Stuart K Gibson, Arpudh Anandaraj, Christine F McDonald, Anoop N Koshy, Elizabeth Jones
{"title":"Platypnoea-orthodeoxia syndrome following transcatheter aortic valve implantation complicated by aortic annular rupture: a case report.","authors":"Stuart K Gibson, Arpudh Anandaraj, Christine F McDonald, Anoop N Koshy, Elizabeth Jones","doi":"10.1093/ehjcr/ytaf418","DOIUrl":"10.1093/ehjcr/ytaf418","url":null,"abstract":"<p><strong>Background: </strong>Platypnoea-orthodeoxia syndrome (POS) is a rare disorder characterized by dyspnoea and hypoxaemia occurring while upright and improving while recumbent, most often caused by inter-atrial shunting. Diagnosis is challenging, and the syndrome carries considerable morbidity if left untreated. In patients with inter-atrial communications such as a patent foramen ovale (PFO), haemodynamic and structural changes occurring after transcatheter aortic valve implantation (TAVI) can lead to platypnoea-orthodeoxia.</p><p><strong>Case summary: </strong>A 77-year-old patient with severe aortic stenosis was referred for TAVI at our institution. On transthoracic echocardiography, dilatation of the ascending aorta (40 mm) and a mobile atrial septal aneurysm (ASA) were noted. Transcatheter aortic valve implantation was complicated by annular rupture and aortic intramural haematoma (IMH), managed conservatively. Three weeks after discharge, the patient re-presented with cholecystitis and underwent cholecystectomy. Post-operatively, marked hypoxaemia was noted during orthostasis. Transthoracic echocardiography showed the ASA bulging into the left atrium, with a strongly positive saline contrast study while upright. A PFO was identified on transoesophageal echocardiography and successfully percutaneously closed, with hypoxaemia resolving.</p><p><strong>Discussion: </strong>Platypnoea-orthodeoxia syndrome is a rare complication of TAVI, not previously reported after annular rupture. Aortic dilatation is often implicated in platypnoea-orthodeoxia, likely by compressing the interatrial septum and potentiating right-to-left shunting. In our patient, with a mildly dilated aorta prior to intervention, annular rupture and IMH may have further distorted atrial anatomy. Furthermore, rapid improvements in left ventricular compliance and left-sided filling pressures after TAVI may have facilitated the new onset of right-to-left shunting. Platypnoea-orthodeoxia syndrome should be considered in patients with unexplained hypoxaemia after TAVI.</p>","PeriodicalId":11910,"journal":{"name":"European Heart Journal: Case Reports","volume":"9 9","pages":"ytaf418"},"PeriodicalIF":0.8,"publicationDate":"2025-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12448197/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145112156","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Evgeny Zhelyakov, Natalia Sonicheva-Paterson, Svetlana Aleksandrova, Viktor Tcivkovskii, Andrei Ardashev
{"title":"Reciprocated tachycardias in cardiac laminopathy: a clinical case report.","authors":"Evgeny Zhelyakov, Natalia Sonicheva-Paterson, Svetlana Aleksandrova, Viktor Tcivkovskii, Andrei Ardashev","doi":"10.1093/ehjcr/ytaf417","DOIUrl":"10.1093/ehjcr/ytaf417","url":null,"abstract":"<p><strong>Background: </strong>Cardiac laminopathies, associated with mutations in the LMNA gene, are a rare inherited disorder characterized by a broad range of clinical manifestations. There are currently no data on the association between supraventricular re-entrant tachycardias and LMNA-related cardiomyopathy.</p><p><strong>Case summary: </strong>A 26-year-old male presented with either wide-QRS tachycardia with a left bundle branch block (LBBB) pattern or narrow QRS tachycardia, as well as a history of palpitations since age 15. Echocardiography showed no overt structural heart disease. Electrophysiological studies confirmed the diagnosis of orthodromic atrioventricular re-entrant tachycardia mediated by a concealed left posterolateral accessory pathway (AP), with transient LBBB and dual AV-node physiology, characterized by single echo beats. A short-run, asymptomatic episode of atrial fibrillation was induced. Cardiac magnetic resonance (CMR) imaging demonstrated myocardial hyperaemia, subepicardial late gadolinium enhancement, and a small pericardial effusion, initially interpreted as myocarditis according to the modified Lake Louise criteria. A family history of pacemaker implantation and cardiac death at age 65 of the patient's grandfather, a history of re-entrant arrhythmia recurrence following ablation, and further CMR deteriorations led to genetic counselling. Genetic testing identified a heterozygous pathogenic variant in the LMNA gene (NM_170707.3.456_457insTCTC, NP_733821.1.Glu154GlnfsX2), classified as likely pathogenic and associated with laminopathy.</p><p><strong>Discussion: </strong>This case raises the question of whether the combination of re-entrant arrhythmias is coincidental or an early indicator of LMNA-related cardiomyopathy.</p>","PeriodicalId":11910,"journal":{"name":"European Heart Journal: Case Reports","volume":"9 9","pages":"ytaf417"},"PeriodicalIF":0.8,"publicationDate":"2025-08-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12415688/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145029199","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
