Journal of Cardiology Cases最新文献_第8页

SCN5A mutation-associated sick sinus syndrome revealed by atrial flutter in a pediatric patient 由心房扑动揭示的小儿SCN5A突变相关病窦综合征

Q4 Medicine

Journal of Cardiology Cases

Pub Date : 2025-07-01 DOI: 10.1016/j.jccase.2025.03.001

Yoshikatsu Takeda MD , Shuhei Fujita MD, PhD , Yusuke Yachi MD , Mariko Honda MD , Mayu Iwata MD , Naoto Sakumura MD, PhD , Kazuyuki Ueno MD, PhD , Kengo Miyashita MD, PhD , Takeshi Futatani MD, PhD , Keisuke Usuda MD, PhD , Akio Chikata MD, PhD , Kazuo Usuda MD, PhD, FJCC , Keigo Nishida MD , Raita Araki MD, PhD , Koichi Kato MD, PhD , Seiko Ohno MD, PhD

Atrial flutter (AFL) is uncommon in children without underlying heart disease. This report details the case of a 7-year-old boy with AFL detected during school electrocardiogram (ECG) screening. He had no prior arrhythmias, congenital heart disease, or cardiomyopathy. Initial evaluations showed AFL with right bundle branch block but no structural heart abnormalities. Radiofrequency catheter ablation (RFCA) was performed, initially resolving the AFL but resulting in a 13-s sinus arrest requiring atrial pacing. Post-RFCA, the patient experienced a sinus arrest lasting up to 7 s, leading to a diagnosis of sick sinus syndrome (SSS). A second RFCA was needed due to AFL recurrence, and post-ablation ECGs revealed saddleback-type ST-segment elevation and Brugada-type patterns, raising suspicion of Brugada syndrome (BrS). Genetic testing identified a loss-of-function (LOF) SCN5A variant (c.2678G > A p.R893H) in the patient, his mother, and his sister. This case underscores that AFL in children without structural heart disease, especially when associated with SSS, may be linked to LOF SCN5A variants, which are also associated with BrS.

Learning objective

Atrial flutter in children without structural heart disease can be linked to genetic factors with Brugada syndrome (BrS). This case highlights the importance of thorough diagnostic evaluation, including family history and genetic testing, when rare arrhythmias are present. Early detection of BrS through detailed electrocardiographic findings and family screening can help identify at-risk individuals and guide appropriate management to prevent serious arrhythmias and sudden cardiac death.

心房扑动（AFL）是罕见的儿童无潜在的心脏疾病。本报告详细介绍了一名7岁男孩在学校心电图（ECG）筛查时发现AFL的病例。既往无心律失常、先天性心脏病或心肌病。初步评估显示AFL伴右束支阻滞，但无结构性心脏异常。进行射频导管消融（RFCA），最初解决了AFL，但导致13秒的窦性骤停，需要心房起搏。rfca后，患者经历了长达7 s的窦停搏，导致诊断为病态窦综合征（SSS）。由于AFL复发，需要进行第二次RFCA，消融后心电图显示鞍背型st段抬高和Brugada型，引起Brugada综合征（BrS）的怀疑。基因检测在患者及其母亲和妹妹中发现了一种功能缺失（LOF） SCN5A变异（c.2678G >； a p.R893H）。该病例强调，无结构性心脏病儿童的AFL，特别是与SSS相关的AFL，可能与LOF SCN5A变异有关，而LOF SCN5A变异也与BrS相关。学习目的无结构性心脏病儿童心房扑动与Brugada综合征（BrS）的遗传因素有关。这个病例强调了彻底的诊断评估的重要性，包括家族史和基因检测，当罕见的心律失常存在。通过详细的心电图检查和家庭筛查，早期发现BrS有助于识别高危人群，并指导适当的管理，以预防严重心律失常和心源性猝死。

{"title":"SCN5A mutation-associated sick sinus syndrome revealed by atrial flutter in a pediatric patient","authors":"Yoshikatsu Takeda MD , Shuhei Fujita MD, PhD , Yusuke Yachi MD , Mariko Honda MD , Mayu Iwata MD , Naoto Sakumura MD, PhD , Kazuyuki Ueno MD, PhD , Kengo Miyashita MD, PhD , Takeshi Futatani MD, PhD , Keisuke Usuda MD, PhD , Akio Chikata MD, PhD , Kazuo Usuda MD, PhD, FJCC , Keigo Nishida MD , Raita Araki MD, PhD , Koichi Kato MD, PhD , Seiko Ohno MD, PhD","doi":"10.1016/j.jccase.2025.03.001","DOIUrl":"10.1016/j.jccase.2025.03.001","url":null,"abstract":"<div><div>Atrial flutter (AFL) is uncommon in children without underlying heart disease. This report details the case of a 7-year-old boy with AFL detected during school electrocardiogram (ECG) screening. He had no prior arrhythmias, congenital heart disease, or cardiomyopathy. Initial evaluations showed AFL with right bundle branch block but no structural heart abnormalities. Radiofrequency catheter ablation (RFCA) was performed, initially resolving the AFL but resulting in a 13-s sinus arrest requiring atrial pacing. Post-RFCA, the patient experienced a sinus arrest lasting up to 7 s, leading to a diagnosis of sick sinus syndrome (SSS). A second RFCA was needed due to AFL recurrence, and post-ablation ECGs revealed saddleback-type ST-segment elevation and Brugada-type patterns, raising suspicion of Brugada syndrome (BrS). Genetic testing identified a loss-of-function (LOF) SCN5A variant (c.2678G > A p.R893H) in the patient, his mother, and his sister. This case underscores that AFL in children without structural heart disease, especially when associated with SSS, may be linked to LOF SCN5A variants, which are also associated with BrS.</div></div><div><h3>Learning objective</h3><div>Atrial flutter in children without structural heart disease can be linked to genetic factors with Brugada syndrome (BrS). This case highlights the importance of thorough diagnostic evaluation, including family history and genetic testing, when rare arrhythmias are present. Early detection of BrS through detailed electrocardiographic findings and family screening can help identify at-risk individuals and guide appropriate management to prevent serious arrhythmias and sudden cardiac death.</div></div>","PeriodicalId":52092,"journal":{"name":"Journal of Cardiology Cases","volume":"32 1","pages":"Pages 5-9"},"PeriodicalIF":0.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144517728","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Rescue balloon pulmonary angioplasty in patients with low cardiac output syndrome due to chronic thromboembolic pulmonary hypertension: A case series 慢性血栓栓塞性肺动脉高压引起的低心输出量综合征患者的球囊肺血管成形术：一个病例系列

