{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T15:49:41Z","timestamp":1753890581087,"version":"3.41.2"},"reference-count":27,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2025,5,8]],"date-time":"2025-05-08T00:00:00Z","timestamp":1746662400000},"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>The prevalence of Inherited transthyretin cardiac amyloidosis (hATTR-CA) is rising with an aging population and more mutation carriers. Its symptoms often resemble other heart diseases, leading to delayed diagnosis and affecting prognosis. With the advancement of noninvasive diagnostic methods, early detection and targeted treatment of hATTR-CA are becoming possible. However, better clinical awareness and diagnostic capabilities are still needed. This article reports a typical case of a 70-year-old man diagnosed with hATTR-CA. The patient presented with cardiac symptoms, including chronic chest tightness, breathlessness, and hypotension, as well as extracardiac symptoms such as chronic diarrhea. He also experienced two episodes of syncope, with symptoms progressively worsening. The diagnosis of hATTR-CA was confirmed following a comprehensive diagnostic work-up, including ECG, ambulatory blood pressure monitoring, echocardiography, cardiac magnetic resonance (CMR), bone scintigraphy, and genetic testing, in accordance with current guidelines. The patient has been treated with tafamidis, a transthyretin (TTR) tetramer stabilizer, for 3 months. While there was no significant improvement in ECG and echocardiography, the patient reported a marked reduction in chest tightness, breathlessness, hypotension, and gastrointestinal symptoms compared to before treatment. This case, along with a literature review, explores the clinical features, diagnostic methods, and treatment strategies of the disease, highlighting the importance of early diagnosis for prognosis, particularly the role of imaging in diagnosis.<\/jats:p>","DOI":"10.3389\/fcvm.2025.1588291","type":"journal-article","created":{"date-parts":[[2025,5,8]],"date-time":"2025-05-08T05:26:20Z","timestamp":1746681980000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Inherited transthyretin cardiac amyloidosis presenting with diastolic heart failure and gastrointestinal symptoms: a case report and literature review"],"prefix":"10.3389","volume":"12","author":[{"given":"Juan","family":"Wang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Run","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zhengliang","family":"Li","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wenzhong","family":"Zhang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2025,5,8]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"595","DOI":"10.1007\/s10072-020-04889-2","article-title":"Hereditary transthyretin amyloidosis overview","volume":"43","author":"Manganelli","year":"2022","journal-title":"Neurol Sci"},{"key":"B2","doi-asserted-by":"publisher","first-page":"781","DOI":"10.17179\/excli2023-6284","article-title":"Cardiac amyloidosis: evolving pathogenesis, multimodal diagnostics, and principles of treatment","volume":"22","author":"Medarametla","year":"2023","journal-title":"EXCLI J"},{"key":"B3","doi-asserted-by":"publisher","first-page":"101232","DOI":"10.1016\/j.jacadv.2024.101232(2772-963X","article-title":"Impact of the noninvasive diagnostic algorithm on clinical presentation and prognosis in cardiac amyloidosis","volume":"3","author":"Tini","year":"2024","journal-title":"JACC Adv"},{"key":"B4","doi-asserted-by":"publisher","first-page":"163","DOI":"10.1007\/s10741-014-9462-7","article-title":"Natural history and therapy of TTR-cardiac amyloidosis: emerging disease-modifying therapies from organ transplantation to stabilizer and silencer drugs","volume":"20","author":"Casta\u00f1o","year":"2015","journal-title":"Heart Fail Rev"},{"key":"B5","first-page":"49","article-title":"Investigating cardiac amyloidosis: a primer for clinicians","volume":"108","author":"Bukhari","year":"2025","journal-title":"R I Med J (2013)"},{"key":"B6","doi-asserted-by":"publisher","first-page":"499","DOI":"10.1373\/clinchem.2008.117143","article-title":"Identification of amyloidogenic light chains requires the combination of serum-free light chain assay with immunofixation of serum and urine","volume":"55","author":"Palladini","year":"2009","journal-title":"Clin Chem"},{"key":"B7","doi-asserted-by":"publisher","first-page":"519","DOI":"10.1007\/s12350-020-02281-3","article-title":"Coexistent transthyretin amyloid cardiomyopathy and monoclonal gammopathy: diagnostic challenges and prognostic implications","volume":"29","author":"Lee Chuy","year":"2022","journal-title":"J Nucl Cardiol"},{"key":"B8","doi-asserted-by":"publisher","first-page":"195","DOI":"10.1161\/CIRCIMAGING.112.000132","article-title":"(99m)Tc-pyrophosphate scintigraphy for differentiating light-chain cardiac amyloidosis from the transthyretin-related familial and senile cardiac amyloidoses","volume":"6","author":"Bokhari","year":"2013","journal-title":"Circ Cardiovasc Imaging"},{"key":"B9","doi-asserted-by":"publisher","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":"B10","doi-asserted-by":"publisher","first-page":"oead106","DOI":"10.1093\/ehjopen\/oead106","article-title":"Cardiac amyloidosis and aortic stenosis: a state-of-the-art review","volume":"3","author":"Jaiswal","year":"2023","journal-title":"Eur Heart J Open"},{"key":"B11","doi-asserted-by":"publisher","first-page":"2872","DOI":"10.1016\/j.jacc.2019.04.003","article-title":"Transthyretin