European Heart Journal: Case Reports最新文献_第2页

PPA2 deficiency-a rare cause of genetic cardiomyopathy: a case report. PPA2缺乏-遗传性心肌病的罕见病因：1例报告。

IF 0.8

European Heart Journal: Case Reports Pub Date : 2025-07-11 eCollection Date: 2025-07-01 DOI: 10.1093/ehjcr/ytaf307

Sanchaya Khetrapal, Aakash Tuli, Yochitha Pulipati, Victor Farah, Indu Poornima

{"title":"PPA2 deficiency-a rare cause of genetic cardiomyopathy: a case report.","authors":"Sanchaya Khetrapal, Aakash Tuli, Yochitha Pulipati, Victor Farah, Indu Poornima","doi":"10.1093/ehjcr/ytaf307","DOIUrl":"10.1093/ehjcr/ytaf307","url":null,"abstract":"Background: PPA2 deficiency is a rare mitochondrial disorder associated with non-ischemic cardiomyopathy, recurrent rhabdomyolysis, and sudden cardiac death (SCD). This case attempts to highlight the diagnostic and management challenges and contribute to the growing literature on mitochondrial disorders.Case summary: A 21-year-old female with lupus presented with chest pain that developed after hospitalisation for rhabdomyolysis during a viral illness. A cardiac MRI showed patchy late gadolinium enhancement suggestive of myocarditis. She was started on colchicine, but her symptoms persisted. Subsequent imaging revealed persistent myocardial inflammation without troponin elevation. She experienced further episodes of muscle aches and chest pain, prompting additional hospitalisations. Her sibling's diagnosis of non-ischemic cardiomyopathy and need for cardiac transplantation raised suspicion for a genetic aetiology. Genetic testing confirmed compound heterozygosity for pathogenic PPA2 variants (c.380G > T and c.514G > A). She was managed with rhythm monitoring, alcohol avoidance, and genetic counseling.Discussion: PPA2 deficiency should be suspected in patients with unexplained cardiomyopathy, recurrent muscle involvement, and family history of SCD. Cardiac MRI findings of subepicardial and mid-myocardial fibrosis without troponin elevation are characteristic. Early identification allows for lifestyle modifications and consideration of preventive measures like an implantable cardioverter-defibrillator to mitigate the risk of SCD. This case highlights the importance of recognising PPA2 cardiomyopathy in young patients with recurrent cardiac and muscle symptoms. Comprehensive diagnostic evaluation, including genetic testing, is crucial for identifying this rare but life-threatening condition.","PeriodicalId":11910,"journal":{"name":"European Heart Journal: Case Reports","volume":"9 7","pages":"ytaf307"},"PeriodicalIF":0.8,"publicationDate":"2025-07-11","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12284632/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144697876","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}

引用次数: 0

The Rac sign: a transthoracic echocardiography sign that should prompt thorough evaluation of the coronary arteries. Rac征象：一种经胸超声心动图征象，应提示对冠状动脉进行全面检查。

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European Heart Journal: Case Reports Pub Date : 2025-07-10 eCollection Date: 2025-07-01 DOI: 10.1093/ehjcr/ytaf300

Panagioula Niarchou, George Michas, Efstathia Prappa, Athanasios Trikas

引用次数: 0

Coronary steal from an anomalous circumflex artery diagnosed 25 years after ventricular septal defect closure: a case report. 室间隔缺损闭合后25年诊断的异常旋转动脉冠状动脉偷取一例报告。

IF 0.8

European Heart Journal: Case Reports Pub Date : 2025-07-10 eCollection Date: 2025-07-01 DOI: 10.1093/ehjcr/ytaf325

Bastien Provost, Viktoria Weixler, Emmanuelle Fournier, Adelaide Richard, Emre Belli