Q4 Medicine

Journal of Cardiology Cases

Pub Date : 2025-07-01 DOI: 10.1016/j.jccase.2025.03.007

Yoshitake Fukuda MD, Hiroto Shimokawahara MD, PhD, Ayane Miyagi MD, Chiaki Goten MD, PhD, Hirofumi Okada MD, PhD, Hiromi Matsubara MD, PhD

Balloon pulmonary angioplasty (BPA) is an effective treatment for patients with chronic thromboembolic pulmonary hypertension (CTEPH) who are ineligible for pulmonary endarterectomy. However, the treatment approach for patients with cardiogenic shock or refractory heart failure due to low cardiac output syndrome (LCOS) remains unclear, with limited studies on the efficacy and safety of rescue BPA in this population. Between 2011 and 2023, we performed rescue BPA on nine patients with CTEPH: two experienced severe CTEPH requiring extracorporeal membrane oxygenation or ventilator support due to complications from acute pulmonary embolism. Three had progressively worsening or drug-resistant right heart failure, three had syncope, and one had frequent ventricular tachycardia. Prior to BPA, cardiac indexes were below 2.0 L/min/m² without mechanical and inotropic support, and symptoms were likely related to LCOS. Although one patient died following BPA, the others experienced immediate hemodynamic improvements after the first BPA and were discharged alive. Rescue BPA may be a safe and effective treatment option for hemodynamically compromised patients with CTEPH and concomitant LCOS.

Learning objectives

Rescue balloon pulmonary angioplasty (BPA) improves hemodynamics and facilitates the withdrawal of mechanical and inotropic support for cardiogenic shock or worsening right heart failure in patients with chronic thromboembolic pulmonary hypertension. Rescue BPA may be a viable treatment option for hemodynamically compromised patients due to low cardiac output syndrome. However, given that these patients are at higher risk for complications, rescue BPA should be performed in specialized centers.

球囊肺血管成形术（BPA）是一种有效的治疗慢性血栓栓塞性肺动脉高压（CTEPH）患者谁不适合肺动脉内膜切除术。然而，对于低心输出量综合征（LCOS）致心源性休克或难治性心力衰竭患者的治疗方法尚不清楚，关于双酚a在这一人群中的疗效和安全性的研究有限。在2011年至2023年期间，我们对9例CTEPH患者进行了双酚a抢救：其中2例因急性肺栓塞并发症而出现严重CTEPH，需要体外膜氧合或呼吸机支持。3例逐渐恶化或耐药右心衰，3例晕厥，1例频繁室性心动过速。双酚a治疗前，无机械和肌力支持，心脏指数低于2.0 L/min/m2，症状可能与LCOS有关。虽然有一名患者在BPA后死亡，但其他患者在第一次BPA后血液动力学立即得到改善，并活着出院。对于血流动力学受损的CTEPH合并LCOS患者，抢救双酚a可能是一种安全有效的治疗选择。学习目标抢救球囊肺血管成形术（BPA）改善了慢性血栓栓塞性肺动脉高压患者的血流动力学，促进了对心源性休克或恶化的右心衰患者的机械和肌力支持的退出。抢救双酚a可能是一种可行的治疗方案，血流动力学受损的患者由于低心输出量综合征。然而，考虑到这些患者发生并发症的风险较高，抢救双酚a应在专门的中心进行。

{"title":"Rescue balloon pulmonary angioplasty in patients with low cardiac output syndrome due to chronic thromboembolic pulmonary hypertension: A case series","authors":"Yoshitake Fukuda MD, Hiroto Shimokawahara MD, PhD, Ayane Miyagi MD, Chiaki Goten MD, PhD, Hirofumi Okada MD, PhD, Hiromi Matsubara MD, PhD","doi":"10.1016/j.jccase.2025.03.007","DOIUrl":"10.1016/j.jccase.2025.03.007","url":null,"abstract":"<div><div>Balloon pulmonary angioplasty (BPA) is an effective treatment for patients with chronic thromboembolic pulmonary hypertension (CTEPH) who are ineligible for pulmonary endarterectomy. However, the treatment approach for patients with cardiogenic shock or refractory heart failure due to low cardiac output syndrome (LCOS) remains unclear, with limited studies on the efficacy and safety of rescue BPA in this population. Between 2011 and 2023, we performed rescue BPA on nine patients with CTEPH: two experienced severe CTEPH requiring extracorporeal membrane oxygenation or ventilator support due to complications from acute pulmonary embolism. Three had progressively worsening or drug-resistant right heart failure, three had syncope, and one had frequent ventricular tachycardia. Prior to BPA, cardiac indexes were below 2.0 L/min/m<sup>2</sup> without mechanical and inotropic support, and symptoms were likely related to LCOS. Although one patient died following BPA, the others experienced immediate hemodynamic improvements after the first BPA and were discharged alive. Rescue BPA may be a safe and effective treatment option for hemodynamically compromised patients with CTEPH and concomitant LCOS.</div></div><div><h3>Learning objectives</h3><div>Rescue balloon pulmonary angioplasty (BPA) improves hemodynamics and facilitates the withdrawal of mechanical and inotropic support for cardiogenic shock or worsening right heart failure in patients with chronic thromboembolic pulmonary hypertension. Rescue BPA may be a viable treatment option for hemodynamically compromised patients due to low cardiac output syndrome. However, given that these patients are at higher risk for complications, rescue BPA should be performed in specialized centers.</div></div>","PeriodicalId":52092,"journal":{"name":"Journal of Cardiology Cases","volume":"32 1","pages":"Pages 15-18"},"PeriodicalIF":0.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144518208","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

A case of congenital type 1 long QT syndrome which developed electrical storm with myocarditis 先天性1型长QT综合征并发电风暴并发心肌炎1例

Q4 Medicine

Journal of Cardiology Cases

Pub Date : 2025-07-01 DOI: 10.1016/j.jccase.2025.03.009

Shugo Yamada MD, Shohei Ikeda MD, PhD, Koichi Sato MD, PhD, Mariko Shinozaki MD, Keita Miki MD, PhD, Michinori Hirano MD, PhD, Koji Fukuda MD, PhD, FJCC, Morihiko Takeda MD, PhD

This case report presents a 39-year-old woman with congenital type 1 long QT syndrome (LQT1) who was transported to the hospital after syncope. She had no previous history of syncope or ventricular fibrillation, but had a family history of LQT1 without sudden death. On arrival, she had regained consciousness with stable vital signs, although she reported cold symptoms starting a week previously. An electrocardiogram showed a prolonged QTc interval of 618 ms, and echocardiography revealed severe left ventricular dysfunction with an ejection fraction (EF) of approximately 15 %. She suddenly developed torsades de pointes and lost consciousness again, progressing to an electrical storm requiring repeated defibrillation. Emergency coronary angiography showed no stenosis, and right heart catheterization revealed hemodynamic parameters consistent with Forrester classification III. A myocardial biopsy from the right ventricular septum was performed due to suspected myocarditis. Treatment included sedation, mechanical ventilation, catecholamines, and intra-aortic balloon pump, stabilizing her hemodynamics. Pathological findings confirmed inflammatory cell infiltration in the myocardium. Her EF returned to normal within approximately two weeks. This report discusses an unusual case of electrical storm in LQT1 triggered by myocarditis, with a full recovery achieved.

