Journal of Cardiology Cases最新文献

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Ventricular fibrillation arrest with cardiomyopathy in the setting of exogenous T3 consumption in a previously healthy young male 室性纤颤骤停与心肌病在设定外源性T3消耗在一个以前健康的年轻男性
Journal of Cardiology Cases Pub Date : 2025-04-01 DOI: 10.1016/j.jccase.2025.01.002
Tobin Mathew MD , Kevin S. Tang MD , Fahad Gul MD , Sareen Sandhu DO , Omid Vadpey MD , Qin Yang MD , David Donaldson MD
{"title":"Ventricular fibrillation arrest with cardiomyopathy in the setting of exogenous T3 consumption in a previously healthy young male","authors":"Tobin Mathew MD ,&nbsp;Kevin S. Tang MD ,&nbsp;Fahad Gul MD ,&nbsp;Sareen Sandhu DO ,&nbsp;Omid Vadpey MD ,&nbsp;Qin Yang MD ,&nbsp;David Donaldson MD","doi":"10.1016/j.jccase.2025.01.002","DOIUrl":"10.1016/j.jccase.2025.01.002","url":null,"abstract":"<div><div>Ventricular fibrillation (VF) is an often-fatal cardiac arrhythmia with increased prevalence in those with structural heart disease, congestive heart failure, and history of myocardial infarction. Our case describes a young adult male who presented with VF arrest and new onset cardiomyopathy in the setting of exogenous testosterone and triiodothyronine supplementation. Comprehensive work-up demonstrated a severely reduced ejection fraction, no angiographically significant coronary artery disease on invasive coronary angiography, and evidence of right ventricular mid-lateral wall scarring on electrophysiology study and cardiac magnetic resonance imaging. Exogenous thyroid hormone and testosterone supplementation have been independently associated with development of dilated cardiomyopathy; however, VF arrest has rarely been described in otherwise previously healthy individuals with concomitant use of these substances. Optimal management, risk stratification, and prognosis in this population remains unknown. Our case identifies an at-risk population of sudden cardiac death where appropriate work-up and shared clinical decision-making is essential to improved patient outcomes and quality of life.</div></div><div><h3>Learning objective</h3><div>Exogenous triiodothyronine (T3) intake may be a risk factor for the development of acute cardiomyopathy, as cardiac myocytes directly uptake T3 which can induce arrhythmias and cardiac arrest. This process may be separate from tachycardia-mediated cardiomyopathy. Prognosis of hyperthyroid induced ventricular fibrillation and cardiomyopathy is unclear. Reversing the hyperthyroid state may reduce the risk of repeat sudden cardiac death. The decision for secondary prevention should be a joint decision understanding patient-specific risk factors and goals.</div></div>","PeriodicalId":52092,"journal":{"name":"Journal of Cardiology Cases","volume":"31 4","pages":"Pages 113-116"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143739182","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
A young man diagnosed with chronic thromboembolic pulmonary hypertension after COVID-19 infection: A case report 1例年轻男性COVID-19感染后诊断为慢性血栓栓塞性肺动脉高压1例报告
Journal of Cardiology Cases Pub Date : 2025-04-01 DOI: 10.1016/j.jccase.2025.01.001
Mitsumasa Akao MD, Kayoko Kubota MD, PhD, Sunao Miyanaga MD, PhD, Kokoro Mitsuyoshi MD, Mitsuru Ohishi MD, PhD, FJCC
{"title":"A young man diagnosed with chronic thromboembolic pulmonary hypertension after COVID-19 infection: A case report","authors":"Mitsumasa Akao MD,&nbsp;Kayoko Kubota MD, PhD,&nbsp;Sunao Miyanaga MD, PhD,&nbsp;Kokoro Mitsuyoshi MD,&nbsp;Mitsuru Ohishi MD, PhD, FJCC","doi":"10.1016/j.jccase.2025.01.001","DOIUrl":"10.1016/j.jccase.2025.01.001","url":null,"abstract":"<div><div>Chronic thromboembolic pulmonary hypertension (CTEPH) is a rare disease characterized by pulmonary hypertension (PH), resulting from stenosis or occlusion of the pulmonary arteries owing to an organic thrombus that obstructs blood flow in the pulmonary arteries. The prognosis for untreated patients is poor; however, it has improved significantly with the advent of treatments such as PH-targeted medical therapy and pulmonary balloon angioplasty, in addition to pulmonary endarterectomy. Nevertheless, the