TY  - JOUR
AU  - Gawor, M.
AU  - Holcman, K.
AU  - Franaszczyk, M.
AU  - Lipowska, M.
AU  - Michałek, P.
AU  - Teresińska, A.
AU  - Bilińska, Z.T.
AU  - Rubiś, P.
AU  - Kostkiewicz, M.
AU  - Szot, W.
AU  - Podolec, P.
AU  - Grzybowski, J.
TI  - Spectrum of transthyretin gene mutations and clinical characteristics of Polish patients with cardiac transthyretin amyloidosis
JF  - CARDIOLOGY JOURNAL
J2  - CARDIOL J
VL  - 29
PY  - 2022
IS  - 6
SP  - 985
EP  - 993
PG  - 9
SN  - 1897-5593
DO  - 10.5603/CJ.a2020.0104
UR  - https://m2.mtmt.hu/api/publication/33559361
ID  - 33559361
N1  - Department of Cardiomyopathy, Institute of Cardiology, Warsaw, Poland            
            Department of Cardiac and Vascular Diseases, John Paul II Hospital, Jagiellonian University Medical College, Krakow, Poland            
            Department of Medical Biology, Institute of Cardiology, Warsaw, Poland            
            Department of Neurology, Medical University of Warsaw, Poland            
            Rapid Diagnosis Department, Emergency Room, Institute of Cardiology, Warsaw, Poland            
            Department of Nuclear Medicine, Institute of Cardiology, Warsaw, Poland            
            The Cardinal Stefan Wyszynski Institute of Cardiology, Warsaw, Poland            
            Department of Nuclear Medicine, John Paul II Hospital, Jagiellonian University Medical College, Krakow, Poland            
            Cited By :3            
            Export Date: 12 January 2023            
            Correspondence Address: Gawor, M.; Department of Cardiomyopathy, ul. Alpejska 42, Poland; email: mgawor@ikard.pl
LA  - English
DB  - MTMT
ER  - 

TY  - JOUR
AU  - Gupta, R.
AU  - Lin, M.
AU  - Bokhari, S.
TI  - Unusual presentation of rare Phe33Leu mutation in hereditary TTR cardiac amyloidosis
JF  - FUTURE CARDIOLOGY
J2  - FUTURE CARDIOL
VL  - 18
PY  - 2022
IS  - 6
SP  - 471
EP  - 476
PG  - 6
SN  - 1479-6678
DO  - 10.2217/fca-2021-0130
UR  - https://m2.mtmt.hu/api/publication/33042187
ID  - 33042187
N1  - Export Date: 8 August 2022
LA  - English
DB  - MTMT
ER  - 

TY  - JOUR
AU  - Kitakata, H.
AU  - Moriyama, H.
AU  - Endo, J.
AU  - Ikura, H.
AU  - Fukuda, K.
AU  - Sano, M.
TI  - Treatment of transthyretin His88Arg amyloidosis with RNA interference therapy: A case report
JF  - JOURNAL OF CARDIOLOGY CASES
J2  - J CARDIOL CASES
VL  - 25
PY  - 2022
IS  - 6
SP  - 363
EP  - 366
PG  - 4
SN  - 1878-5409
DO  - 10.1016/j.jccase.2021.12.012
UR  - https://m2.mtmt.hu/api/publication/33042188
ID  - 33042188
N1  - Cited By :1            
            Export Date: 8 August 2022
LA  - English
DB  - MTMT
ER  - 

TY  - JOUR
AU  - Pozsonyi, Zoltán
AU  - Peskó, Gergely
AU  - Takács, Hedvig
AU  - Csuka, Dorottya
AU  - Nagy, Viktória
AU  - Szilágyi, Ágnes
AU  - Hategan, Lídia
AU  - Muk, Balázs
AU  - Csányi, Beáta
AU  - Nyolczas, Noémi
AU  - Dézsi, Livia
AU  - Molnár, Mária Judit
AU  - Csillik, Anita
AU  - Révész, Katalin
AU  - Iványi, Béla
AU  - Szabó, Fruzsina
AU  - Birtalan, Krisztián
AU  - Masszi, Tamás
AU  - Arányi, Zsuzsanna
AU  - Sepp, Róbert
TI  - Variant Transthyretin Amyloidosis (ATTRv) in Hungary: First Data on Epidemiology and Clinical Features
JF  - GENES
J2  - GENES-BASEL
VL  - 12
PY  - 2021
IS  - 8
PG  - 12
SN  - 2073-4425
DO  - 10.3390/genes12081152
UR  - https://m2.mtmt.hu/api/publication/32119902
ID  - 32119902
LA  - English
DB  - MTMT
ER  - 

TY  - JOUR
AU  - Björkenheim, Anna
AU  - Szabó, Barna
AU  - Sztaniszláv, Áron József
TI  - Hereditary transthyretin amyloidosis caused by the rare Phe33Leu mutation
JF  - BMJ CASE REPORTS
J2  - BMJ CASE REP
VL  - 13
PY  - 2020
IS  - 1
SN  - 1757-790X
DO  - 10.1136/bcr-2019-232756
UR  - https://m2.mtmt.hu/api/publication/31208568
ID  - 31208568
AB  - Hereditary transthyretin amyloidosis is a rare progressive systemic disease. We describe a physically active 46-year-old man who presented with dyspnoea on exertion. An echocardiogram showed increased left ventricular wall thickness and diastolic dysfunction, but normal systolic function. The QRS voltage on ECG was normal. The patient was diagnosed with hypertrophic cardiomyopathy, and several years passed before establishment of the accurate diagnosis of hereditary transthyretin amyloidosis caused by the rare mutation ATTR Phe33Leu, previously described in only five case reports. Further investigation revealed neuropathy and nephropathy, and the patient developed severe heart failure. The patient is treated with tafamidis, has undergone heart transplantation and is currently planned for liver transplant. Hereditary transthyretin amyloidosis is likely underdiagnosed, especially in patients presenting with cardiomyopathy. A discrepancy between the left ventricular mass indicated by echocardiogram and that on ECG is an important indicator of amyloidosis, as is involvement of multiple organs.
LA  - English
DB  - MTMT
ER  - 

TY  - JOUR
AU  - Finsterer, Josef
AU  - Iglseder, Stephan
AU  - Wanschitz, Julia
AU  - Topakian, Raffi
AU  - Loscher, Wolfgang N.
AU  - Grisold, Wolfgang
TI  - Hereditary transthyretin-related amyloidosis
JF  - ACTA NEUROLOGICA SCANDINAVICA
J2  - ACTA NEUROL SCAND
VL  - 139
PY  - 2019
IS  - 2
SP  - 92
EP  - 105
PG  - 14
SN  - 0001-6314
DO  - 10.1111/ane.13035
UR  - https://m2.mtmt.hu/api/publication/30883225
ID  - 30883225
LA  - English
DB  - MTMT
ER  -