Learning objective

This case emphasizes that careful management is required for patients with type 1 long QT (LQT1) syndrome. Despite guideline-based management, this case developed an electrical storm triggered by myocarditis as a cardiac event. This case suggests the need to re-evaluate the implantable cardioverter defibrillator implantation criteria for high-risk LQT1 cases.

本病例报告提出一名患有先天性1型长QT综合征（LQT1）的39岁女性，在晕厥后被送往医院。患者既往无晕厥或室颤病史，但有LQT1家族史，无猝死。抵达时，她恢复了意识，生命体征稳定，尽管她在一周前就报告了感冒症状。心电图显示QTc间期延长618 ms，超声心动图显示严重的左心室功能障碍，射血分数（EF）约为15 %。她突然出现关节扭转，再次失去意识，发展到需要反复除颤的电风暴。急诊冠状动脉造影显示无狭窄，右心导管造影显示血流动力学参数符合Forrester分类III。疑似心肌炎，行右室间隔心肌活检。治疗包括镇静、机械通气、儿茶酚胺和主动脉内球囊泵，稳定血流动力学。病理证实心肌有炎性细胞浸润。她的EF在大约两周内恢复正常。本报告讨论了一例由心肌炎引发的LQT1电风暴的罕见病例，并获得了完全恢复。学习目的：本病例强调1型长QT综合征（LQT1）患者需要谨慎治疗。尽管有基于指南的治疗，该病例发展为心肌炎引发的电风暴作为心脏事件。本病例提示有必要重新评估高危LQT1病例的植入式心律转复除颤器植入标准。

{"title":"A case of congenital type 1 long QT syndrome which developed electrical storm with myocarditis","authors":"Shugo Yamada MD, Shohei Ikeda MD, PhD, Koichi Sato MD, PhD, Mariko Shinozaki MD, Keita Miki MD, PhD, Michinori Hirano MD, PhD, Koji Fukuda MD, PhD, FJCC, Morihiko Takeda MD, PhD","doi":"10.1016/j.jccase.2025.03.009","DOIUrl":"10.1016/j.jccase.2025.03.009","url":null,"abstract":"<div><div>This case report presents a 39-year-old woman with congenital type 1 long QT syndrome (LQT1) who was transported to the hospital after syncope. She had no previous history of syncope or ventricular fibrillation, but had a family history of LQT1 without sudden death. On arrival, she had regained consciousness with stable vital signs, although she reported cold symptoms starting a week previously. An electrocardiogram showed a prolonged QTc interval of 618 ms, and echocardiography revealed severe left ventricular dysfunction with an ejection fraction (EF) of approximately 15 %. She suddenly developed torsades de pointes and lost consciousness again, progressing to an electrical storm requiring repeated defibrillation. Emergency coronary angiography showed no stenosis, and right heart catheterization revealed hemodynamic parameters consistent with Forrester classification III. A myocardial biopsy from the right ventricular septum was performed due to suspected myocarditis. Treatment included sedation, mechanical ventilation, catecholamines, and intra-aortic balloon pump, stabilizing her hemodynamics. Pathological findings confirmed inflammatory cell infiltration in the myocardium. Her EF returned to normal within approximately two weeks. This report discusses an unusual case of electrical storm in LQT1 triggered by myocarditis, with a full recovery achieved.</div></div><div><h3>Learning objective</h3><div>This case emphasizes that careful management is required for patients with type 1 long QT (LQT1) syndrome. Despite guideline-based management, this case developed an electrical storm triggered by myocarditis as a cardiac event. This case suggests the need to re-evaluate the implantable cardioverter defibrillator implantation criteria for high-risk LQT1 cases.</div></div>","PeriodicalId":52092,"journal":{"name":"Journal of Cardiology Cases","volume":"32 1","pages":"Pages 27-30"},"PeriodicalIF":0.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144518211","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Diagnostic delay in patients diagnosed with Lyme carditis presenting with cardiac symptoms 出现心脏症状的莱姆病患者的诊断延迟

Q4 Medicine

Journal of Cardiology Cases

Pub Date : 2025-07-01 DOI: 10.1016/j.jccase.2025.03.011

Jon Are Sørås MD , Gard Frodahl Tveitevåg Svingen MD, PhD , Terje H. Larsen MD, PhD , Håvard Keilegavlen MD, PhD , Trygve Kristiansen MD , Øystein Wendelbo MD, PhD

In this case report, we describe two previously healthy young males who presented with cardiac symptoms suggestive of Lyme carditis (LC). LC-associated arrhythmia is a potentially fatal complication of Lyme disease, which typically occurs during the early disseminated and late stages. In high endemic areas a high degree of suspicion is vital to avoid misdiagnosis and delayed treatment, and to prevent long-term complications of disseminated infection and potentially fatal outcome.

Learning objective

Lyme carditis (LC) can present with a wide array of symptoms. The following two cases illustrate the diverse clinical manifestations of LC, as well as the potential for ‘doctor's delay’ in diagnosing patients with LC.

