Cardiogenetics最新文献

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Clinical and Molecular Characteristics of Patients with PLN R14del Cardiomyopathy: State-of-the-Art Review PLN R14del型心肌病患者的临床和分子特征:最新进展综述

IF 0.6 Q4 CARDIAC & CARDIOVASCULAR SYSTEMS

Cardiogenetics

Pub Date : 2022-03-02 DOI: 10.3390/cardiogenetics12010012

E. Monda, E. Blasi, A. De Pasquale, A. Di Vilio, Federica Amodio, M. Caiazza, Gaetano Diana, M. Lioncino, A. Perna, F. Verrillo, M. Martucci, Orlando Munciguerra, A. Vergara, G. Limongelli

The deletion of the arginine 14 codon (R14del) in the phospholamban (PLN) gene is a rare cause of arrhythmogenic cardiomyopathy (ACM) and is associated with prevalent ventricular arrhythmias, heart failure, and sudden cardiac death. The pathophysiological mechanism which culminates in the ACM phenotype is multifactorial and mainly based on the alteration of the endoplasmic reticulum proteostasis, mitochondrial dysfunction and compromised Ca2+ cytosolic homeostasis. The symptoms of this condition are usually non-specific and consist of arrhythmia-related or heart failure-related manifestation; however, some peculiar diagnostic clues were detected, such as the T-wave inversion in the lateral leads, low QRS complexes voltages, mid-wall or epicardial fibrosis of the inferolateral wall of the left ventricle, and their presence should raise the suspicion of this condition. The risk stratification for sudden cardiac death is mandatory and several predictors were identified in recent years. However, the management of affected patients is often challenging due to the absence of specific prediction tools and therapies. This review aims to provide the current state of the art of PLN R14del cardiomyopathy, focusing on its pathophysiology, clinical manifestation, risk stratification for sudden cardiac death, and management.

磷蛋白(PLN)基因中精氨酸14密码子(R14del)的缺失是致心律失常性心肌病(ACM)的罕见原因，并与常见的室性心律失常、心力衰竭和心源性猝死有关。最终导致ACM表型的病理生理机制是多因素的，主要基于内质网蛋白平衡的改变、线粒体功能障碍和Ca2+胞浆内平衡受损。这种疾病的症状通常是非特异性的，包括与心律失常或心力衰竭相关的表现;然而，发现了一些特殊的诊断线索，如侧导联t波倒置，低QRS复合物电压，左心室外壁内壁中壁或心外膜纤维化，它们的存在应引起对该病的怀疑。心源性猝死的风险分层是强制性的，近年来发现了几个预测因素。然而，由于缺乏特定的预测工具和治疗方法，受影响患者的管理往往具有挑战性。本综述旨在提供PLN R14del心肌病的最新进展，重点介绍其病理生理、临床表现、心源性猝死的危险分层和治疗。

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引用次数: 0

Cardiovascular Characteristics of Patients with Genetic Variation in Desmoplakin (DSP). Desmoplakin (DSP)遗传变异患者的心血管特征。

IF 0.6 Q4 CARDIAC & CARDIOVASCULAR SYSTEMS

Cardiogenetics

Pub Date : 2022-03-01 Epub Date: 2022-01-06 DOI: 10.3390/cardiogenetics12010003

Nosheen Reza, Alejandro de Feria, Jessica L Chowns, Lily Hoffman-Andrews, Laura Vann, Jessica Kim, Amy Marzolf, Anjali Tiku Owens

Background: Variants in the desmoplakin (DSP) gene have been recognized in association with the pathogenesis of arrhythmogenic right ventricular cardiomyopathy (ARVC) for nearly 20 years. More recently, genetic variation in DSP has also been associated with left-dominant arrhythmogenic cardiomyopathy. Data regarding the cardiac phenotypes associated with genetic variation in DSP have been largely accumulated from phenotype-first studies of ARVC.

Methods: We aimed to evaluate the clinical manifestations of cardiac disease associated with variants in DSP through a genotype-first approach employed in the University of Pennsylvania Center for Inherited Cardiovascular Disease registry. We performed a retrospective study of 19 individuals with "pathogenic" or "likely pathogenic" variants in DSP identified by clinical genetic testing. Demographics and clinical characteristics were collected.

Results: Among individuals with disease-causing variants in DSP, nearly 40% had left ventricular enlargement at initial assessment. Malignant arrhythmias were prevalent in this cohort (42%) with a high proportion of individuals undergoing primary and secondary prevention implantable cardioverter defibrillator implantation (68%) and ablation of ventricular arrhythmias (16%). Probands also experienced end-stage heart failure requiring heart transplantation (11%).