exact mechanisms underlying this disease remain unknown. Recently, a close association between coronavirus disease 2019 (COVID-19) and thrombosis has been detected, with the risk of venous thrombosis complications increasing after COVID-19 infection; however, few studies have reported on the association between COVID-19 and CTEPH. Herein, we present the case of a young man who developed CTEPH after a mild COVID-19 infection, despite the lack of an obvious thrombophilic predisposition. We conclude that if a patient develops chronic shortness of breath symptoms after a COVID-19 infection, it is important to investigate not only the COVID-19 sequelae, but also the presence of other diseases such as pulmonary artery thrombosis.</div></div><div><h3>Learning objective</h3><div>Coronavirus disease 2019 (COVID-19) infection frequently causes abnormal blood coagulation and is closely related to thrombosis. Although pulmonary embolism is a frequent complication of venous thrombosis, few studies have reported an association between COVID-19 and chronic thromboembolic pulmonary hypertension (CTEPH). Our patient developed CTEPH after COVID-19 infection. It is important to examine organic abnormalities, before diagnosing persistent dyspnea as a COVID-19 sequela.</div></div>","PeriodicalId":52092,"journal":{"name":"Journal of Cardiology Cases","volume":"31 4","pages":"Pages 121-124"},"PeriodicalIF":0.0,"publicationDate":"2025-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143739184","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
Complicated coronary artery dissection in which a guidewire was pushed out from the true lumen to the false lumen behind calcified plaque 复杂的冠状动脉夹层,从钙化斑块后面的真腔推出导丝至假腔
Journal of Cardiology Cases Pub Date : 2025-03-01 DOI: 10.1016/j.jccase.2024.11.007
Yusuke Watanabe MD, PhD, Kenichi Sakakura MD, PhD, Hiroyuki Jinnouchi MD, PhD, Hideo Fujita MD, PhD, FJCC
{"title":"Complicated coronary artery dissection in which a guidewire was pushed out from the true lumen to the false lumen behind calcified plaque","authors":"Yusuke Watanabe MD, PhD,&nbsp;Kenichi Sakakura MD, PhD,&nbsp;Hiroyuki Jinnouchi MD, PhD,&nbsp;Hideo Fujita MD, PhD, FJCC","doi":"10.1016/j.jccase.2024.11.007","DOIUrl":"10.1016/j.jccase.2024.11.007","url":null,"abstract":"<div><div>Coronary artery dissection is a common complication in percutaneous coronary intervention (PCI). The bailout procedure from coronary artery dissection is relatively simple if a guidewire remains within the true lumen. However, if the guidewire migrates into a dissection cavity separated by a calcified plaque, the bailout procedure is more difficult even for experienced interventional cardiologists. In this case report, we provide a bailout procedure for complicated coronary artery dissection, in which the guidewire was pushed out from the true lumen to the false lumen behind calcified plaque. The knowledge of guidewire bias and intravascular ultrasound-guided PCI was useful and the technique to strengthen the back-up support was necessary for the successful bailout.</div></div><div><h3>Learning objective</h3><div>Guidewire migration into the false lumen behind a calcified plaque is a rare complication, but the knowledge of a bailout method using guidewire bias and intravascular ultrasound is important.</div></div>","PeriodicalId":52092,"journal":{"name":"Journal of Cardiology Cases","volume":"31 3","pages":"Pages 72-75"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143519715","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 dilated cardiomyopathy successfully managing refractory electrical storm through sympathetic modulation 扩张型心肌病通过交感神经调节成功治疗难治性电风暴1例
Journal of Cardiology Cases Pub Date : 2025-03-01 DOI: 10.1016/j.jccase.2024.11.008
Phuong Ngo Thanh Nguyen MD , Akiko Ueda MD , Yumi Katsume MD , Noriko Nonoguchi MD , Takato Mohri MD , Yoshifumi Hirata MD , Haruhiko Kondo MD , Kunitaro Watanabe MD , Kyoko Soejima MD