在这个病例报告中，我们描述了两个以前健康的年轻男性谁提出了心脏症状提示莱姆病（LC）。 lc相关性心律失常是莱姆病潜在的致命并发症，通常发生在早期播散和晚期。在高流行地区，高度怀疑对于避免误诊和延误治疗以及防止播散性感染的长期并发症和可能致命的后果至关重要。学习目的肺心病（LC）可表现为多种症状。以下两个病例说明了LC的多种临床表现，以及“医生延误”诊断LC患者的可能性。

引用次数: 0

Isolated right ventricular infarction – Unmasking the masquerader 孤立性右心室梗死-揭开伪装者的面纱

Q4 Medicine

Journal of Cardiology Cases

Pub Date : 2025-07-01 DOI: 10.1016/j.jccase.2025.04.005

Srista Manandhar MBBS, Sunit Chhetri MBBS, Jordan Tannenbaum MD, Manrique Alvarez MD, Yashashwi Pokharel MD, MSCR

Right ventricular (RV) infarction is commonly associated with left ventricular (LV) myocardial infarction. Isolated RV infarction is a rare entity and the diagnosis is challenging. We present a case of a 65-year-old man with non-ST elevation myocardial infarction without obvious culprit obstructive coronary artery disease on coronary angiogram. There was late gadolinium enhancement (LGE) of RV free wall without LGE of the LV in magnetic resonance imaging (MRI) which helped in diagnosing isolated RV infarction. On follow up, the patient’s RV dysfunction normalized on echocardiogram. Our case shows the importance of cardiac MRI in the diagnosis of isolated RV infarction and that it can have a good prognosis.

Learning objectives

Diagnosis of isolated right ventricular (RV) infarction needs high degree of suspicion especially in absence of hemodynamic findings. Late gadolinium enhancement in cardiac magnetic resonance imaging can help diagnose RV infarction when there is diagnostic uncertainty. Early therapy helps in RV recovery.

右心室（RV）梗死通常与左心室（LV）心肌梗死相关。孤立性右心室梗死是一种罕见的实体，诊断具有挑战性。我们报告一例65岁男性非st段抬高型心肌梗死，冠状动脉造影无明显的罪魁祸首阻塞性冠状动脉疾病。磁共振成像（MRI）显示左室游离壁晚期钆增强（LGE），但无左室的LGE，有助于诊断孤立性左室梗死。随访中，超声心动图显示患者右心室功能障碍恢复正常。我们的病例显示了心脏MRI在诊断孤立性右心室梗死中的重要性，它可以有良好的预后。学习目的孤立性右心室（RV）梗死的诊断需要高度的怀疑，特别是在没有血流动力学结果的情况下。在诊断不确定的情况下，心脏磁共振成像晚期钆增强有助于诊断右室梗死。早期治疗有助于RV恢复。

{"title":"Isolated right ventricular infarction – Unmasking the masquerader","authors":"Srista Manandhar MBBS, Sunit Chhetri MBBS, Jordan Tannenbaum MD, Manrique Alvarez MD, Yashashwi Pokharel MD, MSCR","doi":"10.1016/j.jccase.2025.04.005","DOIUrl":"10.1016/j.jccase.2025.04.005","url":null,"abstract":"<div><div>Right ventricular (RV) infarction is commonly associated with left ventricular (LV) myocardial infarction. Isolated RV infarction is a rare entity and the diagnosis is challenging. We present a case of a 65-year-old man with non-ST elevation myocardial infarction without obvious culprit obstructive coronary artery disease on coronary angiogram. There was late gadolinium enhancement (LGE) of RV free wall without LGE of the LV in magnetic resonance imaging (MRI) which helped in diagnosing isolated RV infarction. On follow up, the patient’s RV dysfunction normalized on echocardiogram. Our case shows the importance of cardiac MRI in the diagnosis of isolated RV infarction and that it can have a good prognosis.</div></div><div><h3>Learning objectives</h3><div>Diagnosis of isolated right ventricular (RV) infarction needs high degree of suspicion especially in absence of hemodynamic findings. Late gadolinium enhancement in cardiac magnetic resonance imaging can help diagnose RV infarction when there is diagnostic uncertainty. Early therapy helps in RV recovery.</div></div>","PeriodicalId":52092,"journal":{"name":"Journal of Cardiology Cases","volume":"32 1","pages":"Pages 36-38"},"PeriodicalIF":0.0,"publicationDate":"2025-07-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144518213","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Severe cibenzoline toxicity in hypertrophic obstructive cardiomyopathy successfully managed with extracorporeal membrane oxygenation and percutaneous transluminal septal myocardial ablation — A case report 经体外膜氧合和经皮腔内心肌消融术成功治疗肥厚性梗阻性心肌病的严重苯并啉中毒1例报告

Q4 Medicine

Journal of Cardiology Cases

Pub Date : 2025-06-01 DOI: 10.1016/j.jccase.2025.02.006

Hiroto Yagasaki MD , Takeki Suzuki MD, MPH, PhD , Keitaro Watanabe MD , Shunichiro Warita MD, PhD , Makoto Iwama MD, PhD , Toshiyuki Noda MD, PhD, FJCC

Cibenzoline (CBZ), a class I antiarrhythmic drug, is used for patients with hypertrophic obstructive cardiomyopathy (HOCM). However, it requires careful monitoring in patients with renal dysfunction for potential toxicity. We present a case of severe CBZ toxicity in a 72-year-old woman with HOCM, previous ascending aortic dissection repair, and renal dysfunction. She was maintained on CBZ 300 mg daily despite fluctuating renal function. She presented with acute respiratory distress. On presentation, she was found to have bradycardia with QRS prolongation (340 ms) and markedly elevated CBZ levels (1973 ng/mL, therapeutic range: 200–800 ng/mL). She developed sudden cardiac arrest in the emergency room. Following cardiac arrest, venoarterial extracorporeal membrane oxygenation (VA-ECMO) was initiated. Direct hemoperfusion yielded minimal reduction in CBZ levels. With increased urine output, CBZ levels normalized, accompanied by electrocardiographic improvement. After VA-ECMO withdrawal, percutaneous transluminal septal myocardial ablation (PTSMA) was performed as definitive treatment to eliminate CBZ dependency. This case illustrates the complex interaction between HOCM, renal impairment, and CBZ toxicity, emphasizing the importance of careful drug monitoring in patients with renal impairment. Additionally, it demonstrates the potential role of PTSMA as a definitive treatment for selected patients with HOCM at high risk of medication-related complications.

Learning objectives

•
Understand the pharmacokinetics of cibenzoline and its need for monitoring in elderly patients with hypertrophic obstructive cardiomyopathy (HOCM) and impaired renal function.
•
Recognize the mechanisms of cibenzoline toxicity and its acute management strategies, including mechanical circulatory support and direct hemoperfusion.
•
Identify the acute management strategies and long-term treatment options for complications arising from medical therapy in patients with HOCM.