Conclusions: Our data suggest DSP cardiomyopathy may manifest with a high burden of heart failure and arrhythmic events, highlighting its importance in the pathogenesis of dilated and arrhythmogenic cardiomyopathies. Targeted strategies for diagnosis and risk stratification for DSP cardiomyopathy should be investigated.

背景:近20年来，desmoplakin (DSP)基因变异被认为与心律失常性右室心肌病(ARVC)的发病机制有关。最近，DSP的遗传变异也与左显性心律失常性心肌病有关。与DSP遗传变异相关的心脏表型数据主要是从ARVC的表型优先研究中积累起来的。方法:我们旨在通过宾夕法尼亚大学遗传心血管疾病中心采用的基因型优先方法，评估与DSP变异相关的心脏病的临床表现。我们对19例通过临床基因检测发现的DSP“致病性”或“可能致病性”变异的个体进行了回顾性研究。收集人口统计学和临床特征。结果:在具有DSP致病变异的个体中，近40%在初始评估时左心室增大。恶性心律失常在该队列中普遍存在(42%)，其中接受一级和二级预防植入式心律转复除颤器植入(68%)和室性心律失常消融(16%)的个体比例很高。先证者也经历终末期心力衰竭，需要心脏移植(11%)。结论:我们的数据表明DSP心肌病可能表现为心力衰竭和心律失常事件的高负担，突出了其在扩张型和心律失常性心肌病发病机制中的重要性。对DSP心肌病的有针对性的诊断策略和风险分层应进行探讨。

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引用次数: 4

Publisher’s Note: We Changed Page Numbers to Article Numbers for Articles Published in Cardiogenetics Volume 1–Volume 10, Issue 1 出版商注意：我们将《心脏遗传学》第1卷-第10卷第1期文章的页码更改为文章编号

IF 0.6 Q4 CARDIAC & CARDIOVASCULAR SYSTEMS

Cardiogenetics

Pub Date : 2022-02-25 DOI: 10.3390/cardiogenetics12010011

Previously, Cardiogenetics [1] was published by PAGEPress from Volume 1 (2011) to Volume 10, Issue 1 (2020) [...]

此前，《心脏遗传学》[1]由PAGEPress出版，从2011年第1卷至2020年第10卷第1期[…]

引用次数: 0

Diagnosis of Fabry Disease in a Patient with a Surgically Repaired Congenital Heart Defect: When Clinical History and Genetics Make the Difference 法布里病的诊断患者手术修复先天性心脏缺陷:当临床病史和遗传学的差异

IF 0.6 Q4 CARDIAC & CARDIOVASCULAR SYSTEMS

Cardiogenetics

Pub Date : 2022-02-25 DOI: 10.3390/cardiogenetics12010010

M. Rubino, E. Monda, M. Caiazza, G. Palmiero, M. Lioncino, A. Cirillo, A. Fusco, F. Verrillo, A. Perna, Gaetano Diana, Federica Amodio, A. Cesaro, G. Duro, B. Sarubbi, M. Russo, P. Calabrò, G. Limongelli

Fabry disease (FD) is a multiorgan disease, which can potentially affect any organ or tissue, with the heart, kidneys, and central nervous system representing the major disease targets. FD can be suspected based on the presence of specific red flags, and the subsequent evaluation of the α-Gal A activity and GLA sequencing, are required to confirm the diagnosis, to evaluate the presence of amenable GLA mutation, and to perform a cascade program screening in family members. An early diagnosis is required to start an etiological treatment and to prevent irreversible organ damage. Here, we describe a case of a 37-years-old patient, with a surgically repaired congenital heart defect in his childhood, who had a late diagnosis of FD based on the clinical history and targeted genetic evaluation. This case highlights the importance to perform a correct phenotyping and definite diagnosis of FD, to start an early and appropriate treatment in the index patient, and a cascade clinical and genetic screening to identify other family members at risk, which may benefit from specific treatment and/or a close follow-up.

