Journal of Cardiology Cases最新文献

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Emergency mitral valve transcatheter edge-to-edge repair in cardiogenic shock due to papillary muscle rupture 冠状肌破裂致心源性休克的急诊二尖瓣边缘修补术
Journal of Cardiology Cases Pub Date : 2026-06-01 Epub Date: 2026-03-18 DOI: 10.1016/j.jccase.2026.02.002
Usman Ahmed MD , Christopher Kim MD , Camila Machado De Souza MD , Fatima Noor MBBS , Roger Laham MD , David C. Liu MD , Feroze Mahmood MD
{"title":"Emergency mitral valve transcatheter edge-to-edge repair in cardiogenic shock due to papillary muscle rupture","authors":"Usman Ahmed MD ,&nbsp;Christopher Kim MD ,&nbsp;Camila Machado De Souza MD ,&nbsp;Fatima Noor MBBS ,&nbsp;Roger Laham MD ,&nbsp;David C. Liu MD ,&nbsp;Feroze Mahmood MD","doi":"10.1016/j.jccase.2026.02.002","DOIUrl":"10.1016/j.jccase.2026.02.002","url":null,"abstract":"<div><div>Cardiogenic shock secondary to papillary muscle rupture carries high mortality and often precludes surgical repair. We present a case of acute mitral regurgitation following myocardial infarction managed with emergent transcatheter edge-to-edge repair (TEER) under combined veno-arterial extracorporeal membrane oxygenation (VA-ECMO) and transvalvular assist device (Impella, Abiomed, Danvers, MA, USA) support. Real-time echocardiographic guidance required transient VA-ECMO flow reduction to optimize right atrial visualization and Impella adjustment to prevent device interference. Sequential clip deployment achieved significant mitral regurgitation reduction and hemodynamic improvement. This case highlights the feasibility, imaging challenges, and multidisciplinary coordination required for successful TEER in refractory cardiogenic shock.</div></div><div><h3>Learning objective</h3><div>We illustrate the feasibility and technical nuances of performing transcatheter edge-to-edge mitral valve repair in cardiogenic shock due to papillary muscle rupture under combined veno-arterial extracorporeal membrane oxygenation and Impella support. This case emphasizes the critical role of real-time multimodality echocardiographic guidance, hemodynamic optimization through temporary device flow adjustments, and coordinated multidisciplinary decision-making in achieving procedural success when conventional surgical repair is not feasible.</div></div>","PeriodicalId":52092,"journal":{"name":"Journal of Cardiology Cases","volume":"33 6","pages":"Pages 190-194"},"PeriodicalIF":0.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148192324","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
Biatrial tachycardia due to conduction recovery of left atrial anterior roof lesion created by vein of Marshall ethanol infusion 马歇尔乙醇静脉输注引起左心房前顶病变传导恢复所致双房性心动过速
Journal of Cardiology Cases Pub Date : 2026-06-01 Epub Date: 2026-04-14 DOI: 10.1016/j.jccase.2026.01.006
Shushi Nishiwaki MD, Satoshi Shizuta MD, Hirohiko Kohjitani MD, Koh Ono MD, FJCC
{"title":"Biatrial tachycardia due to conduction recovery of left atrial anterior roof lesion created by vein of Marshall ethanol infusion","authors":"Shushi Nishiwaki MD,&nbsp;Satoshi Shizuta MD,&nbsp;Hirohiko Kohjitani MD,&nbsp;Koh Ono MD, FJCC","doi":"10.1016/j.jccase.2026.01.006","DOIUrl":"10.1016/j.jccase.2026.01.006","url":null,"abstract":"<div><div>A 77-year-old man underwent pulmonary vein isolation and cavotricuspid isthmus ablation for paroxysmal atrial fibrillation and typical atrial flutter. Eleven months later, recurrent atrial fibrillation required a second procedure. Left atrial (LA) posterior wall isolation and vein of Marshall (VOM) ethanol infusion were performed for roof-dependent atrial tachycardia (AT) and Marshall bundle (MB)-related triggers. A third procedure was required for recurrent AT. After completion of the anterior mitral line, an induced MB-related AT was terminated by VOM ethanol infusion, and the LA anterior roof area appeared electrically isolated. However, two weeks later, a rapid AT recurred and a fourth procedure revealed conduction recovery across the previously isolated LA anterior roof area, resulting in a counter-clockwise biatrial tachycardia. Radiofrequency ablation at the LA ridge and anterior wall terminated the AT and re-isolated the LA anterior roof area. This case demonstrates that lesions created by VOM ethanol infusion, particularly those extending toward the LA roof, may not always be durable.