Cibenzoline （CBZ）是一类抗心律失常药物，用于肥厚性梗阻性心肌病（HOCM）患者。然而，需要仔细监测肾功能不全患者的潜在毒性。我们报告一例严重的CBZ毒性的72岁女性HOCM，既往升主动脉夹层修复，肾功能不全。尽管肾功能波动，仍维持每日cbz300 毫克。她表现出急性呼吸窘迫。在就诊时，发现患者心动过缓，QRS延长（340 ms）， CBZ水平明显升高（1973 ng/mL，治疗范围：200-800 ng/mL）。她在急诊室突发心脏骤停。心脏骤停后，开始静脉-体外膜氧合（VA-ECMO）。直接血液灌流使CBZ水平降低最小。随着尿量的增加，CBZ水平恢复正常，并伴有心电图改善。VA-ECMO退出后，经皮腔内室间隔心肌消融（PTSMA）作为消除CBZ依赖的最终治疗。本病例说明了HOCM、肾损害和CBZ毒性之间复杂的相互作用，强调了肾损害患者仔细监测药物的重要性。此外，它证明了PTSMA作为HOCM患者在药物相关并发症高风险的最终治疗的潜在作用。•了解苯并啉的药代动力学及其对老年肥厚性阻塞性心肌病（HOCM）和肾功能受损患者监测的必要性。•认识苯并啉毒性的机制及其急性管理策略，包括机械循环支持和直接血液灌流。•确定HOCM患者药物治疗引起的并发症的急性管理策略和长期治疗方案。

{"title":"Severe cibenzoline toxicity in hypertrophic obstructive cardiomyopathy successfully managed with extracorporeal membrane oxygenation and percutaneous transluminal septal myocardial ablation — A case report","authors":"Hiroto Yagasaki MD , Takeki Suzuki MD, MPH, PhD , Keitaro Watanabe MD , Shunichiro Warita MD, PhD , Makoto Iwama MD, PhD , Toshiyuki Noda MD, PhD, FJCC","doi":"10.1016/j.jccase.2025.02.006","DOIUrl":"10.1016/j.jccase.2025.02.006","url":null,"abstract":"<div><div>Cibenzoline (CBZ), a class I antiarrhythmic drug, is used for patients with hypertrophic obstructive cardiomyopathy (HOCM). However, it requires careful monitoring in patients with renal dysfunction for potential toxicity. We present a case of severe CBZ toxicity in a 72-year-old woman with HOCM, previous ascending aortic dissection repair, and renal dysfunction. She was maintained on CBZ 300 mg daily despite fluctuating renal function. She presented with acute respiratory distress. On presentation, she was found to have bradycardia with QRS prolongation (340 ms) and markedly elevated CBZ levels (1973 ng/mL, therapeutic range: 200–800 ng/mL). She developed sudden cardiac arrest in the emergency room. Following cardiac arrest, venoarterial extracorporeal membrane oxygenation (VA-ECMO) was initiated. Direct hemoperfusion yielded minimal reduction in CBZ levels. With increased urine output, CBZ levels normalized, accompanied by electrocardiographic improvement. After VA-ECMO withdrawal, percutaneous transluminal septal myocardial ablation (PTSMA) was performed as definitive treatment to eliminate CBZ dependency. This case illustrates the complex interaction between HOCM, renal impairment, and CBZ toxicity, emphasizing the importance of careful drug monitoring in patients with renal impairment. Additionally, it demonstrates the potential role of PTSMA as a definitive treatment for selected patients with HOCM at high risk of medication-related complications.</div></div><div><h3>Learning objectives</h3><div><ul><li><span>•</span><span><div>Understand the pharmacokinetics of cibenzoline and its need for monitoring in elderly patients with hypertrophic obstructive cardiomyopathy (HOCM) and impaired renal function.</div></span></li><li><span>•</span><span><div>Recognize the mechanisms of cibenzoline toxicity and its acute management strategies, including mechanical circulatory support and direct hemoperfusion.</div></span></li><li><span>•</span><span><div>Identify the acute management strategies and long-term treatment options for complications arising from medical therapy in patients with HOCM.</div></span></li></ul></div></div>","PeriodicalId":52092,"journal":{"name":"Journal of Cardiology Cases","volume":"31 6","pages":"Pages 158-161"},"PeriodicalIF":0.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144184695","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Sudden cardiac death unveiling a mitral annular disjunction in a young man: The role of multimodal cardiac imaging for diagnosis 一位年轻人心脏猝死，二尖瓣环分离：多模态心脏成像在诊断中的作用

Q4 Medicine

Journal of Cardiology Cases

Pub Date : 2025-06-01 DOI: 10.1016/j.jccase.2025.03.004

Waly Niang Mboup MD, Clément N'guyen Ngok MD, Jean-François Riviere MD, Nicolas Delarche MD

Non-ischemic structural heart diseases, such as mitral annular disjunction (MAD) and/or mitral valve prolapse (MVP), are known to increase the risk of arrhythmias and sudden cardiac death (SCD). We report a rare case of SCD in a young patient, secondary to ventricular fibrillation, revealing a MAD. A 20-year-old man was admitted to our hospital after a sudden cardiac arrest at home. Immediate cardiopulmonary resuscitation was initiated with chest compressions. Semi-automatic defibrillator tracings demonstrated ventricular fibrillation, and three rounds of defibrillation were performed with return of spontaneous circulation within approximately 15 min. Electrocardiogram showed T-wave inversion in inferior-lateral leads. Transthoracic echocardiography and cardiac magnetic resonance imaging revealed a MAD and a bileaflet MVP without obvious valve regurgitation. The patient was diagnosed with ventricular fibrillation, likely resulting from MAD. He was initiated on a daily regimen of bisoprolol and received a subcutaneous implantable cardioverter-defibrillator. In-hospital evolution was favorable. Cognitive impairment was noted, leading to a referral for rehabilitation. In conclusion, this case involves a cardiac arrest likely caused by valvular heart disease. Multimodal cardiac imaging contribution is fundamental in the diagnosis of MAD with MVP, which is an uncommon cause of cardiac arrest.

Learning objectives

This case highlights the utility of multimodal cardiac imaging in mitral annular disjunction (MAD) diagnosis and the management of emergency care. Isolated MAD is not an indication for implantable cardioverter-defibrillator (ICD) placement, but the sudden death due to ventricular fibrillation that was recovered in this patient makes the implantation of a prophylactic ICD worth considering.