法布里病(FD)是一种多器官疾病，它可以潜在地影响任何器官或组织，以心脏、肾脏和中枢神经系统为主要疾病目标。FD可根据特异性危险信号的存在进行怀疑，随后需要评估α-Gal A活性和GLA测序，以确认诊断，评估是否存在可调节的GLA突变，并在家庭成员中进行级联程序筛选。早期诊断是开始病原学治疗和防止不可逆转的器官损害的必要条件。在这里，我们描述了一个37岁的患者，他在童年时手术修复了先天性心脏缺陷，根据临床病史和针对性的遗传评估，他被诊断为FD。该病例强调了对FD进行正确的表型分型和明确诊断的重要性，对索引患者进行早期和适当的治疗，并进行级联临床和遗传筛查以确定其他有风险的家庭成员，这可能受益于特定治疗和/或密切随访。

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引用次数: 1

Genetic Diagnostics Contribute to the Risk Stratification for Major Arrhythmic Events in Pediatric Patients with Long QT Syndrome Type 1–3 遗传诊断有助于长QT综合征1-3型儿童患者主要心律失常事件的风险分层

IF 0.6 Q4 CARDIAC & CARDIOVASCULAR SYSTEMS

Cardiogenetics

Pub Date : 2022-02-21 DOI: 10.3390/cardiogenetics12010009

T. Burkard, D. Westphal, F. Markel, R. Gebauer, G. Hessling, C. Wolf

Long QT syndrome (LQTS) is an inherited arrhythmic disorder associated with sudden cardiac death (SCD). This study aimed to identify the clinical and molecular genetic risk factors that contribute to major arrhythmic events (MAEs) in patients with genetically confirmed childhood onset LQTS 1–3. This study was a retrospective double-center study. An MAE was defined as the occurrence of SCD, aborted SCD, appropriate implantable cardioverter defibrillator discharge, or sustained ventricular tachycardia. During a median follow-up of 4.6 years (range 0.1–24.3 years), MAEs occurred in 18 (17.8%) of 101 patients diagnosed with LQTS at a median of 7.7 years (range 0.0–18.0 years) despite the use of beta-blockers in 91.6% of patients at the last follow-up. A multivariate analysis identified a genetic diagnosis of LQTS2 and LQTS3 and variants within the KCNH2 S5-loop-S6 pore region as independent risk factors for MAEs, independent of the QTc value or a history of syncope detected from a univariate analysis. MAEs occur frequently in childhood onset LQTS despite beta-blocker treatment. A detailed molecular genetic diagnosis can contribute to the arrhythmia risk stratification and optimize the use of preventive measures in this vulnerable patient population.

长QT综合征(LQTS)是一种与心源性猝死(SCD)相关的遗传性心律失常。本研究旨在确定在遗传证实的儿童期发病LQTS 1-3患者中导致主要心律失常事件(MAEs)的临床和分子遗传风险因素。本研究为回顾性双中心研究。MAE定义为SCD的发生、SCD流产、适当的植入式心律转复除颤器放电或持续性室性心动过速。在中位4.6年(0.1-24.3年)的随访期间，101例诊断为LQTS的患者中有18例(17.8%)发生MAEs，中位随访时间为7.7年(0.0-18.0年)，尽管在最后一次随访时91.6%的患者使用了β受体阻滞剂。一项多因素分析发现，LQTS2和LQTS3的遗传诊断以及KCNH2 S5-loop-S6孔区的变异是MAEs的独立危险因素，与单因素分析中检测到的QTc值或晕厥史无关。尽管有β受体阻滞剂治疗，MAEs在儿童期发病的LQTS中仍经常发生。详细的分子遗传学诊断有助于心律失常风险分层和优化预防措施的使用。

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引用次数: 0

Acknowledgment to Reviewers of Cardiogenetics in 2021 2021年心脏遗传学综述

IF 0.6 Q4 CARDIAC & CARDIOVASCULAR SYSTEMS

Cardiogenetics

Pub Date : 2022-02-17 DOI: 10.3390/cardiogenetics12010008

Rigorous peer-reviews are the basis of high-quality academic publishing [...]

严谨的同行评审是高质量学术出版的基础〔…〕

引用次数: 0

Pharmacogenomics of Pediatric Cardiac Arrest: Cisplatin Treatment Worsened by a Ryanodine Receptor 2 Gene Mutation 儿童心脏骤停的药物基因组学:顺铂治疗因Ryanodine受体2基因突变而恶化

IF 0.6 Q4 CARDIAC & CARDIOVASCULAR SYSTEMS

Cardiogenetics

Pub Date : 2022-02-07 DOI: 10.3390/cardiogenetics12010007

A. Maggio, S. Mastroianno, G. Di Stolfo, S. Castellana, P. Palumbo, M. Leone, A. Spirito, D. Potenza, S. Ladogana, M. Castori, M. Carella, M. Villella, M. Salvatori

In thelast few decades, the roles of cardio-oncology and cardiovascular geneticsgained more and more attention in research and daily clinical practice, shaping a new clinical approach and management of patients affected by cancer and cardiovascular disease. Genetic characterization of patients undergoing cancer treatment can support a better cardiovascular risk stratification beyond the typical risk factors, suchas contractile function and QT interval duration, uncovering a possible patient’s concealed predisposition to heart failure, life threatening arrhythmias and sudden death. Specifically, an integrated cardiogenetic approach in daily oncological clinical practice can ensure the best patient-centered healthcare model, suggesting, also the adequate cardiac monitoring timing and alternative cancer treatments, reducing drug-related complications. We report the case of a 14-month-old girl affected by neuroblastoma, treated by cisplatin, complicated by cardiac arrest. We described the genetic characterization of a Ryanodine receptor 2 (RYR2) gene mutation and subsequent pharmacogenomic approach to better shape the cancer treatment.

