ATTR Gene Variants in HCM

Autor: Anthony J. Kanelidis, MD, Jeremy A. Slivnick, MD, Rachel Campagna, MS, CGC, Bryan Smith, MD, Sara Kalantari, MD, Nitasha Sarswat, MD, Gene Kim, MD
Jazyk: angličtina
Rok vydání: 2024
Předmět:
Zdroj: JACC: Case Reports, Vol 29, Iss 6, Pp 102236- (2024)
Druh dokumentu: article
ISSN: 2666-0849
DOI: 10.1016/j.jaccas.2024.102236
Popis: Hypertrophic cardiomyopathy is the most common inherited cardiomyopathy, with a prevalence of 1:200 to 1:500. Cardiac amyloidosis, another cardiomyopathy caused by myocardial deposition of abnormally folded TTR protein, can be acquired or hereditary. The presence of pathogenic TTR gene variants in patients with phenotypic HCM is an underrecognized and clinically important entity.
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