{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,27]],"date-time":"2026-06-27T01:14:05Z","timestamp":1782522845600,"version":"3.54.5"},"reference-count":22,"publisher":"MDPI AG","issue":"7","license":[{"start":{"date-parts":[[2025,6,22]],"date-time":"2025-06-22T00:00:00Z","timestamp":1750550400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"European Union NextGenerationEU through the National Recovery and Resilience Plan of the Republic of Bulgaria","award":["BG-RRP-2.004-0004-C01"],"award-info":[{"award-number":["BG-RRP-2.004-0004-C01"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Hereditary transthyretin amyloidosis (ATTRv) is an autosomal dominant disorder caused by pathogenic variants in the TTR gene. The destabilized mutant form of the transport protein transthyretin (TTR) leads to the extracellular deposition of amyloid fibrils. Materials and Methods: A 65-year-old female patient with suspected clinical diagnosis of ATTR was referred for genetic testing for pathogenic variants in the TTR gene after physical, neurological and cardiac testing. Results: The patient had had cardiac dysfunction, atrial fibrillation and supraventricular tachycardia for around 10 years before the suspected and confirmed cardiac amyloidosis. The molecular genetic testing showed a heterozygous pathogenic variant in exon 3 of the TTR gene NM_000371.4(TTR): c.258A&gt;C, p.(Glu86Asp). This variant in the TTR gene is classified as pathogenic in accordance with ACMG\/AMP for the interpretation of variants. Conclusions: The presented case of a very rare pathogenic variant in the TTR gene displays the valuable role of genetic testing on the way to clarifying a diagnosis.<\/jats:p>","DOI":"10.3390\/genes16070726","type":"journal-article","created":{"date-parts":[[2025,6,24]],"date-time":"2025-06-24T09:24:18Z","timestamp":1750757058000},"page":"726","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Novel Pathogenic Variant c.258A&gt;C, p.(Glu86Asp) in the TTR Gene in a Bulgarian Patient with Hereditary Transthyretin Amyloidosis"],"prefix":"10.3390","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9753-2836","authenticated-orcid":false,"given":"Zornitsa","family":"Pavlova","sequence":"first","affiliation":[{"name":"Independent Medico-Diagnostic Laboratory Genome Center \u201cBulgaria\u201d, 1612 Sofia, Bulgaria"},{"name":"Genetic Medico-Diagnostic Laboratory Genica, 1463 Sofia, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5295-6774","authenticated-orcid":false,"given":"Sashka","family":"Zhelyazkova","sequence":"additional","affiliation":[{"name":"Department of Neurology, Expert Centre for Hereditary Neurologic and Metabolic Disorders, University Hospital \u201cAlexandrovska\u201d, Medical University of Sofia, 1431 Sofia, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariana","family":"Gospodinova","sequence":"additional","affiliation":[{"name":"Expert Center for Transthyretin Cardiac Amyloidosis, University Hospital \u201cSt Ivan Rilski\u201d, 1431 Sofia, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anastasia","family":"Ormandjieva","sequence":"additional","affiliation":[{"name":"Independent Medico-Diagnostic Laboratory Genome Center \u201cBulgaria\u201d, 1612 Sofia, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tihomir","family":"Todorov","sequence":"additional","affiliation":[{"name":"Independent Medico-Diagnostic Laboratory Genome Center \u201cBulgaria\u201d, 1612 Sofia, Bulgaria"},{"name":"Genetic Medico-Diagnostic Laboratory Genica, 1463 Sofia, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ognian","family":"Asenov","sequence":"additional","affiliation":[{"name":"Department of Neurology, Expert Centre for Hereditary Neurologic and Metabolic Disorders, University Hospital \u201cAlexandrovska\u201d, Medical University of Sofia, 1431 Sofia, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5142-5007","authenticated-orcid":false,"given":"Teodora","family":"Chamova","sequence":"additional","affiliation":[{"name":"Department of Neurology, Expert Centre for Hereditary Neurologic and Metabolic Disorders, University Hospital \u201cAlexandrovska\u201d, Medical University of Sofia, 1431 Sofia, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Plamen","family":"Antimov","sequence":"additional","affiliation":[{"name":"Department of Neurology, Expert Centre for Hereditary Neurologic and Metabolic Disorders, University Hospital \u201cAlexandrovska\u201d, Medical University of Sofia, 1431 Sofia, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dilyana","family":"Mikova","sequence":"additional","affiliation":[{"name":"Department of Nuclear Medicine, University Hospital St Ivan Rilski, 1431 Sofia, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yordan","family":"Palashev","sequence":"additional","affiliation":[{"name":"Clinical Center of Nuclear Medicine and Radiology, Medical University, 1784 Sofia, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ivailo","family":"Tournev","sequence":"additional","affiliation":[{"name":"Department of Neurology, Expert Centre for Hereditary Neurologic and Metabolic Disorders, University Hospital \u201cAlexandrovska\u201d, Medical University of Sofia, 1431 Sofia, Bulgaria"},{"name":"Department of Cognitive Science and Psychology, New Bulgarian University, 1618 Sofia, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Albena","family":"Todorova","sequence":"additional","affiliation":[{"name":"Independent Medico-Diagnostic Laboratory Genome Center \u201cBulgaria\u201d, 1612 Sofia, Bulgaria"},{"name":"Genetic Medico-Diagnostic Laboratory Genica, 1463 Sofia, Bulgaria"},{"name":"Department of Medical Chemistry and Biochemistry, Medical University Sofia, 1431 Sofia, Bulgaria"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,6,22]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"2641","DOI":"10.1016\/S0140-6736(15)01274-X","article-title":"Systemic amyloidosis","volume":"387","author":"Wechalekar","year":"2016","journal-title":"Lancet"},{"key":"ref_2","doi-asserted-by":"crossref","unstructured":"Chamova, T., Gospodinova, M., Asenov, O., Todorov, T., Pavlova, Z., Kirov, A., Cherninkova, S., Kastreva, K., Taneva, A., and Blagoeva, S. 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