非缺血性结构性心脏病，如二尖瓣环分离（MAD）和/或二尖瓣脱垂（MVP），已知会增加心律失常和心源性猝死（SCD）的风险。我们报告一个罕见的SCD病例在一个年轻的病人，继发于心室颤动，揭示一个MAD。一名20岁男子在家中突发心脏骤停后入院。立即进行了心肺复苏和胸部按压。半自动除颤器示踪显示心室颤动，进行了三轮除颤，大约15 min内恢复了自发循环。心电图示下外侧导联t波反转。经胸超声心动图和心脏磁共振成像显示一个MAD和一个双小瓣膜MVP，没有明显的瓣膜反流。患者被诊断为心室颤动，可能是由MAD引起的。他开始每日服用比索洛尔，并接受皮下植入式心律转复除颤器。医院内的进化是有利的。注意到认知障碍，导致转介康复。总之，本病例可能是由瓣膜性心脏病引起的心脏骤停。多模式心脏成像的贡献是基础的诊断MAD与MVP，这是一个罕见的心脏骤停的原因。学习目的本病例强调了多模态心脏成像在二尖瓣环分离（MAD）诊断和急诊护理管理中的应用。孤立性MAD并不是植入式心律转复除颤器（ICD）的指征，但该患者因心室颤动而猝死的恢复使得预防性ICD的植入术值得考虑。

{"title":"Sudden cardiac death unveiling a mitral annular disjunction in a young man: The role of multimodal cardiac imaging for diagnosis","authors":"Waly Niang Mboup MD, Clément N'guyen Ngok MD, Jean-François Riviere MD, Nicolas Delarche MD","doi":"10.1016/j.jccase.2025.03.004","DOIUrl":"10.1016/j.jccase.2025.03.004","url":null,"abstract":"<div><div>Non-ischemic structural heart diseases, such as mitral annular disjunction (MAD) and/or mitral valve prolapse (MVP), are known to increase the risk of arrhythmias and sudden cardiac death (SCD). We report a rare case of SCD in a young patient, secondary to ventricular fibrillation, revealing a MAD. A 20-year-old man was admitted to our hospital after a sudden cardiac arrest at home. Immediate cardiopulmonary resuscitation was initiated with chest compressions. Semi-automatic defibrillator tracings demonstrated ventricular fibrillation, and three rounds of defibrillation were performed with return of spontaneous circulation within approximately 15 min. Electrocardiogram showed T-wave inversion in inferior-lateral leads. Transthoracic echocardiography and cardiac magnetic resonance imaging revealed a MAD and a bileaflet MVP without obvious valve regurgitation. The patient was diagnosed with ventricular fibrillation, likely resulting from MAD. He was initiated on a daily regimen of bisoprolol and received a subcutaneous implantable cardioverter-defibrillator. In-hospital evolution was favorable. Cognitive impairment was noted, leading to a referral for rehabilitation. In conclusion, this case involves a cardiac arrest likely caused by valvular heart disease. Multimodal cardiac imaging contribution is fundamental in the diagnosis of MAD with MVP, which is an uncommon cause of cardiac arrest.</div></div><div><h3>Learning objectives</h3><div>This case highlights the utility of multimodal cardiac imaging in mitral annular disjunction (MAD) diagnosis and the management of emergency care. Isolated MAD is not an indication for implantable cardioverter-defibrillator (ICD) placement, but the sudden death due to ventricular fibrillation that was recovered in this patient makes the implantation of a prophylactic ICD worth considering.</div></div>","PeriodicalId":52092,"journal":{"name":"Journal of Cardiology Cases","volume":"31 6","pages":"Pages 186-188"},"PeriodicalIF":0.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144184429","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Incidental acute cholecystitis as a gateway to the diagnosis of AL cardiac amyloidosis 偶发性急性胆囊炎作为AL型心脏淀粉样变诊断的途径

Q4 Medicine

Journal of Cardiology Cases

Pub Date : 2025-06-01 DOI: 10.1016/j.jccase.2025.03.006

Haruhiko Higashi MD, PhD , Yukihiro Miyazaki MD, PhD , Mitsuharu Ueda MD, PhD , Shunsuke Tamaki MD, PhD , Kazuhisa Nishimura MD, PhD , Katsuji Inoue MD, PhD, FJCC , Shuntaro Ikeda MD, PhD, FJCC , Osamu Yamaguchi MD, PhD, FJCC

Amyloid light-chain (AL) amyloidosis is characterized by the deposition of amyloid fibrils in various organs, although gallbladder involvement is rare. We present the case of a 62-year-old female patient initially diagnosed with heart failure with preserved ejection fraction (HFpEF), who incidentally developed acute cholecystitis during her evaluation for HFpEF. Following a cholecystectomy, amyloid deposits were identified in the resected gallbladder. Subsequent investigations confirmed cardiac amyloidosis through imaging, bone marrow analysis, and M-protein detection, leading to a diagnosis of AL λ amyloidosis associated with multiple myeloma. The patient favorably responded to chemotherapy. This case emphasizes the importance of considering gallbladder amyloidosis, which may aid in avoiding unnecessary biopsies and facilitate timely diagnosis and treatment of amyloidosis.

Learning objective

Gallbladder amyloidosis is rare. However, recognizing that the gallbladder may be a site of amyloid deposition is crucial in cardiac amyloidosis management. This awareness can help clinicians avoid unnecessary biopsies by considering the gallbladder as a potential source of diagnostic tissue.

淀粉样蛋白轻链（AL）淀粉样变性的特点是淀粉样蛋白原纤维沉积在各个器官，尽管累及胆囊是罕见的。我们报告了一位62岁的女性患者，最初诊断为心力衰竭并保留射血分数（HFpEF），在她的HFpEF评估期间偶然发展为急性胆囊炎。胆囊切除术后，在切除的胆囊中发现淀粉样蛋白沉积。随后的调查通过影像学、骨髓分析和m蛋白检测证实了心脏淀粉样变，从而诊断为AL λ淀粉样变与多发性骨髓瘤相关。病人对化疗反应良好。本病例强调了考虑胆囊淀粉样变的重要性，这可能有助于避免不必要的活检，并促进淀粉样变的及时诊断和治疗。学习目的胆囊淀粉样变性是一种罕见的疾病。然而，认识到胆囊可能是淀粉样蛋白沉积的一个部位在心脏淀粉样变性的治疗中是至关重要的。这种意识可以帮助临床医生通过考虑胆囊作为诊断组织的潜在来源来避免不必要的活组织检查。

