Holcman, Katarzyna, Franaszczyk, Maria, Lipowska, Marta, Michałek, Piotr, Teresińska, Anna, Bilińska, Zofia T., Rubiś, Paweł, Kostkiewicz, Magdalena, Szot, Wojciech, Podolec, Piotr, Grzybowski, Jacek |
| المصدر: |
Cardiology Journal; Vol 29, No 6 (2022); 985-993 |
| بيانات النشر: |
Via Medica |
| سنة النشر: |
2022 |
| المجموعة: |
Via Medica Journals |
| مصطلحات موضوعية: |
cardiac amyloidosis, hereditary transthyretin amyloidosis, transthyretin amyloidosis, transthyretin cardiomyopathy, transthyretin mutation |
| الوصف: |
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 left ventricular 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 data, this is the first time that the types of TTR mutations and the clinical characteristics of Polish patients with cardiac hereditary ATTR have been described. 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. |
| نوع الوثيقة: |
other/unknown material |
| وصف الملف: |
application/pdf; text/html |
| اللغة: |
English |
| العلاقة: |
https://journals.viamedica.pl/cardiology_journal/article/view/CJ.a2020.0104Test |
| DOI: |
10.5603/CJ.a2020.0104 |
| الإتاحة: |
https://doi.org/10.5603/CJ.a2020.0104Test
https://journals.viamedica.pl/cardiology_journal/article/view/CJ.a2020.0104Test |
| حقوق: |
Completion of the online submission form electronically is tantamount to automatically and free-of-charge transferring of the copyright for publishing and distribution of the submitted material (in all known now and developed in the future forms and fields of exploitation) to the Publisher, under condition that those materials are accepted for publication. The authors agree not to publish any data or figures presented in their work anywhere and in any language without the prior written consent of the owner of the copyrights, i.e. the Publisher. |
| رقم الانضمام: |
edsbas.A109BD0 |
| قاعدة البيانات: |
BASE |