{"title":"A case of dilated cardiomyopathy successfully managing refractory electrical storm through sympathetic modulation","authors":"Phuong Ngo Thanh Nguyen MD ,&nbsp;Akiko Ueda MD ,&nbsp;Yumi Katsume MD ,&nbsp;Noriko Nonoguchi MD ,&nbsp;Takato Mohri MD ,&nbsp;Yoshifumi Hirata MD ,&nbsp;Haruhiko Kondo MD ,&nbsp;Kunitaro Watanabe MD ,&nbsp;Kyoko Soejima MD","doi":"10.1016/j.jccase.2024.11.008","DOIUrl":"10.1016/j.jccase.2024.11.008","url":null,"abstract":"<div><div>Recent research has demonstrated the effectiveness of cardiac sympathetic denervation in treating ventricular arrhythmias. We present a patient with dilated cardiomyopathy characterized by ventricular tachycardia (VT) resistant to standard treatments. Repeated left-sided stellate ganglion blocks provided temporary relief, followed by a thoracoscopic sympathectomy with T2–4 ganglionectomy, which significantly reduced the burden of VT. This intervention also allowed for the gradual reduction of antiarrhythmics. During the course of the hospital stay, the patient's activities of daily living steadily improved. Approximately one month following the surgical surgery, the patient was successfully discharged with a reduced burden of VT.</div></div><div><h3>Learning objective</h3><div>Evaluate the efficacy of cardiac sympathetic denervation (CSD) and ganglionectomy in treating refractory ventricular tachycardia in patients with dilated cardiomyopathy. Identify the potential advantages of CSD and ganglionectomy in avoiding the necessity for therapeutic escalation in refractory ventricular tachycardia cases.</div></div>","PeriodicalId":52092,"journal":{"name":"Journal of Cardiology Cases","volume":"31 3","pages":"Pages 68-71"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143519714","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 breast cancer patient with chemotherapy-induced chronic lymphocytic myocarditis successfully treated with steroid therapy 乳腺癌患者化疗引起的慢性淋巴细胞性心肌炎成功治疗类固醇治疗
Journal of Cardiology Cases Pub Date : 2025-03-01 DOI: 10.1016/j.jccase.2024.11.005
Risako Kobata MD , Haruhiko Abe MD , Haruya Yamane MD , Masayuki Nakamura MD , Kiyoshi Mori MD, PhD , Tsuyoshi Mishima MD , Kuniyasu Ikeoka MD, PhD , Koichi Inoue MD, PhD , Yasunori Ueda MD, PhD, FJCC , Yasushi Matsumura MD, PhD
{"title":"A breast cancer patient with chemotherapy-induced chronic lymphocytic myocarditis successfully treated with steroid therapy","authors":"Risako Kobata MD ,&nbsp;Haruhiko Abe MD ,&nbsp;Haruya Yamane MD ,&nbsp;Masayuki Nakamura MD ,&nbsp;Kiyoshi Mori MD, PhD ,&nbsp;Tsuyoshi Mishima MD ,&nbsp;Kuniyasu Ikeoka MD, PhD ,&nbsp;Koichi Inoue MD, PhD ,&nbsp;Yasunori Ueda MD, PhD, FJCC ,&nbsp;Yasushi Matsumura MD, PhD","doi":"10.1016/j.jccase.2024.11.005","DOIUrl":"10.1016/j.jccase.2024.11.005","url":null,"abstract":"<div><div>A 63-year-old female patient with a history of postoperative recurrence of breast cancer after radiation therapy underwent chemotherapy with epirubicin (total 960 mg) and low-dose cyclophosphamide. She developed acute decompensated heart failure with reduced ejection fraction. Despite initial treatment with diuretics and inotropic drugs, her condition worsened, leading to low-output syndrome and frequent paroxysmal atrial fibrillation (AF). The patient underwent an endomyocardial biopsy and catheter ablation for AF. The endomyocardial biopsy revealed predominant lymphocyte invasion rather than cardiomyocyte injury, indicating drug-induced chronic lymphocytic myocarditis. The clinical course and biopsy findings indicated that other potential causes were unlikely, such as viral infection, collagen disease, and immune checkpoint inhibitor use. Following steroid pulse therapy, maintenance therapy with a starting dose of 80 mg of methylprednisolone (mPSL) led to a significant improvement in hemodynamics, resulting in her discharge on the 82nd day with an improved ejection fraction from 20 % to 42 %. A second endomyocardial biopsy under 20 mg of mPSL showed a marked improvement in lymphocytic infiltration. This case serves to illustrate the significance of endomyocardial biopsy in the context of refractory heart failure with an onco-cardiology case, whereby an appropriate diagnosis can be made and successful steroid therapy can be initiated.