</div></div><div><h3>Learning objective</h3><div>Vein of Marshall (VOM) ethanol infusion is widely used to eliminate Marshall bundle-related atrial tachycardia. When VOM ethanol infusion creates isolation extending toward the left atrial anterior roof, additional endocardial radiofrequency ablation should be considered to ensure durable block and prevent arrhythmia recurrence.</div></div>","PeriodicalId":52092,"journal":{"name":"Journal of Cardiology Cases","volume":"33 6","pages":"Pages 181-185"},"PeriodicalIF":0.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148192368","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
Wild-type transthyretin amyloid cardiomyopathy diagnosed by 99mTc-HMDP scintigraphy and an endomyocardial biopsy despite inconclusive 99mTc-PYP findings 尽管99mTc-PYP结果不确定,但通过99mTc-HMDP显像和心内膜活检诊断为野生型转甲状腺蛋白淀粉样心肌病
Journal of Cardiology Cases Pub Date : 2026-06-01 Epub Date: 2026-04-03 DOI: 10.1016/j.jccase.2026.03.003
Yusuke Kashiwagi MD, PhD , Satoshi Ito MD, PhD , Utaro Taga MD , Toraaki Okuyama MD, PhD , Ken Watanabe MD, PhD , Kae Kawachi MD, PhD , Kazuo Ogawa MD, PhD , Michifumi Tokuda MD, PhD
{"title":"Wild-type transthyretin amyloid cardiomyopathy diagnosed by 99mTc-HMDP scintigraphy and an endomyocardial biopsy despite inconclusive 99mTc-PYP findings","authors":"Yusuke Kashiwagi MD, PhD ,&nbsp;Satoshi Ito MD, PhD ,&nbsp;Utaro Taga MD ,&nbsp;Toraaki Okuyama MD, PhD ,&nbsp;Ken Watanabe MD, PhD ,&nbsp;Kae Kawachi MD, PhD ,&nbsp;Kazuo Ogawa MD, PhD ,&nbsp;Michifumi Tokuda MD, PhD","doi":"10.1016/j.jccase.2026.03.003","DOIUrl":"10.1016/j.jccase.2026.03.003","url":null,"abstract":"<div><div>Transthyretin amyloid cardiomyopathy (ATTR-CM) is a progressive but under-diagnosed disease. With the emergence of novel therapies, including transthyretin (TTR) stabilizers and RNA silencers, an accurate diagnosis and timely therapeutic intervention have become increasingly important. <sup>99m</sup>Technetium (<sup>99m</sup>Tc)-labeled bone radiotracer scintigraphy, using pyrophosphate (PYP) or hydroxymethylene diphosphonate (HMDP), is a key noninvasive diagnostic tool. We herein report a case of wild-type ATTR-CM in an 87-year-old woman who presented with heart failure with a preserved ejection fraction (HFpEF) and a history of bilateral carpal tunnel release surgery. Despite strong clinical suspicion, <sup>99m</sup>Tc-PYP scintigraphy demonstrated only a cardiac blood pool without a definite myocardial uptake, and was ultimately interpreted as inconclusive. However, subsequent <sup>99m</sup>Tc-HMDP scintigraphy revealed distinct myocardial tracer accumulation (Perugini grade 2). An endomyocardial biopsy confirmed TTR-positive amyloid deposits, and a genetic analysis identified wild-type ATTR-CM. This case highlights the need for careful analysis of cardiac blood pool patterns on <sup>99m</sup>Tc-PYP scintigraphy, and underscores that when <sup>99m</sup>Tc-PYP scintigraphy is inconclusive, an endomyocardial biopsy should be considered in patients with clinical features suggestive of ATTR-CM (e.g. HFpEF, left ventricular hypertrophy, and a history of carpal tunnel syndrome) to avoid a missed or delayed diagnosis.</div></div><div><h3>Learning objective</h3><div>To recognize that even though <sup>99m</sup>Tc-PYP scintigraphy generally has high diagnostic accuracy for ATTR-CM, inconclusive cardiac blood-pool <sup>99m</sup>Tc-PYP scintigraphy requires a careful analysis rather than being assumed to be negative. When ATTR-CM is strongly suspected based on clinical findings, an endomyocardial biopsy should be considered. This case underscores the importance of integrating imaging findings with clinical judgment to avoid a missed or delayed diagnosis of ATTR-CM.</div></div>","PeriodicalId":52092,"journal":{"name":"Journal of Cardiology Cases","volume":"33 6","pages":"Pages 202-205"},"PeriodicalIF":0.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148192373","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
