{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,28]],"date-time":"2026-09-28T16:00:29Z","timestamp":1790611229629,"version":"4.1.0"},"reference-count":10,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,8,29]],"date-time":"2023-08-29T00:00:00Z","timestamp":1693267200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Cardiovasc. Med."],"abstract":"<jats:p>Hereditary transthyretin amyloidosis is a severe, adult-onset autosomal dominant inherited systemic disease predominantly affecting the peripheral and autonomic nervous system, heart, kidney, and the eyes. We present a case of a Caucasian 65-year-old man with cardiac amyloidosis and the homozygous mutation Val142Ile (classically, Val122Ile) in the transthyretin gene. We provide a genotype-phenotype correlation regarding the genetic status of both heterozygous and homozygous individuals and their clinical conditions at the time of genetic testing.<\/jats:p>","DOI":"10.3389\/fcvm.2023.1164916","type":"journal-article","created":{"date-parts":[[2023,8,30]],"date-time":"2023-08-30T08:45:19Z","timestamp":1693385119000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":5,"title":["Case Report: A rare homozygous patient affected by TTR systemic amyloidosis with a prominent heart involvement"],"prefix":"10.3389","volume":"10","author":[{"given":"Emanuele","family":"Micaglio","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gloria","family":"Santangelo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Silvia","family":"Moscardelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniela","family":"Rusconi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesco","family":"Musca","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Verde","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Campiglio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Bursi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Guazzi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2023,8,29]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1056\/NEJMoa1716153","article-title":"Patisiran, an RNAi therapeutic, for hereditary transthyretin amyloidosis","volume":"379","author":"Adams","year":"2018","journal-title":"N Engl J Med"},{"key":"B2","doi-asserted-by":"publisher","first-page":"578","DOI":"10.1055\/s-0039-1688994","article-title":"Neuropathy associated with systemic amyloidosis","volume":"39","author":"Kaku","year":"2019","journal-title":"Semin Neurol"},{"key":"B3","doi-asserted-by":"publisher","first-page":"171","DOI":"10.3109\/13506129.2015.1051219","article-title":"Prevalence of the amyloidogenic transthyretin (TTR) V122I allele in 14 333 African-Americans","volume":"22","author":"Jacobson","year":"2015","journal-title":"Amyloid"},{"key":"B4","doi-asserted-by":"publisher","first-page":"e003356","DOI":"10.1161\/CIRCGEN.121.003356","article-title":"Prevalence and outcomes of p.Val142Ile TTR amyloidosis cardiomyopathy: a systematic review","volume":"14","author":"Chandrashekar","year":"2021","journal-title":"Circ Genom Precis Med"},{"key":"B5","doi-asserted-by":"publisher","first-page":"541","DOI":"10.1038\/s41431-022-01235-2","article-title":"Investigation on the high recurrence of the ATTRv-causing transthyretin variant Val142Ile in central Italy","volume":"31","author":"Mazzarotto","year":"2023","journal-title":"Eur J Hum Genet"},{"key":"B6","doi-asserted-by":"publisher","first-page":"122","DOI":"10.2459\/JCM.0000000000000290","article-title":"The Val142Ile transthyretin cardiac amyloidosis: not only an Afro-American pathogenic variant? A single-centre Italian experience","volume":"17","author":"Cappelli","year":"2016","journal-title":"J Cardiovasc Med (Hagerstown)"},{"key":"B7","doi-asserted-by":"publisher","first-page":"68","DOI":"10.1016\/j.jmoldx.2013.08.001","article-title":"Homozygosity for the V122I mutation in transthyretin is associated with earlier onset of cardiac amyloidosis in the African American population in the seventh decade of life","volume":"16","author":"Reddi","year":"2014","journal-title":"J Mol Diagn"},{"key":"B8","doi-asserted-by":"publisher","first-page":"14943","DOI":"10.1073\/pnas.261419998","article-title":"The V122I cardiomyopathy variant of transthyretin increases the velocity of rate-limiting tetramer dissociation, resulting in accelerated amyloidosis","volume":"98","author":"Jiang","year":"2001","journal-title":"Proc Natl Acad Sci U S A"},{"key":"B9","doi-asserted-by":"publisher","first-page":"488","DOI":"10.1016\/j.jaccao.2021.06.006","article-title":"ATTR amyloidosis: current and emerging management strategies: JACC: CardioOncology state-of-the-art review","volume":"3","author":"Griffin","year":"2021","journal-title":"JACC CardioOncol."},{"key":"B10","doi-asserted-by":"publisher","first-page":"431","DOI":"10.1161\/CIRCULATIONAHA.118.035831","article-title":"Effects of patisiran, an RNA interference therapeutic, on cardiac parameters in patients with hereditary transthyretin-mediated amyloidosis","volume":"139","author":"Solomon","year":"2019","journal-title":"Circulation"}],"container-title":["Frontiers in Cardiovascular Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fcvm.2023.1164916\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,30]],"date-time":"2023-08-30T08:45:21Z","timestamp":1693385121000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fcvm.2023.1164916\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,8,29]]},"references-count":10,"alternative-id":["10.3389\/fcvm.2023.1164916"],"URL":"https:\/\/doi.org\/10.3389\/fcvm.2023.1164916","relation":{},"ISSN":["2297-055X"],"issn-type":[{"value":"2297-055X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,8,29]]},"article-number":"1164916"}}