</div></div><div><h3>Learning objective</h3><div>Although heart failure after chemotherapy is frequently reported, reports of chronic lymphocytic myocarditis after chemotherapy are relatively uncommon. Endomyocardial biopsy has enabled the differential diagnosis of cardiac toxicity and has led to the diagnosis of lymphocytic myocarditis. Currently, the optimal treatment for chronic lymphocytic myocarditis remains unestablished. However, in this case, it was found that steroid therapy was effective.</div></div>","PeriodicalId":52092,"journal":{"name":"Journal of Cardiology Cases","volume":"31 3","pages":"Pages 57-60"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143519711","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 rapidly progressive Salmonella aortic aneurysm with acute pericarditis manifesting as a precursor 以急性心包炎为前兆的快速进展沙门氏菌主动脉瘤一例
Journal of Cardiology Cases Pub Date : 2025-03-01 DOI: 10.1016/j.jccase.2024.11.006
Koshiro Harada MD , Katsuya Kawagoe MD , Yunosuke Matsuura MD, PhD , Mana Kawano MD , Yosuke Suiko MD , Hiroki Tanaka MD , Kohei Moribayashi MD , Hirohito Ishii MD , Takeshi Ideguchi MD , Koji Furukawa MD, PhD , Koichi Kaikita MD, PhD, FJCC
{"title":"A case of rapidly progressive Salmonella aortic aneurysm with acute pericarditis manifesting as a precursor","authors":"Koshiro Harada MD ,&nbsp;Katsuya Kawagoe MD ,&nbsp;Yunosuke Matsuura MD, PhD ,&nbsp;Mana Kawano MD ,&nbsp;Yosuke Suiko MD ,&nbsp;Hiroki Tanaka MD ,&nbsp;Kohei Moribayashi MD ,&nbsp;Hirohito Ishii MD ,&nbsp;Takeshi Ideguchi MD ,&nbsp;Koji Furukawa MD, PhD ,&nbsp;Koichi Kaikita MD, PhD, FJCC","doi":"10.1016/j.jccase.2024.11.006","DOIUrl":"10.1016/j.jccase.2024.11.006","url":null,"abstract":"<div><div>We report a case of Salmonella cardiovascular infection presenting with acute pericarditis as a precursor to the rapid progression of aortic aneurysm. An 81-year-old man presented with persistent fever and chest pain worsened with inspiration and was admitted to a nearby hospital with a diagnosis of bacterial pericarditis. However, hoarseness emerged two days later, and the patient was transferred to our hospital because of concerns about extracardiac inflammatory foci. Computed tomography (CT) revealed a periaortic exudate and aortic arch aneurysm. After transfer, blood cultures confirmed Salmonella infection. Ampicillin (ABPC) was initiated for long-term treatment of Salmonella infection, and pericarditis was treated with ibuprofen and colchicine for approximately one month. The associated symptoms and inflammatory blood data significantly improved, but five weeks later, follow-up CT revealed enlargement of the arch aneurysm. Due to the patient's age and nutritional status, thoracic endovascular aortic repair (TEVAR) was performed along with continued ABPC. Postoperatively, the infection was well-controlled, and follow-up CT revealed a size reduction in the treated aneurysm. No recurrent Salmonella-related vascular events were observed for two years after TEVAR.</div></div><div><h3>Learning objective</h3><div>Acute pericarditis can present as a precursor to life-threatening vascular lesions associated with Salmonella infection and requires timely and appropriate diagnosis of the etiology behind the manifestation. Patients with aortic aneurysms caused by Salmonella often do not tolerate invasive surgical treatment when diagnosed, and the lesions progress rapidly. Therefore, endovascular treatment combined with long-term antibiotic therapy may be a practical option.</div></div>","PeriodicalId":52092,"journal":{"name":"Journal of Cardiology Cases","volume":"31 3","pages":"Pages 76-79"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143519716","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
Mitral valve transcatheter edge-to-edge repair as bridge therapy in a middle-aged patient with Marfan syndrome 二尖瓣经导管边缘到边缘修复作为桥梁治疗中年马凡氏综合征患者
Journal of Cardiology Cases Pub Date : 2025-03-01 DOI: 10.1016/j.jccase.2024.12.002
Takuma Iwaya MD , Makoto Amaki MD, PhD , Hideaki Kanzaki MD, PhD, FJCC , Chisato Izumi MD, PhD, FJCC