Atrial leadless device dislodgment and intracardiac echocardiogram (ICE)-guided device retrieval after leadless pacemaker implantation: A case report 无导线心脏起搏器植入后心房无导线装置脱位及心内超声心动图引导下装置取出1例报告
Journal of Cardiology Cases Pub Date : 2026-06-01 Epub Date: 2026-03-31 DOI: 10.1016/j.jccase.2026.03.001
Kaiyu Jia MD , Shahkar Khan MD , Vincent Gallo MD , Valay Parikh MD, FACC, FHRS
{"title":"Atrial leadless device dislodgment and intracardiac echocardiogram (ICE)-guided device retrieval after leadless pacemaker implantation: A case report","authors":"Kaiyu Jia MD ,&nbsp;Shahkar Khan MD ,&nbsp;Vincent Gallo MD ,&nbsp;Valay Parikh MD, FACC, FHRS","doi":"10.1016/j.jccase.2026.03.001","DOIUrl":"10.1016/j.jccase.2026.03.001","url":null,"abstract":"<div><h3>Background</h3><div>Compared to traditional transvenous pacemakers, leadless pacemakers have the advantages of reducing risks of infection, minimal vascular access, and interactions with tricuspid apparatus. However, complications including device dislodgement can still occur and its management requires a comprehensive and innovative approach. We report a case of atrial leadless device dislodgement into pulmonary artery after implantation and intracardiac echocardiogram (ICE)-guided retrieval of the device. Venogram at the area confirmed that the device was lodged into a subbranch of the left pulmonary artery. A gooseneck snare tool was used to snare the device. With ICE guidance, pacemaker and snare device were adjusted to overcome valve entanglement and the system was retrieved. ICE imaging after retrieval showed moderate pulmonary regurgitation (PR) and small circumferential pericardial effusion. The patient tolerated the procedure well and was discharged a week later without any events. Follow-up transthoracic echocardiogram showed improved PR. In conclusion, device dislodgement is one of the complications after leadless pacemaker implantation. Intra-procedural ICE imaging is an efficient tool to guide device retrieval in order to avoid valve entanglement and damage.</div></div><div><h3>Learning objective</h3><div>The management and surveillance of device dislodgment after leadless pacemaker implantation requires an individualized approach. Intra-procedural intracardiac echocardiogram imaging is an efficient tool to guide device retrieval in order to avoid valve entanglement and damage.</div></div>","PeriodicalId":52092,"journal":{"name":"Journal of Cardiology Cases","volume":"33 6","pages":"Pages 199-201"},"PeriodicalIF":0.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148192372","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
How to diagnose titanium hypersensitivity as a cause of arm swelling in a patient who underwent pacemaker implantation 如何诊断接受心脏起搏器植入的患者的钛过敏是手臂肿胀的原因
Journal of Cardiology Cases Pub Date : 2026-06-01 Epub Date: 2026-01-20 DOI: 10.1016/j.jccase.2026.01.005
Naoya Kataoka, Teruhiko Imamura MD, PhD, FJCC
{"title":"How to diagnose titanium hypersensitivity as a cause of arm swelling in a patient who underwent pacemaker implantation","authors":"Naoya Kataoka,&nbsp;Teruhiko Imamura MD, PhD, FJCC","doi":"10.1016/j.jccase.2026.01.005","DOIUrl":"10.1016/j.jccase.2026.01.005","url":null,"abstract":"","PeriodicalId":52092,"journal":{"name":"Journal of Cardiology Cases","volume":"33 6","pages":"Pages 212-213"},"PeriodicalIF":0.0,"publicationDate":"2026-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148192374","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
Massive late device-related thrombus with watchman FLX left atrial appendage closure device two years after implantation: A case report watchman FLX左心耳关闭器植入2年后并发大量晚期器械相关血栓1例
Journal of Cardiology Cases Pub Date : 2026-05-01 Epub Date: 2026-02-09 DOI: 10.1016/j.jccase.2026.01.010
Danielle Shields MD , Bhavya Varma MD , Daniel Bamira MD , Richard Ro MD , Alexander Kushnir MD , Larry Chinitz MD , Muhamed Saric MD, PhD , Joey Junarta MBBS
