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A case for genetic testing: Arrhythmogenic cardiomyopathy presenting as myocarditis. 基因检测病例:表现为心肌炎的心律失常性心肌病。
IF 0.9 Q4 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2024-01-01 Epub Date: 2024-05-24 DOI: 10.4103/apc.apc_122_23
Rachelle E Srinivas, Lydia K Wright, Deipanjan Nandi, Emily A Hayes

Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiomyopathy associated with fibrofatty tissue replacement of the ventricular tissue. The disease can cause ventricular dysfunction and arrhythmias and can increase the risk of sudden cardiac death. This cardiomyopathy can have variable clinical presentations, especially in the pediatric and young adult populations. In this report, we describe the case of an 18-year-old female with myocarditis as the initial presentation of ACM. She presented following a resuscitated cardiac arrest due to ventricular arrhythmia. On arrival, myocardial edema and delayed gadolinium enhancement were present on cardiac magnetic resonance imaging, with no ventricular changes observed, making the diagnosis consistent with myocarditis. Genetic testing revealed a pathogenic mutation in the desmoplakin gene consistent with ACM. Given the unconventional initial presentation of this patient's disease, early consideration of genetic testing may be beneficial to aid in the early diagnosis and management of ACM in young patients.

心律失常性心肌病(ACM)是一种与心室组织纤维脂肪组织替代有关的遗传性心肌病。该病可导致心室功能障碍和心律失常,并可增加心脏性猝死的风险。这种心肌病的临床表现多种多样,尤其是在儿童和年轻人群中。在本报告中,我们描述了一例以心肌炎作为 ACM 最初表现的 18 岁女性病例。她因室性心律失常导致心脏骤停,经抢救无效死亡。到达医院时,心脏磁共振成像显示心肌水肿和延迟钆增强,但未观察到心室病变,因此诊断与心肌炎一致。基因检测发现去瘤素基因发生了致病突变,与 ACM 相吻合。鉴于该患者的最初表现并不常见,及早考虑进行基因检测可能有助于早期诊断和治疗年轻患者的 ACM。
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引用次数: 0
Coronary arteriopathy in a patient with Noonan phenotype: Case report. 一名努南表型患者的冠状动脉病变:病例报告。
IF 0.9 Q4 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2024-01-01 Epub Date: 2024-05-24 DOI: 10.4103/apc.apc_145_23
Simran Jain, M S Ravindra, Yogesh Chintaman Sathe, Snehal M Kulkarni, Ashish Banpurkar

Noonan syndrome (NS) is a pleomorphic genetic disorder. Up to 50-80% of individuals have associated congenital heart disease. The scope of cardiac disease in NS is quite variable depending on the gene mutation. The most common forms of cardiac defects include pulmonary stenosis, hypertrophic cardiomyopathy (HCM), atrial septal defect and left-sided lesions. Amongst the rare vascular abnormalities few case reports have been mentioned about coronary artery lesions apart from sinus of Valsalva aneurysm, aortic dissection, intracranial aneurysm. This is a case report a rare case of asymptomatic coronary artery aneurysm in a young male with NS. There is lack of unified protocol for the screening, diagnosis, treatment, and follow-up of coronary artery disease in patients with NS. We conclude, echocardiography is sufficient in most cases in children. But a CT scan is appropriate in adults or when other lesions are suspected.