{"title":"Coronary steal from an anomalous circumflex artery diagnosed 25 years after ventricular septal defect closure: a case report.","authors":"Bastien Provost, Viktoria Weixler, Emmanuelle Fournier, Adelaide Richard, Emre Belli","doi":"10.1093/ehjcr/ytaf325","DOIUrl":"10.1093/ehjcr/ytaf325","url":null,"abstract":"Background: Association of anomalous origin of a coronary artery arising from pulmonary artery (PA) with other congenital heart defects, such as ventricular septal defects (VSDs), is uncommon. In such cases, coronary anomalies may be overlooked and underdiagnosed.Case summary: We report a case of late diagnosis of a circumflex coronary artery arising from the right PA, 25 years after VSD-closure during infancy with a complicated post-operative course with severe left ventricular dysfunction. Eventually being discharged, she remained asymptomatic until reaching adulthood, when she developed atypical chest pain during moderate exertion initially with no further investigation being performed. The patient further developed palpitations and underwent a CT-scan, showing an anomalous circumflex artery arising from the right PA. Surgical circumflex artery re-implantation was performed and the symptoms have resolved.Discussion: This case report highlights the unique pathophysiology of coronary artery steal when arising from the PA. Severe ventricular dysfunction, frequently occurring post-operatively after VSD-closure is usually related to increased afterload. However, other causes should not be neglected especially if function does not improve. Long-term follow-up is therefore mandatory for patients diagnosed with congenital heart disease, even after supposedly simple defects.","PeriodicalId":11910,"journal":{"name":"European Heart Journal: Case Reports","volume":"9 7","pages":"ytaf325"},"PeriodicalIF":0.8,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12301549/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144728948","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}

引用次数: 0

Successful upfront combination therapy against pulmonary arterial hypertension associated with unilateral absence of the pulmonary artery: a case report. 成功的前期联合治疗肺动脉高压合并单侧肺动脉缺失：1例报告。

IF 0.8

European Heart Journal: Case Reports Pub Date : 2025-07-10 eCollection Date: 2025-07-01 DOI: 10.1093/ehjcr/ytaf328

Naoyuki Otani, Shoya Ono, Takushi Sugiyama, Hiroshi Harasawa, Takanori Yasu

{"title":"Successful upfront combination therapy against pulmonary arterial hypertension associated with unilateral absence of the pulmonary artery: a case report.","authors":"Naoyuki Otani, Shoya Ono, Takushi Sugiyama, Hiroshi Harasawa, Takanori Yasu","doi":"10.1093/ehjcr/ytaf328","DOIUrl":"10.1093/ehjcr/ytaf328","url":null,"abstract":"Background: Unilateral absence of the pulmonary artery (UAPA), a rare congenital condition, is associated with pulmonary hypertension in 25% of cases.Case summary: A 67-year-old Japanese woman presented with UAPA and progressive severe pulmonary arterial hypertension. During hospitalization for acute coronary syndrome 8 years ago, the patient experienced apnoea. A polysomnography test confirmed obstructive sleep apnoea syndrome. Home oxygen therapy (1 L/min) and continuous night-time positive pressure breathing therapy were initiated. Dyspnoea on exertion gradually worsened 1 year ago. The estimated right ventricular systolic pressure (RVSP) on echocardiography was elevated (73 mmHg). She was urgently admitted with progressive dyspnoea (World Health Organization [WHO] class II to class IV) and marked hypoxaemia, even when receiving oxygen (3 L/min). Isolated left UAPA with severe pulmonary hypertension was diagnosed based on right heart catheterization (RHC). The patient declined continuous subcutaneous prostacyclin analogue injection. Therefore, triple therapy with macitentan (10 mg), selexipag (0.4 mg), and riociguat (3 mg) was initiated. However, RVSP remained high during the first 3 months. The selexipag dose was titrated to 3.2 mg/day over 6 months, which improved RVSP to 32 mmHg on echocardiography and the mean pulmonary artery pressure on RHC decreased to 39 mmHg. One year later, due to recurrent dyspnoea on light exertion, iloprost inhalation therapy was initiated. The patient has since progressed well, maintaining WHO class II during a 7-year follow-up period.Discussion: Prostacyclin inhalation combined with triple therapy can be an effective treatment strategy for patients with UAPA-associated pulmonary arterial hypertension.","PeriodicalId":11910,"journal":{"name":"European Heart Journal: Case Reports","volume":"9 7","pages":"ytaf328"},"PeriodicalIF":0.8,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12301618/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144728955","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}

引用次数: 0

Sarcoidosis presenting as a large intracardiac mass: a case report. 结节病表现为心脏内大肿块1例。

IF 0.8

European Heart Journal: Case Reports Pub Date : 2025-07-10 eCollection Date: 2025-07-01 DOI: 10.1093/ehjcr/ytaf318