{"title":"Massive late device-related thrombus with watchman FLX left atrial appendage closure device two years after implantation: A case report","authors":"Danielle Shields MD ,&nbsp;Bhavya Varma MD ,&nbsp;Daniel Bamira MD ,&nbsp;Richard Ro MD ,&nbsp;Alexander Kushnir MD ,&nbsp;Larry Chinitz MD ,&nbsp;Muhamed Saric MD, PhD ,&nbsp;Joey Junarta MBBS","doi":"10.1016/j.jccase.2026.01.010","DOIUrl":"10.1016/j.jccase.2026.01.010","url":null,"abstract":"<div><div>Oral anticoagulation (OAC) remains the primary means of stroke prevention in patients with atrial fibrillation (AF). However, there are patients at greater risk of bleeding or who have experienced major bleeding, whereby long term OAC is relatively contraindicated. Additionally, up to 55% of eligible AF patients do not utilize OAC. Thus, transcatheter left atrial appendage occlusion devices (LAAOD) present an attractive alternative to mitigate stroke risk. Randomized trials have demonstrated the noninferiority of LAAOD to OAC in reducing stroke risk. However, treatment with LAAODs presents its own risks, including the risk of device-related thrombus (DRT). In this report, we describe an unusual case of a patient with a small DRT initially identified on transesophageal echocardiography (TEE) 6 weeks after implantation of a Watchman FLX (Boston Scientific, Marlborough, MA, USA) LAAOD that was appropriately treated and resolved on TEE 6 months after implantation. However, a massive late DRT recurred 2 years after implantation. This case highlights the importance of continued device monitoring for unfavorable evolution of DRT beyond the currently recommended 45-day to 1-year monitoring period, and especially after suspected thrombus resolution. Furthermore, it underlines the importance of developing newer generation LAAOD that reduces DRT risk.</div></div><div><h3>Learning objective</h3><div>Left atrial appendage occlusion devices can mitigate stroke risk in atrial fibrillation patients with contraindications to oral anticoagulation. However, these devices present with their own risks, including the risk of device-related thrombus (DRT). This case highlights the importance of continued device monitoring for unfavorable evolution of DRT beyond the recommended 45-day to 1-year monitoring period.</div></div>","PeriodicalId":52092,"journal":{"name":"Journal of Cardiology Cases","volume":"33 5","pages":"Pages 147-151"},"PeriodicalIF":0.0,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147757001","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 rare case of pediatric cardiac fibroma arising from the pulmonary valve and right ventricular outflow tract presenting with obstructive hemodynamics 小儿心脏纤维瘤起源于肺动脉瓣及右心室流出道,表现为血流动力学阻塞
Journal of Cardiology Cases Pub Date : 2026-05-01 Epub Date: 2026-02-21 DOI: 10.1016/j.jccase.2026.01.013
Ryo Inoue MD , Kiyotaka Go MD, PhD , Mikiko Hashisako MD, PhD , Masaki Sato MD, PhD , Ayako Kuraoka MD, PhD , Koichi Sagawa MD
{"title":"A rare case of pediatric cardiac fibroma arising from the pulmonary valve and right ventricular outflow tract presenting with obstructive hemodynamics","authors":"Ryo Inoue MD ,&nbsp;Kiyotaka Go MD, PhD ,&nbsp;Mikiko Hashisako MD, PhD ,&nbsp;Masaki Sato MD, PhD ,&nbsp;Ayako Kuraoka MD, PhD ,&nbsp;Koichi Sagawa MD","doi":"10.1016/j.jccase.2026.01.013","DOIUrl":"10.1016/j.jccase.2026.01.013","url":null,"abstract":"<div><div>Primary cardiac tumors in the pediatric population are rare, and reports of cardiac fibromas diagnosed during childhood are limited. We report a pediatric case of cardiac fibroma attached to the right ventricular outflow tract (RVOT) and pulmonary valve that presented with RVOT obstruction in a 15-month-old boy who was referred for evaluation of a heart murmur. Echocardiography revealed a mobile 10-mm mass attached to the pulmonary valve that caused RVOT obstruction and elevated right ventricular pressure. Because of the risk of embolization and hemodynamic significance, surgical excision was performed. A pathological examination confirmed the diagnosis of cardiac fibroma. Although rare, pediatric cardiac tumors can cause serious complications such as embolism and arrhythmias, thus highlighting the importance of careful auscultation, detailed imaging evaluation, and appropriate surgical decision-making.</div></div><div><h3>Learning objective</h3><div>Pediatric cardiac fibromas are rare and frequently asymptomatic; however, depending on their location and mobility, they may pose a significant risk of right ventricular outflow tract obstruction and embolic events. Careful cardiac auscultation, followed by timely echocardiographic assessment, is essential for early detection. Surgical intervention should be considered on the basis of hemodynamic impact rather than tumor size alone.</div></div>","PeriodicalId":52092,"journal":{"name":"Journal of Cardiology Cases","volume":"33 5","pages":"Pages 168-171"},"PeriodicalIF":0.0,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147757103","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
