Deepa M Gopal1,2, Frederick L Ruberg3,4,5, Omar K Siddiqi3,4. 1. Amyloidosis Center, Boston University School of Medicine, Boston Medical Center, 72 E. Concord Street, K-503, Boston, MA, 02118, USA. dmgopal@bu.edu. 2. Section of Cardiovascular Medicine, Boston University School of Medicine, Boston Medical Center, 72 E. Concord Street - Collamore, Boston, MA, 02118, USA. dmgopal@bu.edu. 3. Amyloidosis Center, Boston University School of Medicine, Boston Medical Center, 72 E. Concord Street, K-503, Boston, MA, 02118, USA. 4. Section of Cardiovascular Medicine, Boston University School of Medicine, Boston Medical Center, 72 E. Concord Street - Collamore, Boston, MA, 02118, USA. 5. Department of Radiology, Boston University School of Medicine, Boston Medical Center, 72 E. Concord Street, Boston, MA, 02118, USA.
Abstract
PURPOSE OF REVIEW: The review's main focus centers on the genetics of hereditary cardiac amyloidosis, highlighting the opportunities and challenges posed by the widespread availability of genetic screening and diagnostic cardiac imaging. RECENT FINDINGS: Advancements in cardiac imaging, heightened awareness of the ATTR amyloidosis diagnosis, and greater access to genetic testing have all led to an increased appreciation of the prevalence of ATTR cardiac amyloidosis. Elucidation of the TTR molecular structure and effect of mutations on TTR function have allowed for novel TTR therapy development leading to clinical implementation of transthyretin stabilizers and transthyretin gene silencers. The transthyretin amyloidoses are a diverse group of protein misfolding disorders with cardiac and peripheral/autonomic nervous system manifestations due to protein deposition. Genetic screening allows for the early identification of asymptomatic TTR mutation carriers. With the advent of TTR-specific therapeutics, clinical guidance is necessary for the management of individuals with mutations in the TTR gene without evidence of disease.
PURPOSE OF REVIEW: The review's main focus centers on the genetics of hereditary cardiac amyloidosis, highlighting the opportunities and challenges posed by the widespread availability of genetic screening and diagnostic cardiac imaging. RECENT FINDINGS: Advancements in cardiac imaging, heightened awareness of the ATTRamyloidosis diagnosis, and greater access to genetic testing have all led to an increased appreciation of the prevalence of ATTRcardiac amyloidosis. Elucidation of the TTR molecular structure and effect of mutations on TTR function have allowed for novel TTR therapy development leading to clinical implementation of transthyretin stabilizers and transthyretin gene silencers. The transthyretin amyloidoses are a diverse group of protein misfolding disorders with cardiac and peripheral/autonomic nervous system manifestations due to protein deposition. Genetic screening allows for the early identification of asymptomatic TTR mutation carriers. With the advent of TTR-specific therapeutics, clinical guidance is necessary for the management of individuals with mutations in the TTR gene without evidence of disease.
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