{"title":"Mitral valve transcatheter edge-to-edge repair as bridge therapy in a middle-aged patient with Marfan syndrome","authors":"Takuma Iwaya MD ,&nbsp;Makoto Amaki MD, PhD ,&nbsp;Hideaki Kanzaki MD, PhD, FJCC ,&nbsp;Chisato Izumi MD, PhD, FJCC","doi":"10.1016/j.jccase.2024.12.002","DOIUrl":"10.1016/j.jccase.2024.12.002","url":null,"abstract":"<div><div>A 45-year-old man was hospitalized at our institution due to congestive heart failure. He had a history of Marfan syndrome and four previous cardiovascular surgeries, including aortic valve replacement with a bioprosthetic valve 9 years previously. Transthoracic echocardiography revealed a myxomatous change of the mitral valve and severe mitral regurgitation (MR). After a thorough discussion, including the durability of a bioprosthetic valve, mitral valve transcatheter edge-to-edge repair (M-TEER) was performed as a bridge to the next cardiovascular surgeries. After the procedure, MR was reduced to mild, and his symptoms significantly improved. The patient has been doing well for 2 years after M-TEER.</div></div><div><h3>Learning objective</h3><div>The development of catheterization therapy for valvular disease has been remarkable. As the indication of transcatheter therapy for valvular heart disease is extending to lower-risk and relatively younger patients, a heart team should thoughtfully discuss lifetime management with each patient, especially relatively young patients.</div></div>","PeriodicalId":52092,"journal":{"name":"Journal of Cardiology Cases","volume":"31 3","pages":"Pages 88-91"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143519790","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
Pacemaker lead fracture caused by strong lead bending in the pocket with the fixation of the generator in the low prothoracic position 起搏器导联断裂是由于导联在低胸位固定时,导联在导联袋内强烈弯曲所致
Journal of Cardiology Cases Pub Date : 2025-03-01 DOI: 10.1016/j.jccase.2024.11.009
Shun Akai MD , Takahiko Nagase MD , Yukio Sekiguchi MD , Mitsunori Ishino MD , Ryuichi Kato MD, FJCC
{"title":"Pacemaker lead fracture caused by strong lead bending in the pocket with the fixation of the generator in the low prothoracic position","authors":"Shun Akai MD ,&nbsp;Takahiko Nagase MD ,&nbsp;Yukio Sekiguchi MD ,&nbsp;Mitsunori Ishino MD ,&nbsp;Ryuichi Kato MD, FJCC","doi":"10.1016/j.jccase.2024.11.009","DOIUrl":"10.1016/j.jccase.2024.11.009","url":null,"abstract":"<div><div>Lead fractures of pacemakers can occur over time. However, the entire mechanisms or sites of lead fractures remain unclear. In addition, fixation of the pacemaker generators and leads depends on the operators and the tips on proper fixation remain unclear. A 64-year-old male underwent permanent dual-chamber pacemaker implantation for complete atrioventricular block by extrathoracic axillary vein puncture eight years previously. The generator was routinely fixed to the pectoralis major muscle within the left anterior chest pacemaker pocket by suturing a nylon ligature through the suture hole. However, five months ago, complete atrial lead failure was confirmed. The chest X-ray and X-ray fluoroscopy revealed strong lead bending of the atrial lead in the pacemaker pocket with the fixation of the generator in the low prothoracic position. We successfully extracted the fractured atrial lead by using an excimer laser and implanted a new atrial pacemaker lead in the right atrium. In the extraction of the fractured atrial lead, the atrial lead was almost disconnected along with strong lead bending in the pacemaker pocket as expected from preprocedural X-rays. This report indicates the precautions in fixation of pacemaker leads in the pacemaker pocket.</div></div><div><h3>Learning objective</h3><div>The stress-free fixation of pacemaker leads should be cautious to avoid the risk of lead failure in the long-term after the procedure. In addition, less tortuous vascular lead path, more caudal can location, and large angle of lead exit from the pocket associated with the puncture site or angle of axillary vein in the pacemaker implantation can cause strong lead bending and lead fractures. These findings can be detected in the X-ray.</div></div>","PeriodicalId":52092,"journal":{"name":"Journal of Cardiology Cases","volume":"31 3","pages":"Pages 65-67"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143519713","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 novel SMAD9 nonsense variant in an 11-year-old Japanese patient with diffuse pulmonary arteriovenous malformation: A case report 一个新的SMAD9无义变异在一个11岁的日本患者弥漫性肺动静脉畸形:一个病例报告