Surgical treatment for metastatic cardiac tumor originating from tongue cancer 源自舌癌的转移性心脏肿瘤的外科治疗
Journal of Cardiology Cases Pub Date : 2026-05-01 Epub Date: 2026-02-21 DOI: 10.1016/j.jccase.2026.01.020
Yuki Echie MD, Chizuo Kikuchi MD, PhD, Yasuhito Okuzono MD, Shinka Miyamoto MD, PhD, Hiroshi Niinami MD, PhD
{"title":"Surgical treatment for metastatic cardiac tumor originating from tongue cancer","authors":"Yuki Echie MD,&nbsp;Chizuo Kikuchi MD, PhD,&nbsp;Yasuhito Okuzono MD,&nbsp;Shinka Miyamoto MD, PhD,&nbsp;Hiroshi Niinami MD, PhD","doi":"10.1016/j.jccase.2026.01.020","DOIUrl":"10.1016/j.jccase.2026.01.020","url":null,"abstract":"<div><div>Metastasis of malignant tumors to the heart is rare and often diagnosed posthumously. A 70-year-old man, who had undergone partial tongue resection and neck dissection for tongue cancer a year prior, was found to have bilateral lung metastases. Bilateral lung resections were planned for stage II disease. After the second lung surgery, he developed frequent ventricular arrhythmias. Echocardiography revealed a 60 mm tumor on the lateral wall of the left ventricle, diagnosed as cardiac metastasis. Given the relatively good general condition and potential for long-term survival with chemotherapy, surgery was performed to prevent embolic events. Intraoperatively, tumor invasion into the papillary muscle and chordae tendineae necessitated tumor excision and mitral valve replacement. The postoperative course was favorable, with challenges in managing pleural effusions, but no recurrence of arrhythmias. The patient was discharged on postoperative day 15 and continued systemic chemotherapy and palliative care. Pathology confirmed squamous cell carcinoma, consistent with distant metastasis of tongue cancer.</div></div><div><h3>Learning objective</h3><div>Cardiac tumors are extremely rare and are often discovered only after death. Even when detected during the patient's lifetime, the prognosis is generally poor. This case involved a metastatic tumor to the heart from tongue cancer, but salvage surgery was considered as a potential option to improve the outcome.</div></div>","PeriodicalId":52092,"journal":{"name":"Journal of Cardiology Cases","volume":"33 5","pages":"Pages 172-176"},"PeriodicalIF":0.0,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147757104","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 magnetic resonance findings in two cases of hypertrophic cardiomyopathy with MYH7 and MYBPC3 variants: Limitations of genotype-based phenotypic prediction 2例伴有MYH7和MYBPC3变异的肥厚性心肌病的心脏磁共振结果:基于基因型的表型预测的局限性
Journal of Cardiology Cases Pub Date : 2026-05-01 Epub Date: 2026-02-21 DOI: 10.1016/j.jccase.2026.01.018
Hidetaka Hayashi MD, PhD , Seitaro Oda MD, PhD , Masafumi Kidoh MD, PhD , Naoto Kuyama MD, PhD , Masahiro Yamamoto MD, PhD , Yasuhiro Izumiya MD, PhD, FJCC , Yuki Kuramoto MD, PhD , Yoshihiro Asano MD, PhD , Kenichi Tsujita MD, PhD, FJCC , Toshinori Hirai MD, PhD
{"title":"Cardiac magnetic resonance findings in two cases of hypertrophic cardiomyopathy with MYH7 and MYBPC3 variants: Limitations of genotype-based phenotypic prediction","authors":"Hidetaka Hayashi MD, PhD ,&nbsp;Seitaro Oda MD, PhD ,&nbsp;Masafumi Kidoh MD, PhD ,&nbsp;Naoto Kuyama MD, PhD ,&nbsp;Masahiro Yamamoto MD, PhD ,&nbsp;Yasuhiro Izumiya MD, PhD, FJCC ,&nbsp;Yuki Kuramoto MD, PhD ,&nbsp;Yoshihiro Asano MD, PhD ,&nbsp;Kenichi Tsujita MD, PhD, FJCC ,&nbsp;Toshinori Hirai MD, PhD","doi":"10.1016/j.jccase.2026.01.018","DOIUrl":"10.1016/j.jccase.2026.01.018","url":null,"abstract":"<div><div>Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiomyopathy, usually caused by sarcomeric variants such as <em>MYH7</em> and <em>MYBPC3</em>. However, genotype–phenotype