努南综合征(NS)是一种多形性遗传疾病。高达 50-80% 的患者伴有先天性心脏病。NS的心脏疾病范围因基因突变而异。最常见的心脏缺陷包括肺动脉狭窄、肥厚型心肌病(HCM)、房间隔缺损和左侧病变。在罕见的血管畸形中,除了瓦尔萨尔瓦窦动脉瘤、主动脉夹层和颅内动脉瘤外,关于冠状动脉病变的病例报告寥寥无几。本病例报告了一例罕见的无症状冠状动脉动脉瘤病例,患者为一名患有 NS 的年轻男性。目前还没有统一的方案来筛查、诊断、治疗和随访 NS 患者的冠状动脉疾病。我们的结论是,在大多数儿童病例中,超声心动图检查就足够了。但对于成人或怀疑有其他病变时,则应进行 CT 扫描。
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引用次数: 0
Cryoablation for the Para-Hisian accessory pathway: Early Indian experience. 冷冻消融治疗副希氏支路:印度的早期经验。
IF 0.9 Q4 CARDIAC & CARDIOVASCULAR SYSTEMS Pub Date : 2024-01-01 Epub Date: 2024-05-24 DOI: 10.4103/apc.apc_182_23
Nayani Makkar, Jyothi Vijay, P Abhilash Sreevilasam, Narayanan Namboodiri
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引用次数: 0
Is it time to consider a population health approach and health policy planning in pediatric cardiac workforce planning? 在小儿心脏科医务人员队伍规划中考虑人口健康方法和卫生政策规划的时机是否成熟?
IF 0.7 Q3 Medicine Pub Date : 2023-11-01 Epub Date: 2024-04-23 DOI: 10.4103/apc.apc_171_23
Bistra Zheleva, Veeralakshmi Rajasekhar
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引用次数: 0
Unveiling post-MIS-N cardiomyopathy by longitudinal multimodality global cardiac assessment from neonatal insult to 16-month follow-up. 通过从新生儿受损伤到 16 个月随访的纵向多模态整体心脏评估,揭示 MIS-N 后心肌病。
IF 0.7 Q3 Medicine Pub Date : 2023-11-01 Epub Date: 2024-04-23 DOI: 10.4103/apc.apc_114_23
Maitri Chaudhuri, Munesh Tomar, Balasubramanyam Shankar

A full-term male neonate presented on the 11th day of life with late-onset multisystem inflammatory syndrome-neonate (MIS-N) (cardioneurological compromise). Immediate anti-inflammatory modulation led to a gradual recovery of neurological and coronary lesions. However, temporal evaluation unmasked silent myocardial dysfunction in echocardiography validated further by elevated biomarkers, myocardial fibrosis in cardiac magnetic resonance imaging, and abnormal strain study persisting till 16 months of follow-up. This revealed a hitherto unknown and rare progression of MIS-N into dilated cardiomyopathy.

一名足月男新生儿在出生后第 11 天出现晚期多系统炎症综合征-新生儿(MIS-N)(心脏神经系统受损)。立即进行抗炎治疗后,神经和冠状动脉病变逐渐恢复。然而,时间评估揭示了超声心动图中无声的心肌功能障碍,生物标志物的升高、心脏磁共振成像中的心肌纤维化和异常应变研究进一步证实了这一点,并一直持续到 16 个月的随访。这揭示了 MIS-N 向扩张型心肌病发展的迄今未知的罕见情况。
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引用次数: 0
Normal pulmonary venous drainage in the setting of total anomalous pulmonary venous connection. 在肺静脉连接完全异常的情况下,肺静脉引流正常。
IF 0.7 Q3 Medicine Pub Date : 2023-11-01 Epub Date: 2024-04-23 DOI: 10.4103/apc.apc_183_21
Saikiran Kakarla, Deepa Sasikumar, Harikrishnan K N Kurup, Jineesh Valakkada

Total anomalous pulmonary venous connection (TAPVC) and anomalous pulmonary venous drainage are not synonymous. This has been described in the setting of right isomerism (bilateral right sidedness) where the pulmonary veins are connected anomalously but drain normally to the left-sided morphological right atrium. We describe another situation in right isomerism where normal pulmonary venous drainage is present in the setting of TAPVC.