{"title":"Incidental acute cholecystitis as a gateway to the diagnosis of AL cardiac amyloidosis","authors":"Haruhiko Higashi MD, PhD , Yukihiro Miyazaki MD, PhD , Mitsuharu Ueda MD, PhD , Shunsuke Tamaki MD, PhD , Kazuhisa Nishimura MD, PhD , Katsuji Inoue MD, PhD, FJCC , Shuntaro Ikeda MD, PhD, FJCC , Osamu Yamaguchi MD, PhD, FJCC","doi":"10.1016/j.jccase.2025.03.006","DOIUrl":"10.1016/j.jccase.2025.03.006","url":null,"abstract":"<div><div>Amyloid light-chain (AL) amyloidosis is characterized by the deposition of amyloid fibrils in various organs, although gallbladder involvement is rare. We present the case of a 62-year-old female patient initially diagnosed with heart failure with preserved ejection fraction (HFpEF), who incidentally developed acute cholecystitis during her evaluation for HFpEF. Following a cholecystectomy, amyloid deposits were identified in the resected gallbladder. Subsequent investigations confirmed cardiac amyloidosis through imaging, bone marrow analysis, and M-protein detection, leading to a diagnosis of AL λ amyloidosis associated with multiple myeloma. The patient favorably responded to chemotherapy. This case emphasizes the importance of considering gallbladder amyloidosis, which may aid in avoiding unnecessary biopsies and facilitate timely diagnosis and treatment of amyloidosis.</div></div><div><h3>Learning objective</h3><div>Gallbladder amyloidosis is rare. However, recognizing that the gallbladder may be a site of amyloid deposition is crucial in cardiac amyloidosis management. This awareness can help clinicians avoid unnecessary biopsies by considering the gallbladder as a potential source of diagnostic tissue.</div></div>","PeriodicalId":52092,"journal":{"name":"Journal of Cardiology Cases","volume":"31 6","pages":"Pages 182-185"},"PeriodicalIF":0.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144184507","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Survival post out-of-hospital cardiac arrest from anomalous right coronary artery: A case report and insight into management 右冠状动脉异常引起院外心脏骤停后的存活：1例报告及治疗见解

Q4 Medicine

Journal of Cardiology Cases

Pub Date : 2025-06-01 DOI: 10.1016/j.jccase.2025.02.004

Haowen Jiang MBBS , Samuel Ji Quan Koh MBBS, MRCP, MMED , Jeffrey Lau BA, MD, PhD , Swee Yaw Tan MBChB, MRCP

Anomalous coronary arteries originating from the opposite sinus of Valsalva are rare causes of sudden cardiac death (SCD), and when present are associated with poor outcomes. We present a rare case of a young man with an anomalous right coronary artery (RCA) presenting with out of hospital cardiac arrest and provide insights into management. A 27-year-old healthy Chinese man presented with out of hospital cardiac arrest during exertion, with initial electrocardiogram and echocardiography unrevealing for an underlying cause of collapse. Subsequent computed tomography coronary angiogram revealed the presence of an anomalous origin of the RCA from the left coronary sinus with acute angle take-off and slit-like orifice, with an inter-arterial course. Other investigations, including flecainide challenge test, cardiac magnetic resonance imaging, and treadmill stress tests were unyielding. He subsequently underwent an uneventful surgery to unroof the origin of the anomalous RCA without the need for an implantable cardiac defibrillator. The patient made a full recovery post-surgery and was discharged well. Anomalous coronary arteries with an inter-arterial course are a rare cause of SCD and where responsible, these anomalies are often found postmortem after SCD. In our case, the patient successfully underwent surgical correction.

Learning objectives

Anomalous coronary arteries are a rare cause of cardiac arrest and when present, are often associated with poor neurological and functional outcomes. The long-term management of this group of patients is not well known. After appropriate surgical correction and with preserved cardiac function, an implantable cardiac defibrillator may not always be necessary. This decision should follow a detailed discussion between the cardiologist, cardiothoracic surgeons, and patient.

起源于Valsalva对侧窦的冠状动脉异常是心源性猝死（SCD）的罕见原因，当出现时与不良预后相关。我们提出一个罕见的情况下，年轻男子异常右冠状动脉（RCA）提出院外心脏骤停，并提供见解的管理。一名27岁的健康中国男子在运动时出现院外心脏骤停，初始心电图和超声心动图未显示晕倒的潜在原因。随后的计算机断层冠状动脉造影显示，左冠状窦有一个异常的RCA起源，具有急性角度起飞和狭缝状口，具有动脉间程。其他研究，包括氟氯胺激发试验、心脏磁共振成像和跑步机压力测试，结果都不一致。随后，他接受了一次顺利的手术，在不需要植入式心脏除颤器的情况下，揭开了异常RCA的起源。患者术后完全恢复，出院情况良好。冠状动脉异常伴动脉间程是罕见的SCD病因，而这些异常通常是在SCD死后发现的。在我们的病例中，患者成功地接受了手术矫正。学习目标冠状动脉异常是一种罕见的心脏骤停原因，当出现时，通常与不良的神经和功能预后相关。这组患者的长期治疗尚不清楚。在适当的手术矫正和保留心脏功能后，植入式心脏除颤器可能并不总是必要的。这一决定应在心脏科医生、心胸外科医生和患者之间进行详细讨论后做出。

{"title":"Survival post out-of-hospital cardiac arrest from anomalous right coronary artery: A case report and insight into management","authors":"Haowen Jiang MBBS , Samuel Ji Quan Koh MBBS, MRCP, MMED , Jeffrey Lau BA, MD, PhD , Swee Yaw Tan MBChB, MRCP","doi":"10.1016/j.jccase.2025.02.004","DOIUrl":"10.1016/j.jccase.2025.02.004","url":null,"abstract":"<div><div>Anomalous coronary arteries originating from the opposite sinus of Valsalva are rare causes of sudden cardiac death (SCD), and when present are associated with poor outcomes. We present a rare case of a young man with an anomalous right coronary artery (RCA) presenting with out of hospital cardiac arrest and provide insights into management. A 27-year-old healthy Chinese man presented with out of hospital cardiac arrest during exertion, with initial electrocardiogram and echocardiography unrevealing for an underlying cause of collapse. Subsequent computed tomography coronary angiogram revealed the presence of an anomalous origin of the RCA from the left coronary sinus with acute angle take-off and slit-like orifice, with an inter-arterial course. Other investigations, including flecainide challenge test, cardiac magnetic resonance imaging, and treadmill stress tests were unyielding. He subsequently underwent an uneventful surgery to unroof the origin of the anomalous RCA without the need for an implantable cardiac defibrillator. The patient made a full recovery post-surgery and was discharged well. Anomalous coronary arteries with an inter-arterial course are a rare cause of SCD and where responsible, these anomalies are often found postmortem after SCD. In our case, the patient successfully underwent surgical correction.</div></div><div><h3>Learning objectives</h3><div>Anomalous coronary arteries are a rare cause of cardiac arrest and when present, are often associated with poor neurological and functional outcomes. The long-term management of this group of patients is not well known. After appropriate surgical correction and with preserved cardiac function, an implantable cardiac defibrillator may not always be necessary. This decision should follow a detailed discussion between the cardiologist, cardiothoracic surgeons, and patient.</div></div>","PeriodicalId":52092,"journal":{"name":"Journal of Cardiology Cases","volume":"31 6","pages":"Pages 162-165"},"PeriodicalIF":0.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144184699","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Cardiac arrest in an (apparently) healthy heart: A case report of an undiagnosed arrhythmogenic cardiomyopathy （表面）健康心脏的心脏骤停：一例未确诊的心律失常性心肌病报告