amyloid cardiomyopathy: JACC state-of-the-art review","volume":"73","author":"Ruberg","year":"2019","journal-title":"J Am Coll Cardiol"},{"key":"B12","doi-asserted-by":"publisher","first-page":"913","DOI":"10.1111\/pace.13992","article-title":"Catheter ablation of atrial fibrillation in cardiac amyloidosis","volume":"43","author":"Black-Maier","year":"2020","journal-title":"Pacing Clin Electrophysiol"},{"key":"B13","doi-asserted-by":"publisher","first-page":"349","DOI":"10.1016\/0002-9343(62)90231-0","article-title":"Amyloid disease of the liver. Correlation of clinical, functional and morphologic features in forty-seven patients","volume":"33","author":"Levine","year":"1962","journal-title":"Am J Med"},{"key":"B14","doi-asserted-by":"publisher","first-page":"763","DOI":"10.1016\/s0025-6196(12)60634-x","article-title":"Symptomatic gastric amyloidosis in patients with primary systemic amyloidosis","volume":"68","author":"Menke","year":"1993","journal-title":"Mayo Clin Proc"},{"key":"B15","doi-asserted-by":"publisher","first-page":"144","DOI":"10.3390\/biomedicines13010144","article-title":"Gut-heart axis: microbiome involvement in restrictive cardiomyopathies","volume":"13","author":"Jaimez-Alvarado","year":"2025","journal-title":"Biomedicines"},{"key":"B16","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1136\/hrt.2009.190405","article-title":"Amyloid diseases of the heart: assessment, diagnosis, and referral","volume":"97","author":"Dubrey","year":"2011","journal-title":"Heart"},{"key":"B17","doi-asserted-by":"publisher","first-page":"e75582","DOI":"10.7759\/cureus.75582","article-title":"Carpal tunnel syndrome as a potential indicator of cardiac amyloidosis: a systematic review and meta-analysis","volume":"16","author":"Elghouneimy","year":"2024","journal-title":"Cureus"},{"key":"B18","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1016\/j.jor.2024.02.047","article-title":"Transthyretin amyloidosis in spinal canal stenosis: a systematic review","volume":"53","author":"Moore","year":"2024","journal-title":"J Orthop"},{"key":"B19","doi-asserted-by":"publisher","first-page":"87","DOI":"10.4329\/wjr.v12.i6.87","article-title":"Multi-modality imaging of cardiac amyloidosis: contemporary update","volume":"12","author":"Wang","year":"2020","journal-title":"World J Radiol"},{"key":"B20","doi-asserted-by":"publisher","first-page":"256","DOI":"10.3390\/jcdd10060256","article-title":"Invasive and non-invasive diagnostic pathways in the diagnosis of cardiac amyloidosis","volume":"10","author":"Briasoulis","year":"2023","journal-title":"J Cardiovasc Dev Dis"},{"key":"B21","doi-asserted-by":"publisher","first-page":"2019","DOI":"10.1002\/ejhf.2650","article-title":"Atrial amyloidosis: mechanisms and clinical manifestations","volume":"24","author":"Vergaro","year":"2022","journal-title":"Eur J Heart Fail"},{"key":"B22","doi-asserted-by":"publisher","first-page":"102860","DOI":"10.1016\/j.cpcardiol.2024.102860","article-title":"Artificial intelligence-enhanced electrocardiogram for the diagnosis of cardiac amyloidosis: a systemic review and meta-analysis","volume":"49","author":"Khan","year":"2024","journal-title":"Curr Probl Cardiol"},{"key":"B23","doi-asserted-by":"publisher","first-page":"4738","DOI":"10.1093\/eurheartj\/ehad510","article-title":"Cardiac magnetic resonance biomarkers as surrogate endpoints in cardiovascular trials for myocardial diseases","volume":"44","author":"Benz","year":"2023","journal-title":"Eur Heart J"},{"key":"B24","doi-asserted-by":"publisher","first-page":"37","DOI":"10.1007\/s11886-025-02202-1","article-title":"The accuracy of technetium-99m pyrophosphate imaging in diagnosing transthyretin cardiac amyloidosis and its impact on patient management","volume":"27","author":"Altaha","year":"2025","journal-title":"Curr Cardiol Rep"},{"key":"B25","doi-asserted-by":"publisher","first-page":"1076","DOI":"10.1016\/j.jacc.2022.11.022","article-title":"2023 ACC expert consensus decision pathway on comprehensive multidisciplinary care for the patient with cardiac amyloidosis: a report of the American College of Cardiology solution set oversight committee","volume":"81","author":"Kittleson","year":"2023","journal-title":"J Am Coll Cardiol"},{"key":"B26","doi-asserted-by":"publisher","first-page":"469","DOI":"10.1080\/14656566.2020.1836159","article-title":"Advances in pharmacotherapy for cardiac amyloidosis","volume":"22","author":"Spoladore","year":"2021","journal-title":"Expert Opin Pharmacother"},{"key":"B27","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1080\/13506129.2024.2435573","article-title":"Pathogenesis, manifestations, diagnosis, and management of CNS complications in hereditary ATTR amyloidosis","author":"Sekijima","year":"2024","journal-title":"Amyloid"}],"container-title":["Frontiers in Cardiovascular Medicine"],"original-title":[],"link":[{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fcvm.2025.1588291\/full","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,5,8]],"date-time":"2025-05-08T05:26:21Z","timestamp":1746681981000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.frontiersin.org\/articles\/10.3389\/fcvm.2025.1588291\/full"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5,8]]},"references-count":27,"alternative-id":["10.3389\/fcvm.2025.1588291"],"URL":"https:\/\/doi.org\/10.3389\/fcvm.2025.1588291","relation":{},"ISSN":["2297-055X"],"issn-type":[{"type":"electronic","value":"2297-055X"}],"subject":[],"published":{"date-parts":[[2025,5,8]]},"article-number":"1588291"}}