Hideki Kawai, Yasuchika Kato, Masayoshi Sarai, Hiroyuki Naruse, Hideo Izawa

{"title":"Sarcoidosis presenting as a large intracardiac mass: a case report.","authors":"Hideki Kawai, Yasuchika Kato, Masayoshi Sarai, Hiroyuki Naruse, Hideo Izawa","doi":"10.1093/ehjcr/ytaf318","DOIUrl":"10.1093/ehjcr/ytaf318","url":null,"abstract":"Background: Sarcoidosis is a systemic granulomatous disease that occasionally affects the heart and poses the risks of arrhythmias, heart failure, and sudden cardiac death.Case summary: We report a rare case of cardiac sarcoidosis presenting as a large intracardiac mass in a 76-year-old woman that was incidentally detected during a health check-up. Transthoracic echocardiography revealed a 25× 33 mm mobile mass in the left atrium. Cardiac magnetic resonance and 18F-fluorodeoxyglucose positron emission tomography/computed tomography demonstrated heterogeneous enhancement and increased metabolic activity, respectively, raising the suspicion of cardiac sarcoidosis. Bronchoscopic biopsy confirmed the presence of epithelioid granulomas, supporting the diagnosis. Surgical resection was performed because of the size of the mass and the potential for mitral valve obstruction. Histopathology confirmed the presence of non-caseating granulomas consistent with sarcoidosis. Postoperatively, corticosteroid therapy with prednisolone (initially 30 mg/day, tapered to 5 mg/day) was initiated to treat the residual lesions identified on imaging. The residual mass showed regression, with resolution of inflammatory activity, through the use of steroid therapy during follow-up.Discussion: This case report highlights the diagnostic and therapeutic challenges associated with cardiac sarcoidosis presenting as a large intracardiac mass. Our findings underscore the importance of a multidisciplinary approach that utilises advanced imaging techniques, histological confirmation, and tailored management strategies that combine surgical intervention and immunosuppressive therapy for diagnosis and treatment.","PeriodicalId":11910,"journal":{"name":"European Heart Journal: Case Reports","volume":"9 7","pages":"ytaf318"},"PeriodicalIF":0.8,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12287918/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144706842","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}

引用次数: 0

Post-infarct effusive-constrictive pericarditis with a percutaneous left ventricular assist device: a case report. 梗死后积液性缩窄性心包炎伴经皮左心室辅助装置一例报告。

IF 0.8

European Heart Journal: Case Reports Pub Date : 2025-07-10 eCollection Date: 2025-07-01 DOI: 10.1093/ehjcr/ytaf326

Jonah Kan, Louise Asleson, Karla Inestroza, Dustin Hillerson, Jacob Jentzer

{"title":"Post-infarct effusive-constrictive pericarditis with a percutaneous left ventricular assist device: a case report.","authors":"Jonah Kan, Louise Asleson, Karla Inestroza, Dustin Hillerson, Jacob Jentzer","doi":"10.1093/ehjcr/ytaf326","DOIUrl":"10.1093/ehjcr/ytaf326","url":null,"abstract":"Background: Effusive-constrictive pericarditis (ECP) is a condition where acute pericarditis causes a pericardial effusion and stiffening of the pericardium, which can result in haemodynamic instability due to compression of right-sided cardiac chambers. Here, we present a patient with cardiac tamponade followed by ECP complicating treatment of acute myocardial infarction/cardiogenic shock supported with a percutaneous left ventricular assist device (PVAD).Case summary: A 65-year-old male presented with an anterior ST-elevation myocardial infarction and cardiogenic shock. The left anterior descending artery was stented, and a PVAD was placed. The patient was haemodynamically unstable, and the PVAD had frequent suction alarms at higher flow rates. Pulsus paradoxus was noted on the arterial line tracing. Echocardiography showed a large pericardial effusion, which was drained with improvement in cardiac output. However, the patient soon worsened again with continued PVAD suction alarms, and this time echocardiography demonstrated constrictive physiology. The patient was treated with anti-inflammatory medications with improvement in haemodynamics. The PVAD was able to be weaned, and the patient was discharged in stable condition.Discussion: Effusive-constrictive pericarditis is a syndrome exhibiting the physiology of both cardiac tamponade and constrictive pericarditis. Effusive-constrictive pericarditis should be considered in patients whose haemodynamics do not improve after pericardiocentesis. This patient had a PVAD placed, which relies on left ventricular preload to increase cardiac output. The numerous suction alarms encountered during this patient's intensive care unit course were likely due to ECP decreasing preload.","PeriodicalId":11910,"journal":{"name":"European Heart Journal: Case Reports","volume":"9 7","pages":"ytaf326"},"PeriodicalIF":0.8,"publicationDate":"2025-07-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12291163/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144728954","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}