correlations remain incompletely defined. We report two patients with distinct genetic backgrounds and contrasting clinical and imaging findings. Case 1, a 40-year-old man with an <em>MYH7</em> variant, was incidentally diagnosed while asymptomatic, showing basal septal hypertrophy with patchy late gadolinium enhancement (LGE) at the right ventricular insertion point. Case 2, a 37-year-old woman with an <em>MYBPC3</em> variant, progressed from apical HCM diagnosed in adolescence to dilated-phase HCM with extensive LGE and advanced heart failure requiring defibrillator implantation, left ventricular assist device support, and listing for transplantation. These contrasting cases highlight the phenotypic heterogeneity of sarcomeric HCM. In HCM, the predictive value of single-gene variants is inherently limited for risk stratification, and cardiac magnetic resonance imaging plays a central role in comprehensive phenotypic assessment and prognostic evaluation.</div></div><div><h3>Learning objective</h3><div>To recognize that hypertrophic cardiomyopathy associated with the representative sarcomeric variants <em>MYH7</em> and <em>MYBPC3</em> exhibits marked phenotypic heterogeneity, and that the predictive value of single-gene variants is limited in risk stratification, with cardiac magnetic resonance imaging playing a central role in comprehensive phenotypic assessment and prognostic evaluation.</div></div>","PeriodicalId":52092,"journal":{"name":"Journal of Cardiology Cases","volume":"33 5","pages":"Pages 156-159"},"PeriodicalIF":0.0,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147757100","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
Management of unruptured intracranial aneurysms in atrial fibrillation: Role of ablation in anticoagulation cessation 房颤未破裂颅内动脉瘤的治疗:消融在抗凝停止中的作用
Journal of Cardiology Cases Pub Date : 2026-05-01 Epub Date: 2026-03-06 DOI: 10.1016/j.jccase.2026.01.014
Yuriko Hiruma MD , Masateru Takigawa MD, PhD , Shinsuke Miyazaki MD, PhD, FJCC , Satoru Takahashi MD, PhD , Sakyo Hirai MD, PhD , Kazutaka Sumita MD, PhD , Tetsuo Sasano MD, PhD, FJCC
{"title":"Management of unruptured intracranial aneurysms in atrial fibrillation: Role of ablation in anticoagulation cessation","authors":"Yuriko Hiruma MD ,&nbsp;Masateru Takigawa MD, PhD ,&nbsp;Shinsuke Miyazaki MD, PhD, FJCC ,&nbsp;Satoru Takahashi MD, PhD ,&nbsp;Sakyo Hirai MD, PhD ,&nbsp;Kazutaka Sumita MD, PhD ,&nbsp;Tetsuo Sasano MD, PhD, FJCC","doi":"10.1016/j.jccase.2026.01.014","DOIUrl":"10.1016/j.jccase.2026.01.014","url":null,"abstract":"<div><div>Flow diverters (FDs) are increasingly used for unruptured intracranial aneurysms and require postprocedural dual antiplatelet therapy. In patients receiving oral anticoagulation, such as those with atrial fibrillation (AF), antithrombotic management remains challenging because anticoagulation may impair intra-aneurysmal thrombosis and reduce occlusion rates. We report three AF patients treated with FDs for unruptured intracranial aneurysms. Complete aneurysm occlusion was achieved only in one patient in whom anticoagulation was discontinued after successful catheter ablation combined with ethanol infusion into the vein of Marshall and antiarrhythmic therapy for persistent AF of more than five years. This case series highlights that anticoagulation withdrawal enabled by individualized rhythm-control strategies may facilitate successful FD treatment even in very long-standing persistent AF.</div></div><div><h3>Learning objective</h3><div>To recognize that successful flow diversion in patients with atrial fibrillation may require careful selection of treatment strategies that permit temporary or permanent discontinuation of oral anticoagulation, and to emphasize the importance of individualized, goal-oriented antithrombotic management rather than a fixed anticoagulation approach.</div></div>","PeriodicalId":52092,"journal":{"name":"Journal of Cardiology Cases","volume":"33 5","pages":"Pages 164-167"},"PeriodicalIF":0.0,"publicationDate":"2026-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147757102","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
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