Q4 Medicine

Journal of Cardiology Cases

Pub Date : 2025-06-01 DOI: 10.1016/j.jccase.2025.03.005

Paolo Pollice MD, PhD , Antonio Gianluca Robles MD, PhD , Domenico Riccardo Rosario Chieppa MD , Saverio Pollice MD , Francesco Bartolomucci MD, PhD

Arrhythmogenic cardiomyopathy is a rare and insidious disease that can be misdiagnosed with the common first-line diagnostic techniques. It can also primarily debut with sustained ventricular arrhythmias that can lead to cardiac arrest. We report the case of a 49-year-old triathlon athlete who during strenuous physical exercise experimented cardiac arrest. After successful resuscitation he was admitted to our unit: electrocardiogram, emergency echocardiogram, and coronary angiography did not show anything abnormal. Holter monitoring showed premature ventricular complexes with two different morphologies and cardiac magnetic resonance allowed us to make diagnosis of biventricular arrhythmogenic cardiomyopathy previously unrecognized. A subcutaneous implantable cardiac defibrillator was positioned for secondary prevention. Our case shows that in athletes a deep process of diagnostic screening is mandatory and this must include also cardiac magnetic resonance in case of element of clinical suspicion such as premature ventricular complexes at Holter monitoring and/or low voltages on limb leads in baseline 12‑lead electrocardiogram. A network of basic life emergency support measures is fundamental in every setting in which sport at competitive and non-competitive levels is performed.

Learning objectives

A deep diagnostic cardiologic screening for young athletes is important especially in case of premature ventricular complexes at electrocardiographic Holter monitoring and/or in clinical suspicion of an underlying cardiomyopathy. In selected cases the execution of cardiac magnetic resonance imaging is essential to permit the correct diagnostic assessment of a previously undiagnosed cardiomyopathy as the arrhythmogenic cardiomyopathy preventing dangerous (also lethal) clinical presentation.

心律失常性心肌病是一种罕见而隐匿的疾病，常用的一线诊断技术可能会误诊。它也可以主要表现为可导致心脏骤停的持续性室性心律失常。我们报告的情况下，49岁的铁人三项运动员谁在剧烈的体育锻炼实验心脏骤停。复苏成功后，他被送至我科：心电图、急诊超声心动图、冠状动脉造影均未见异常。动态心电图监测显示两种不同形态的过早心室复核和心脏磁共振使我们能够诊断双室致心律失常心肌病。放置皮下植入式心脏除颤器用于二级预防。我们的病例表明，在运动员中，深入的诊断筛选过程是强制性的，这必须包括在临床怀疑因素的情况下进行心脏磁共振，例如在动态心电图监测中发现过早的心室复合物和/或基线12导联心电图中肢体导联的低电压。在竞技和非竞技体育的任何环境中，基本生命紧急支助措施网络都是必不可少的。学习目的：对年轻运动员进行深入的心脏诊断筛查是很重要的，特别是在心电图动态心电图监测中发现过早的心室复合物和/或临床怀疑有潜在的心肌病时。在选定的病例中，心脏磁共振成像的执行是必要的，以便对先前未诊断的心肌病进行正确的诊断评估，作为心律失常性心肌病，防止危险（也致命）的临床表现。

{"title":"Cardiac arrest in an (apparently) healthy heart: A case report of an undiagnosed arrhythmogenic cardiomyopathy","authors":"Paolo Pollice MD, PhD , Antonio Gianluca Robles MD, PhD , Domenico Riccardo Rosario Chieppa MD , Saverio Pollice MD , Francesco Bartolomucci MD, PhD","doi":"10.1016/j.jccase.2025.03.005","DOIUrl":"10.1016/j.jccase.2025.03.005","url":null,"abstract":"<div><div>Arrhythmogenic cardiomyopathy is a rare and insidious disease that can be misdiagnosed with the common first-line diagnostic techniques. It can also primarily debut with sustained ventricular arrhythmias that can lead to cardiac arrest. We report the case of a 49-year-old triathlon athlete who during strenuous physical exercise experimented cardiac arrest. After successful resuscitation he was admitted to our unit: electrocardiogram, emergency echocardiogram, and coronary angiography did not show anything abnormal. Holter monitoring showed premature ventricular complexes with two different morphologies and cardiac magnetic resonance allowed us to make diagnosis of biventricular arrhythmogenic cardiomyopathy previously unrecognized. A subcutaneous implantable cardiac defibrillator was positioned for secondary prevention. Our case shows that in athletes a deep process of diagnostic screening is mandatory and this must include also cardiac magnetic resonance in case of element of clinical suspicion such as premature ventricular complexes at Holter monitoring and/or low voltages on limb leads in baseline 12‑lead electrocardiogram. A network of basic life emergency support measures is fundamental in every setting in which sport at competitive and non-competitive levels is performed.</div></div><div><h3>Learning objectives</h3><div>A deep diagnostic cardiologic screening for young athletes is important especially in case of premature ventricular complexes at electrocardiographic Holter monitoring and/or in clinical suspicion of an underlying cardiomyopathy. In selected cases the execution of cardiac magnetic resonance imaging is essential to permit the correct diagnostic assessment of a previously undiagnosed cardiomyopathy as the arrhythmogenic cardiomyopathy preventing dangerous (also lethal) clinical presentation.</div></div>","PeriodicalId":52092,"journal":{"name":"Journal of Cardiology Cases","volume":"31 6","pages":"Pages 178-181"},"PeriodicalIF":0.0,"publicationDate":"2025-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144184436","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0