José Martín Alanís-Naranjo, Omar Alejandro Gil-Guzmán, Daniel Velasco-Ortiz, Ma Delia Pérez Montiel-Gómez
{"title":"Intrapericardial localization of solitary fibrous tumour: a case report.","authors":"José Martín Alanís-Naranjo, Omar Alejandro Gil-Guzmán, Daniel Velasco-Ortiz, Ma Delia Pérez Montiel-Gómez","doi":"10.1093/ehjcr/ytaf422","DOIUrl":"10.1093/ehjcr/ytaf422","url":null,"abstract":"<p><strong>Background: </strong>A solitary fibrous tumour (SFT) is a rare fibroblastic tumour, with primary cardiac SFT extremely rare. We report a rare case of a patient presenting with sudden dyspnoea who was diagnosed with a primary cardiac SFT.</p><p><strong>Case summary: </strong>A 56-year-old woman with a history of diabetes and active smoking presented with sudden dyspnoea. Computed tomography scan revealed a mass adjacent to the left ventricle. In addition to the large pericardial effusion, no signs of cardiac tamponade or valvulopathies were found on echocardiography. The patient underwent open-heart surgery and mass removal, finding a tumour located inside the pericardial sac and attached to the left ventricle's lateral wall; it did not invade other heart structures. Histological and immunohistochemical examination of the mass revealed SFT diagnosis. The patient was discharged from the hospital in full health, and follow-up examinations revealed no evidence of tumour recurrence.</p><p><strong>Discussion: </strong>Solitary fibrous tumour most commonly occurs in middle-aged patients and is not gender specific. Multimodal imaging is crucial for diagnosing and managing SFT. A definitive diagnosis must be based on both immunohistochemical and histopathological findings. STAT6 immunoexpression is the most reliable marker for histopathology diagnosis. Given the high SFT recurrence rate, follow-up is essential.</p>","PeriodicalId":11910,"journal":{"name":"European Heart Journal: Case Reports","volume":"9 9","pages":"ytaf422"},"PeriodicalIF":0.8,"publicationDate":"2025-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12418934/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145039431","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Bo Lan, Zhiyu Liu, Jing Bai, Junnan Tang, Jinying Zhang
{"title":"Restrictive cardiomyopathy due to new mutation in the ACTN2 gene: a case report.","authors":"Bo Lan, Zhiyu Liu, Jing Bai, Junnan Tang, Jinying Zhang","doi":"10.1093/ehjcr/ytaf421","DOIUrl":"10.1093/ehjcr/ytaf421","url":null,"abstract":"<p><strong>Background: </strong>Restrictive cardiomyopathy (RCM) is a relatively rare cardiomyopathy. We report a case of familial restrictive cardiomyopathy confirmed by myocardial biopsy and genetic testing.</p><p><strong>Case summary: </strong>A 19-year-old male presented with recurrent syncope and cardiac arrest episodes over 1 year. Genetic testing identified a novel heterozygous insertion mutation (c.2489_2490insTTGCT, p.Q830Hfs*73) in the ACTN2 gene, altering a highly conserved amino acid sequence. Immunohistochemical analysis of endomyocardial biopsies revealed significantly elevated ACTN2 protein expression (77.34% positivity, H-Score 132.14). This mutation represents a likely pathogenic variant accounting for sudden cardiac deaths in multiple male family members.</p><p><strong>Discussion: </strong>Restrictive cardiomyopathy has a rigid, noncompliant left ventricle, and left ventricular systolic function is usually preserved in the early stages of RCM but tends to deteriorate over time. In this case, the only adaptive response that can increase cardiac output is an increase in the heart rate, which may be attenuated in patients with concomitant autonomic dysfunction, thereby increasing the risk of hypotension during exercise. Therefore, hypotension due to decreased left cardiac output may have been the main cause of post-exercise syncope in this case.In this report, we used whole-exome sequencing to identify a mutation in the ACTN2 gene of this RCM patient. Subsequently, we performed a one-generation validation in his mother and his brother and analysed the correlation between this gene variant and the RCM phenotype. This may be helpful for early identification and diagnosis of RCM.</p>","PeriodicalId":11910,"journal":{"name":"European Heart Journal: Case Reports","volume":"9 9","pages":"ytaf421"},"PeriodicalIF":0.8,"publicationDate":"2025-08-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12448205/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145112292","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Merve Kural, Stephan Rosenkranz, Stephan Baldus, Alexander Christian Bunck, Tobias Tichelbäcker