在过去的几十年里，心脏病学和心血管遗传学在研究和日常临床实践中的作用越来越受到关注，为癌症和心血管疾病患者的临床治疗和管理提供了新的途径。接受癌症治疗的患者的基因特征可以支持更好的心血管风险分层，超越典型的风险因素，如收缩功能和QT间期持续时间，揭示患者可能隐藏的心力衰竭、危及生命的心律失常和猝死倾向。具体而言，在日常肿瘤学临床实践中采用综合的心源性方法可以确保最佳的以患者为中心的医疗保健模式，同时也表明有足够的心脏监测时间和替代癌症治疗，减少与药物相关的并发症。我们报告了一例14个月大的女孩患神经母细胞瘤，接受顺铂治疗，并发心脏骤停。我们描述了Ryanodine受体2（RYR2）基因突变的遗传特征和随后的药物基因组方法，以更好地塑造癌症治疗。

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引用次数: 1

Genetics of Heritable Thoracic Aortic Disease 遗传性胸主动脉疾病的遗传学

IF 0.6 Q4 CARDIAC & CARDIOVASCULAR SYSTEMS

Cardiogenetics

Pub Date : 2022-02-04 DOI: 10.3390/cardiogenetics12010006

E. Papatheodorou, D. Degiannis, A. Anastasakis

Genetic testing plays an increasing diagnostic and prognostic role in the management of patients with heritable thoracic aortic disease (HTAD). The identification of a specific variant can establish or confirm the diagnosis of syndromic HTAD, dictate extensive evaluation of the arterial tree in HTAD with known distal vasculature involvement and justify closer follow-up and earlier surgical intervention in HTAD with high risk of dissection of minimal or normal aortic size. Evolving phenotype–genotype correlations lead us towards more precise and individualized management and treatment of patients with HTAD. In this review, we present the latest evidence regarding the role of genetics in patients with HTAD.

基因检测在遗传性胸主动脉疾病（HTAD）患者的治疗中起着越来越重要的诊断和预后作用。特定变体的识别可以确定或证实综合征性HTAD的诊断，指示对已知远端血管系统受累的HTAD的动脉树进行广泛评估，并证明对主动脉最小或正常大小夹层风险较高的HTAD进行更密切的随访和早期手术干预是合理的。表型-基因型相关性的演变使我们对HTAD患者进行更精确和个性化的管理和治疗。在这篇综述中，我们提出了遗传学在HTAD患者中作用的最新证据。

引用次数: 4

The Roles of Platelet-Activating Factor and Magnesium in Pathophysiology of Hypertension, Atherogenesis, Cardiovascular Disease, Stroke and Aging 血小板活化因子和镁在高血压、动脉粥样硬化、心血管疾病、中风和衰老病理生理中的作用

IF 0.6 Q4 CARDIAC & CARDIOVASCULAR SYSTEMS

Cardiogenetics

Pub Date : 2022-02-02 DOI: 10.3390/cardiogenetics12010005

N. Shah, Roshni Sethi, Sachin Shah, Komail Jafri, Jonah Duran, Yong Chang, Chirag V. Soni, Hanna Wollocko

Hypertension and atherosclerosis are debilitating diseases that affect millions each year. Long-term consequences include but are not limited to stroke, myocardial infarction, and kidney failure. Platelet-activating factor (PAF) is a proinflammatory mediator synthesized from a subclass of phosphatidylcholines that increases platelet activation, leukocyte adhesion, infiltration of macrophages, and intracellular lipid accumulation, thereby contributing to atherosclerosis. Magnesium, a key micronutrient and free radical scavenger, is a water-soluble mineral that regulates peripheral vasodilation and calcium, phosphate, and hydroxyapatite homeostasis. Magnesium’s antihypertensive ability stems from its role as a natural calcium antagonist and promoter of vasodilatory mediators, such as nitric oxide. Platelet-activating factor and magnesium share an inverse relationship, and elevated magnesium levels have been shown to have protective effects against plaque formation as well as antihypertensive and antiarrhythmic effects, all of which allow for healthier aging. The purpose of this literature review is to investigate the role of platelet-activating factor and magnesium in the pathophysiology of hypertension, atherosclerosis, cardiovascular disease, stroke, and aging. Since the pathophysiology of the platelet-activating factor biomolecule is underexplored, further research studies are warranted in order to navigate the putative signaling pathways involved in the cardioprotective effects of dietary magnesium as a natural anti-PAF agent.