引用次数: 0

Konno procedure for left-ventricular outflow-tract synovial sarcoma. Konno手术治疗左心室流出道滑膜肉瘤。

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European Heart Journal: Case Reports Pub Date : 2025-07-08 eCollection Date: 2025-07-01 DOI: 10.1093/ehjcr/ytaf320

Hisato Takagi

引用次数: 0

Arrhythmia versus Artefact. 心律失常与人工因素。

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European Heart Journal: Case Reports Pub Date : 2025-07-07 eCollection Date: 2025-07-01 DOI: 10.1093/ehjcr/ytaf294

Pujon Purkayastha

引用次数: 0

A textured clinical mosaic involving autoimmune calcific constrictive pericarditis: a case report. 自身免疫性钙化缩窄性心包炎的纹理性临床马赛克1例报告。

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European Heart Journal: Case Reports Pub Date : 2025-07-03 eCollection Date: 2025-07-01 DOI: 10.1093/ehjcr/ytaf301

Michele Bertelli, Luca Bergamaschi, Matteo Armillotta, Francesco Angeli, Carmine Pizzi

{"title":"A textured clinical mosaic involving autoimmune calcific constrictive pericarditis: a case report.","authors":"Michele Bertelli, Luca Bergamaschi, Matteo Armillotta, Francesco Angeli, Carmine Pizzi","doi":"10.1093/ehjcr/ytaf301","DOIUrl":"10.1093/ehjcr/ytaf301","url":null,"abstract":"Background: Constrictive pericarditis is a rare condition whereby chronic pericardial inflammation leads to pericardial stiffening and predominantly right-sided heart failure. While idiopathic and infectious forms are most common, autoimmune causes may be involved with often elusive disease manifestations.Case summary: A 34-year-old woman presented with severe right-sided heart failure and atrial fibrillation secondary to rapidly progressive calcific constrictive pericarditis following preterm delivery due to placenta previa. Given the refractoriness to medical therapy and dependence on i.v. diuretic therapy, surgical pericardiectomy was performed without any clinical benefit (prompt heart failure relapse). Further tests revealed a mosaic of multiorgan manifestations (alveolar haemorrhage, pleuritis, factor XI deficiency, altered lymphocyte subpopulations, cutaneous nodules demonstrating Koebner's phenomenon, placental vasculopathy causing miscarriage and preterm delivery), which ultimately led to the diagnosis of systemic lupus erythematosus (SLE). Instatement of immunosuppression (corticosteroid initially, subsequently substituted by mycophenolate) led to the resolution of constriction and other disease manifestations at 18-month follow-up.Discussion: This case of SLE presenting with advanced calcific constrictive pericarditis demonstrates the crucial role played by aetiological diagnosis in constrictive pericarditis. It also exemplifies the often-subtle nature of extra-cardiac manifestations in autoimmune processes, particularly in SLE, which may lead to significant diagnostic uncertainty and delay in the instatement of disease-specific therapy. The benefits of the latter are manifest in this case as the introduction of mycophenolate determined a complete reversal of constrictive physiology despite refractoriness to surgical pericardiectomy.","PeriodicalId":11910,"journal":{"name":"European Heart Journal: Case Reports","volume":"9 7","pages":"ytaf301"},"PeriodicalIF":0.8,"publicationDate":"2025-07-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12247502/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144625634","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}

引用次数: 0

Percutaneous treatment of multivalvular heart disease following previous sternotomy. 胸骨切开后多瓣心脏病的经皮治疗。

IF 0.8

European Heart Journal: Case Reports Pub Date : 2025-07-02 eCollection Date: 2025-07-01 DOI: 10.1093/ehjcr/ytaf317

Denizhan Ozdemir, Hasan Jilaihawi, Moody Makar, Raj Makkar

引用次数: 0