{"title":"In-hospital cardiac arrest due to acute pulmonary embolism: a case report of successful catheter-directed thrombectomy on a patient with VA-ECMO.","authors":"Merve Kural, Stephan Rosenkranz, Stephan Baldus, Alexander Christian Bunck, Tobias Tichelbäcker","doi":"10.1093/ehjcr/ytaf342","DOIUrl":"10.1093/ehjcr/ytaf342","url":null,"abstract":"<p><strong>Background: </strong>First-line therapy for high-risk pulmonary embolism (PE) is systemic thrombolysis. Catheter-directed thrombectomy (CDT) poses as a secondary option, primarily in patients with contraindications for systemic thrombolysis. However, in patients with haemodynamic instability or cardiac arrest, CDT can worsen the haemodynamic situation making use of large thrombectomy catheters. The implementation of extracorporeal life support such as veno-arterial extracorporeal membrane oxygenation (VA-ECMO) can play a decisive role in making CDT possible. Herein, we present a case of CDT on a high-risk PE patient under VA-ECMO.</p><p><strong>Case summary: </strong>A 73-year-old White male was hospitalized in order to perform abdominal surgery. Afterwards, multiple complications led to recurring operations and a prolonged immobilization time. In the aftermath, the patient suffered an in-hospital cardiac arrest and was put on VA-ECMO. A computed tomography pulmonary angiography presented bilateral central PE. Due to contraindications for systemic thrombolysis, successful CDT using a FlowTriever catheter was performed, leading to a reduction of mean pulmonary arterial pressure. ECMO therapy could be terminated in the following days. The patient was eventually discharged without any signs of right heart strain in transthoracic echocardiogram, neurological sequelae or dyspnoea.</p><p><strong>Discussion: </strong>According to current ESC-guidelines, first-line therapy for high-risk PE is systemic thrombolysis, and CDT is a secondary option. In our case, CDT under VA-ECMO was feasible and led to a rapid improvement in haemodynamics, resulting in a long-term recovery. Thus, the definite significance of CDT has yet to be identified, especially concerning PE with refractory cardiac arrest and contraindications for systemic thrombolysis.</p>","PeriodicalId":11910,"journal":{"name":"European Heart Journal: Case Reports","volume":"9 8","pages":"ytaf342"},"PeriodicalIF":0.8,"publicationDate":"2025-08-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12377017/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144947559","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Yoshihito Saijo, Hirotsugu Yamada, Robert Zheng, Soichiro Sasa, Masataka Sata
{"title":"Breast cancer surgery under mechanical circulatory support in a patient with cancer therapy-related cardiac dysfunction: a case report.","authors":"Yoshihito Saijo, Hirotsugu Yamada, Robert Zheng, Soichiro Sasa, Masataka Sata","doi":"10.1093/ehjcr/ytaf407","DOIUrl":"10.1093/ehjcr/ytaf407","url":null,"abstract":"<p><strong>Background: </strong>The incidence of cancer therapy-related cardiac dysfunction is increasing with the growing number of breast cancer patients. In particular, patients with active cancer combined with severe irreversible cardiac dysfunction present significant challenges in treatment decision-making.</p><p><strong>Case summary: </strong>A 40-year-old woman with Stage II HER-2-positive breast cancer received anthracycline followed by HER2-targeted agents. She developed severe heart failure due to cancer therapy-related cardiac dysfunction, with haemodynamic instability necessitating mechanical circulatory support using percutaneous cardiopulmonary support and Impella 5.5. Several weaning attempts of Impella 5.5 failed. Due to limitation for the duration of Impella support, right breast tumour resection and axillary lymph node dissection were performed under ongoing Impella support. The procedure was completed without surgical complications including significant bleeding. The patient was transferred to a specialized cardiovascular institution for possible left ventricular assist device evaluation.</p><p><strong>Discussion: </strong>This case report provides valuable insight into treatment decision-making in complex cases of irreversible cancer therapy-related cardiac dysfunction, where both oncologic and cardiologic considerations must be balanced under time-limited support devices.