全异常肺静脉连接(TAPVC)和异常肺静脉引流并非同义词。在右侧异位症(双侧偏右)的情况下,肺静脉连接异常,但正常引流至左侧形态右心房。我们描述了右侧异位症的另一种情况,即在 TAPVC 的情况下肺静脉引流正常。
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引用次数: 0
Differences in outcomes between surgical pericardial window and pericardiocentesis in children with postpericardiotomy syndrome. 手术开心包窗与心包穿刺术对心包切开术后综合征患儿疗效的差异。
IF 0.7 Q3 Medicine Pub Date : 2023-11-01 Epub Date: 2024-04-23 DOI: 10.4103/apc.apc_108_23
Joshua T Fields, Conor P O'Halloran, Paul Tannous, Brock A Karolcik, Scott M Bradley, Minoo N Kavarana, John F Rhodes, Eric M Graham, John M Costello

Children with postpericardiotomy syndrome may develop hemodynamically significant pericardial effusions warranting drainage by surgical pericardial window or pericardiocentesis. The optimal approach is unknown. We performed a retrospective observational study at two pediatric cardiac centers. We included 42 children aged <18 years who developed postpericardiotomy syndrome following cardiac surgery between 2014 and 2021. Thirty-two patients underwent pericardial window and 10 underwent pericardiocentesis. Patients in the pericardial window group presented with postpericardiotomy syndrome sooner than those who underwent pericardiocentesis (median 7.5 days vs. 14.5 days, P = 0.03) and tended to undergo earlier intervention (median 8 days vs. 16 days, P = 0.16). No patient required subsequent drainage. There were no differences between groups in days of pericardial tube duration (median 4 days), complications, and subsequent days of intensive care or hospitalization. For children with postpericardiotomy syndrome with a pericardial effusion warranting drainage, these data suggest that pericardial window and pericardiocentesis have similar efficacy, safety, and resource utilization.

患有心包切开术后综合征的儿童可能会出现血流动力学意义上的心包积液,需要通过手术心包开窗或心包穿刺引流。最佳方法尚不清楚。我们在两家儿科心脏中心进行了一项回顾性观察研究。我们纳入了 42 名患儿,年龄 P = 0.03),并倾向于更早进行干预(中位数为 8 天 vs. 16 天,P = 0.16)。没有患者需要后续引流。在心包插管天数(中位数为 4 天)、并发症以及随后的重症监护或住院天数方面,组间没有差异。这些数据表明,对于患有心包切除术后综合征并伴有需要引流的心包积液的患儿,心包开窗术和心包穿刺术具有相似的疗效、安全性和资源利用率。
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引用次数: 0
Precision medicine in catecholaminergic polymorphic ventricular tachycardia: Recent advances toward personalized care. 儿茶酚胺能多态性室性心动过速的精准医疗:个性化治疗的最新进展。
IF 0.7 Q3 Medicine Pub Date : 2023-11-01 Epub Date: 2024-04-23 DOI: 10.4103/apc.apc_96_23
Anthony Siu, Edelyne Tandanu, Brian Ma, Evbayekha Endurance Osas, Haipeng Liu, Tong Liu, Oscar Hou In Chou, Helen Huang, Gary Tse

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited cardiac ion channelopathy where the initial disease presentation is during childhood or adolescent stages, leading to increased risks of sudden cardiac death. Despite advances in medical science and technology, several gaps remain in the understanding of the molecular mechanisms, risk prediction, and therapeutic management of patients with CPVT. Recent studies have identified and validated seven sets of genes responsible for various CPVT phenotypes, including RyR2, CASQ-2, TRDN, CALM1, 2, and 3, and TECRL, providing novel insights into the molecular mechanisms. However, more data on atypical CPVT genotypes are required to investigate the underlying mechanisms further. The complexities of the underlying genetics contribute to challenges in risk stratification as well as the uncertainty surrounding nongenetic modifiers. Therapeutically, although medical management involving beta-blockers and flecainide, or insertion of an implantable cardioverter defibrillator remains the mainstay of treatment, animal and stem cell studies on gene therapy for CPVT have shown promising results. However, its clinical applicability remains unclear. Current gene therapy studies have primarily focused on the RyR2 and CASQ-2 variants, which constitute 75% of all CPVT cases. Alternative approaches that target a broader population, such as CaMKII inhibition, could be more feasible for clinical implementation. Together, this review provides an update on recent research on CPVT, highlighting the need for further investigation of the molecular mechanisms, risk stratification, and therapeutic management of this potentially lethal condition.