高血压和动脉粥样硬化是使人衰弱的疾病，每年影响数百万人。长期后果包括但不限于中风、心肌梗死和肾衰竭。血小板活化因子（PAF）是一种由磷脂酰胆碱亚类合成的促炎介质，可增加血小板活化、白细胞粘附、巨噬细胞浸润和细胞内脂质积聚，从而导致动脉粥样硬化。镁是一种关键的微量营养素和自由基清除剂，是一种水溶性矿物质，可调节外周血管舒张和钙、磷酸盐和羟基磷灰石的稳态。镁的抗高血压能力源于其作为天然钙拮抗剂和血管舒张介质（如一氧化氮）的促进剂的作用。血小板活化因子和镁具有相反的关系，镁水平的升高已被证明对斑块形成具有保护作用，并具有降压和抗心律失常作用，所有这些都有助于更健康的衰老。本文献综述的目的是研究血小板活化因子和镁在高血压、动脉粥样硬化、心血管疾病、中风和衰老的病理生理学中的作用。由于血小板活化因子生物分子的病理生理学尚未得到充分的探索，因此有必要进行进一步的研究，以确定膳食镁作为天然抗PAF剂的心脏保护作用所涉及的假定信号通路。

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引用次数: 4

An Overview of Therapy Guidelines for Cardiac Arrest and the Potential Benefits of Hemoglobin-Based Oxygen Carriers 心脏骤停治疗指南综述及血红蛋白氧载体的潜在益处

IF 0.6 Q4 CARDIAC & CARDIOVASCULAR SYSTEMS

Cardiogenetics

Pub Date : 2022-01-20 DOI: 10.3390/cardiogenetics12010004

Brian M Wollocko, Bardia Papian-Gorji, W. Yen, Urooj Zahid, N. Shah, K. Steier, Hanna Wollocko

Currently, there is an unmet therapeutic need for the medical management of cardiac arrest, as is evident from the high mortality rate associated with this condition. These dire outcomes can be attributed to the severe nature and poor prognosis of this disorder. However, the current treatment modalities, while helping to augment survival, are limited and do not offer adequate improvements to outcomes. Treatment modalities are particularly lacking when considering the underlying pathophysiology of the metabolic phase of cardiac arrest. In this study, we explore the three phases of cardiac arrest and assess the factors related to positive clinical outcomes and survival for these events. Furthermore, we evaluate the present guidelines for resuscitation and recovery, the issues related to ischemia and tissue reperfusion, and the benefit of oxygen-delivery therapeutic methods including blood transfusion therapy and synthetic hemoglobins (HBOCs). The current therapy protocols are limited specifically by the lack of an efficient method of oxygen delivery to address the metabolic phase of cardiac arrest. In this article, we investigate the next generation of HBOCs and review their properties that make them attractive for their potential application in the treatment of cardiac arrest. These products may be a viable solution to address complications associated with ischemia, reperfusion injury, and organ damage.

目前，心脏骤停的医疗管理存在未满足的治疗需求，这从与这种情况相关的高死亡率中可以明显看出。这些可怕的结果可归因于这种疾病的严重性质和不良预后。然而，目前的治疗方式虽然有助于提高生存率，但有限，不能充分改善结果。在考虑心脏骤停代谢阶段的潜在病理生理学时，治疗模式尤其缺乏。在这项研究中，我们探讨了心脏骤停的三个阶段，并评估了与这些事件的积极临床结果和生存率相关的因素。此外，我们评估了目前的复苏和恢复指南，与缺血和组织再灌注相关的问题，以及氧气输送治疗方法的益处，包括输血治疗和合成血红蛋白（HBOC）。目前的治疗方案特别受到缺乏有效的氧气输送方法来解决心脏骤停的代谢阶段的限制。在这篇文章中，我们研究了下一代HBOC，并回顾了它们的特性，这些特性使它们在治疗心脏骤停方面的潜在应用具有吸引力。这些产品可能是解决与缺血、再灌注损伤和器官损伤相关的并发症的可行解决方案。

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引用次数: 0

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