Journal of Cardiology Cases Pub Date : 2025-03-01 DOI: 10.1016/j.jccase.2024.11.010
Yumiko Asai MD , Kazuyoshi Saito MD, PhD , Keiko Ohta-Ogo MD, PhD , Kinta Hatakeyama MD, PhD , Eiko Sakurai MD, PhD , Hokuto Akamatsu MD, PhD , Daijiro Suzuki MD, PhD , Arisa Kojima MD, PhD , Hidetoshi Uchida MD, PhD , Yoichi Nakajima MD, PhD , Tadayoshi Hata MD, PhD , Yasushi Hoshikawa MD, PhD , Tetsushi Yoshikawa MD, PhD
{"title":"A novel SMAD9 nonsense variant in an 11-year-old Japanese patient with diffuse pulmonary arteriovenous malformation: A case report","authors":"Yumiko Asai MD ,&nbsp;Kazuyoshi Saito MD, PhD ,&nbsp;Keiko Ohta-Ogo MD, PhD ,&nbsp;Kinta Hatakeyama MD, PhD ,&nbsp;Eiko Sakurai MD, PhD ,&nbsp;Hokuto Akamatsu MD, PhD ,&nbsp;Daijiro Suzuki MD, PhD ,&nbsp;Arisa Kojima MD, PhD ,&nbsp;Hidetoshi Uchida MD, PhD ,&nbsp;Yoichi Nakajima MD, PhD ,&nbsp;Tadayoshi Hata MD, PhD ,&nbsp;Yasushi Hoshikawa MD, PhD ,&nbsp;Tetsushi Yoshikawa MD, PhD","doi":"10.1016/j.jccase.2024.11.010","DOIUrl":"10.1016/j.jccase.2024.11.010","url":null,"abstract":"<div><div>Most cases of pulmonary arteriovenous malformation (PAVM) are associated with hereditary hemorrhagic telangiectasia (HHT). HHT is typically caused by loss-of-function gene mutations in the genes <em>ENG</em>, <em>ACVRL1</em>, or <em>SMAD4</em>, all participating in transforming growth factor β (TGF-β) family signaling pathways. We describe the case of an 11-year-old Japanese girl with PAVM, with no known family history of HHT or similar disease. She was found to carry a novel nonsense variant in <em>SMAD9</em> (SMAD9-p. T267*), which we speculate contributed to her disease, because <em>SMAD9</em> also participates in TGF-β family signaling pathways. <em>SMAD9</em> mutations have been linked with pulmonary arterial hypertension (PAH), and, hence, mutations in <em>SMAD9</em>—as for <em>ENG</em>, <em>ACVRL1</em>, and <em>SMAD4</em>—may predispose to both PAH and HHT(−characteristic) disease features. The PAVM in our patient spread diffusely inside the lower lobe of the left lung, and coil embolization was considered difficult. Therefore, after feasibility assessment by performing a balloon occlusion test during cardiac catheterization, left lower lobectomy was performed. The patient's dyspnea recovered well postoperatively, and two years later an increase in left lung volume was observed and disease symptoms had not recurred. Thus, if PAVM spreads diffusely in a certain lung area, surgical treatment can be a viable option.</div></div><div><h3>Learning objective</h3><div><em>SMAD9</em> gene mutations have been linked to pulmonary arterial hypertension (PAH). However, their associations with hereditary hemorrhagic telangiectasia (HHT) or pulmonary arteriovenous malformation (PAVM), which usually is HHT-associated, have not been reported previously. Our PAVM patient carrying a <em>SMAD9</em> variant suggests that mutations in this gene, like in others participating in TGF-β family signaling pathways (like <em>ENG</em>, <em>ACVRL1</em>, and <em>SMAD4</em>), predispose to both PAH and HHT(−characteristic) disease features. Diffuse PAVM confined to a lung area may be treated by lobectomy.</div></div>","PeriodicalId":52092,"journal":{"name":"Journal of Cardiology Cases","volume":"31 3","pages":"Pages 80-83"},"PeriodicalIF":0.0,"publicationDate":"2025-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143519717","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
Transcatheter closure of an aorta to left atrial fistula with a cocoon membranous ventricular septal defect occluder in a septuagenarian patient 用茧膜性室间隔缺损封堵器经导管关闭左心房瘘主动脉1例
Journal of Cardiology Cases Pub Date : 2025-03-01 DOI: 10.1016/j.jccase.2024.11.003
Anil Kumar Singhi MD, FNB , Soumya Kanti Mohapatra MD , Soumyajit Ghosh MD , Arnab De MBA
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