儿茶酚胺能多态性室性心动过速(CPVT)是一种罕见的遗传性心脏离子通道病变,最初发病年龄在儿童或青少年阶段,导致心脏性猝死的风险增加。尽管医学科技在不断进步,但人们对 CPVT 患者的分子机制、风险预测和治疗管理的认识仍存在一些差距。最近的研究发现并验证了导致各种 CPVT 表型的七组基因,包括 RyR2、CASQ-2、TRDN、CALM1、2 和 3 以及 TECRL,为分子机制提供了新的见解。然而,还需要更多关于非典型 CPVT 基因型的数据来进一步研究其潜在机制。潜在遗传学的复杂性导致了风险分层的挑战以及非遗传修饰因子的不确定性。在治疗方面,虽然使用β-受体阻滞剂和非卡尼或植入式心脏除颤器的药物治疗仍是主要手段,但有关 CPVT 基因治疗的动物和干细胞研究已显示出良好的效果。然而,其临床适用性仍不明确。目前的基因治疗研究主要集中在 RyR2 和 CASQ-2 变体上,这两种变体占所有 CPVT 病例的 75%。针对更广泛人群的替代方法(如 CaMKII 抑制)在临床应用中可能更加可行。综上所述,本综述介绍了 CPVT 的最新研究进展,强调了进一步研究这种潜在致命疾病的分子机制、风险分层和治疗管理的必要性。
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引用次数: 0
Partial anomalous systemic venous drainage, right superior vena cava to the left atrium in nonisomeric patient. 非异体患者右上腔静脉至左心房的部分异常系统静脉引流。
IF 0.7 Q3 Medicine Pub Date : 2023-11-01 Epub Date: 2024-04-23 DOI: 10.4103/apc.apc_93_23
Salem Deraz, Olfat Alzaabi, Anshad Ummerkhan, Sidra Abdul Hakeem, Hamza Elnady, Ahmed Al Kamali

The most encountered anomalous systemic venous drainage is a persistent left superior vena cava that drains into the right atrium through the coronary sinus. A much rarer anomalous systemic venous drainage is that of isolated anomalous drainage of a normally positioned right superior vena cava (RSVC) into the left atrium (LA). This has been reported in approximately 20 patients, with the diagnosis usually made by cardiac catheterization. We report the youngest case diagnosed at the age of 3 h after birth with hypoxemia resulting from anomalous drainage of a normal RSVC into the LA. This was diagnosed noninvasively by echocardiography and confirmed by cardiac computed tomography angiography.

最常见的全身静脉异常引流是持续存在的左上腔静脉通过冠状窦引流至右心房。更罕见的全身静脉异常引流是位置正常的右上腔静脉(RSVC)向左心房(LA)的孤立异常引流。据报道,大约有 20 例患者出现这种情况,通常通过心导管检查确诊。我们报告了一例最年轻的病例,患者在出生后 3 小时就被诊断出因正常的 RSVC 异常排入 LA 而导致低氧血症。该病例通过超声心动图无创确诊,并经心脏计算机断层扫描血管造影术证实。
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引用次数: 0
Pediatric cardiology in India - In search of a holistic solution. 印度小儿心脏病学--寻求整体解决方案。
IF 0.7 Q3 Medicine Pub Date : 2023-11-01 Epub Date: 2024-04-23 DOI: 10.4103/apc.apc_58_24
Jaganmohan A Tharakan, Rajesh Sharma, Raghavan Subramanyan, Anita Saxena, Snehal M Kulkarni, Jay Relan, Sivasubramanian Ramakrishnan

In response to the survey among early career pediatric cardiologists from India and the accompanying editorial, we invited comments and suggestions from thought leaders and senior functionaries in the field. We have summarized the thoughts and suggestions as a mini-symposium.

针对在印度早期职业儿科心脏病专家中开展的调查和随附的社论,我们邀请该领域的思想领袖和资深专家提出意见和建议。我们将这些意见和建议总结成一个小型研讨会。
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引用次数: 0
期刊
Annals of Pediatric Cardiology
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