{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,15]],"date-time":"2026-04-15T22:36:22Z","timestamp":1776292582302,"version":"3.50.1"},"reference-count":15,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2025,4,10]],"date-time":"2025-04-10T00:00:00Z","timestamp":1744243200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2025,5,2]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:sec>\n                  <jats:title>Background<\/jats:title>\n                  <jats:p>Genetic disorders are a significant cause of cardiomyopathies. Mutations in the TCAP gene (OMIM #604488) encoding the Z-disc protein Telethonin associated with a mixed phenotype of hypertrophic and restrictive cardiomyopathy with poor prognosis have not yet been reported.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Case summary<\/jats:title>\n                  <jats:p>A 47-year-old male presented with heart failure symptoms over a year, which had worsened in the past week. He has a familial history of cardiomyopathy, as his mother was diagnosed with restrictive cardiomyopathy (RCM). Transthoracic echocardiography and cardiac magnetic resonance imaging (CMR) revealed non-obstructive hypertrophic cardiomyopathy (HCM) with severe diastolic dysfunction, biatrial enlargement, preserved ejection fraction, and normal chamber size. Endomyocardial biopsy demonstrated cardiomyocyte hypertrophy and focal fibrosis. The patient was diagnosed with hypertrophic cardiomyopathy with a restrictive phenotype (RP-HCM). Whole exome sequencing identified a frameshift TCAP mutation producing a truncated product (p.Glu12fs) in the family. Despite interventions, the patient\u2019s cardiac function progressively deteriorated, leading to his placement on the heart transplant waiting list 1 year later.<\/jats:p>\n               <\/jats:sec>\n               <jats:sec>\n                  <jats:title>Discussion<\/jats:title>\n                  <jats:p>In conclusion, we report for the first time that a heterozygous TCAP frameshift mutation resulting in a truncated protein product may contribute to the development of RP-HCM, providing new insights into the genetic basis of cardiomyopathy with mixed phenotypes.<\/jats:p>\n               <\/jats:sec>","DOI":"10.1093\/ehjcr\/ytaf180","type":"journal-article","created":{"date-parts":[[2025,4,10]],"date-time":"2025-04-10T06:24:02Z","timestamp":1744266242000},"source":"Crossref","is-referenced-by-count":1,"title":["Mutations in the <i>TCAP<\/i> gene may lead to restrictive phenotype hypertrophic cardiomyopathy with poor prognosis: case report"],"prefix":"10.1093","volume":"9","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-1008-6293","authenticated-orcid":false,"given":"Yunwen","family":"Hu","sequence":"first","affiliation":[{"name":"Department of Cardiology, Shenzhen People's Hospital (The Second Clinical Medical College, Jinan University, The First Affiliated Hospital, Southern University of Science and Technology) , 1017 North Dongmen road, ShenZhen 518020 ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Guangzhong","family":"Liu","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Shenzhen People's Hospital (The Second Clinical Medical College, Jinan University, The First Affiliated Hospital, Southern University of Science and Technology) , 1017 North Dongmen road, ShenZhen 518020 ,","place":["China"]},{"name":"Cardiovascular Minimally Invasive Medical Engineering Technology Research and Development Center, Shenzhen Key Medical Discipline (SZXK003) , 1017 North Dongmen road, Shenzhen 518020, Guangdong ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jie","family":"Yuan","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Shenzhen People's Hospital (The Second Clinical Medical College, Jinan University, The First Affiliated Hospital, Southern University of Science and Technology) , 1017 North Dongmen road, ShenZhen 518020 ,","place":["China"]},{"name":"Cardiovascular Minimally Invasive Medical Engineering Technology Research and Development Center, Shenzhen Key Medical Discipline (SZXK003) , 1017 North Dongmen road, Shenzhen 518020, Guangdong ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Da","family":"Yin","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Shenzhen People's Hospital (The Second Clinical Medical College, Jinan University, The First Affiliated Hospital, Southern University of Science and Technology) , 1017 North Dongmen road, ShenZhen 518020 ,","place":["China"]},{"name":"Cardiovascular Minimally Invasive Medical Engineering Technology Research and Development Center, Shenzhen Key Medical Discipline (SZXK003) , 1017 North Dongmen road, Shenzhen 518020, Guangdong ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-0721-5295","authenticated-orcid":false,"given":"Yaowang","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Shenzhen People's Hospital (The Second Clinical Medical College, Jinan University, The First Affiliated Hospital, Southern University of Science and Technology) , 1017 North Dongmen road, ShenZhen 518020 ,","place":["China"]},{"name":"Cardiovascular Minimally Invasive Medical Engineering Technology Research and Development Center, Shenzhen Key Medical Discipline (SZXK003) , 1017 North Dongmen road, Shenzhen 518020, Guangdong ,","place":["China"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2025,4,10]]},"reference":[{"key":"2025050603414575000_ytaf180-B1","doi-asserted-by":"crossref","first-page":"4","DOI":"10.1002\/ejhf.2333","article-title":"2021 ESC guidelines for the diagnosis and treatment of acute and chronic heart failure: developed by the task force for the diagnosis and treatment of acute and chronic heart failure of the European Society of Cardiology (ESC). 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