Variant Transthyretin Amyloidosis (ATTRv) in Hungary: First Data on Epidemiology and Clinical Features.

Zoltán PozsonyiGergely PeskóHedvig TakácsDorottya CsukaViktória NagyÁgnes SzilágyiLidia HateganBalázs MukBeáta CsányiNoémi NyolczasLívia DézsiMária Judit MolnárAnita CsillikKatalin RévészBéla IványiFruzsina SzabóKrisztián BirtalanTamás MassziZsuzsanna ArányiRóbert Sepp

Published in: Genes (2021)

As TTR genotype influences the phenotype and clinical course of ATTRv, it is important to know the regional data. In Hungary, ATTRHis88Arg and ATTRIle107Val are the most common mutations in ATTRv, both presenting with mixed phenotype, but the median age at the time of the diagnosis is 9 years lower in patients with ATTRHis88Arg than in patients with ATTRIle107Val.

Keyphrases

electronic health record
big data
risk factors
case report
data analysis
machine learning
wild type
deep learning