</p>","PeriodicalId":11910,"journal":{"name":"European Heart Journal: Case Reports","volume":"9 9","pages":"ytaf407"},"PeriodicalIF":0.8,"publicationDate":"2025-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12415687/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145029166","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Complex coronary lesions: increasing safety and outcomes with optimal lesion preparation as well as prompt complication management.","authors":"Farhang Aminfar, David Meier, Vladimir Rubimbura","doi":"10.1093/ehjcr/ytaf396","DOIUrl":"10.1093/ehjcr/ytaf396","url":null,"abstract":"","PeriodicalId":11910,"journal":{"name":"European Heart Journal: Case Reports","volume":"9 9","pages":"ytaf396"},"PeriodicalIF":0.8,"publicationDate":"2025-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12405869/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144999907","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Totally endoscopic mitral valve replacement for mitral regurgitation post-transcatheter aortic valve implantation: a case report.","authors":"Yoshihiro Goto, Sho Takagi, Junji Yanagisawa, Masanori Yamamoto","doi":"10.1093/ehjcr/ytaf420","DOIUrl":"10.1093/ehjcr/ytaf420","url":null,"abstract":"<p><strong>Background: </strong>Mitral regurgitation (MR) may rarely worsen after transcatheter aortic valve implantation (TAVI) due to mechanical interference from the transcatheter heart valve (THV). Standard surgical approaches in these cases are often challenging due to anatomical constraints. Thus, there is a need for the development of effective alternatives to address this issue.</p><p><strong>Case summary: </strong>We present a case of a 79-year-old male on chronic haemodialysis who developed acute decompensated heart failure following implantation of a self-expanding THV. Transoesophageal echocardiography revealed anterior mitral leaflet (AML) restriction due to direct contact with the THV stent frame. A totally endoscopic mitral valve replacement (MVR), without robotic assistance, was performed via a right mini-thoracotomy. The AML was partially resected, and a 25 mm bioprosthetic valve was successfully implanted in a supra-annular position. The postoperative course was uneventful, and the patient was discharged on Day 6.</p><p><strong>Discussion: </strong>Worsening of MR after TAVI is rare but may occur due to physical interference with mitral valve leaflets. Self-expanding THVs, such as Evolut-FX, may cause leaflet restriction, especially when implanted deep or in patients with small left ventricular outflow tracts. In the present case, the stent protruded beyond the annulus, preventing leaflet motion and leading to symptomatic MR. It was demonstrated that totally endoscopic MVR is a viable minimally invasive approach for post-TAVI MR due to THV interference, even in high-risk patients.</p>","PeriodicalId":11910,"journal":{"name":"European Heart Journal: Case Reports","volume":"9 9","pages":"ytaf420"},"PeriodicalIF":0.8,"publicationDate":"2025-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12416137/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145029131","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Joshua A Rushakoff, Karen Flores Rosario, Phoenix Grover, Andrew Wang
{"title":"Smartwatch bradycardia alarms leading to a diagnosis of lamin A/C cardiomyopathy: a case report.","authors":"Joshua A Rushakoff, Karen Flores Rosario, Phoenix Grover, Andrew Wang","doi":"10.1093/ehjcr/ytaf415","DOIUrl":"10.1093/ehjcr/ytaf415","url":null,"abstract":"<p><strong>Background: </strong>Genetic aetiologies of early-onset arrhythmias and cardiomyopathy (CM) are common, but timely diagnosis requires a high index of suspicion.</p><p><strong>Case summary: </strong>An asymptomatic 47-year-old man presented to cardiology clinic for smartwatch low-rate alarms. His brother had exertional syncope and died in his 20s from heart failure. Transthoracic echocardiogram showed reduced left ventricular ejection fraction (35%). A Holter monitor showed third-degree atrioventricular block and frequent pauses (longest 4.9 s). He was admitted to the hospital and following a cardiac magnetic resonance imaging with late gadolinium enhancement a cardiac resynchronization therapy-defibrillator was placed. Genetic testing identified a pathogenic variant in the lamins protein A and C (LMNA) gene.</p><p><strong>Discussion: </strong>Left ventricular dysfunction with or without arrhythmias should raise concern for familial CM and warrants further evaluation. Lamin A/C cardiomyopathy is the second most prevalent cause of familial dilated CM and is notable for an indolent course with conduction disturbances that frequently precede left ventricular dysfunction. Smartwatch alarms can potentially help with the early identification of patients with risk factors for familial CM before the development of overt symptoms.</p>","PeriodicalId":11910,"journal":{"name":"European Heart Journal: Case Reports","volume":"9 9","pages":"ytaf415"},"PeriodicalIF":0.8,"publicationDate":"2025-08-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12412439/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145014222","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}