CJC Pediatric and Congenital Heart Disease最新文献_第7页

Clinically Relevant Genetic Considerations for Patients With Tetralogy of Fallot 法洛四联症患者的临床相关遗传因素

CJC Pediatric and Congenital Heart Disease Pub Date : 2023-12-01 DOI: 10.1016/j.cjcpc.2023.10.002

Anne S. Bassett MD, FRCPC , Miriam S. Reuter MD , Sarah Malecki MD , Candice Silversides MD, FRCPC , Erwin Oechslin MD, FRCPC

{"title":"Clinically Relevant Genetic Considerations for Patients With Tetralogy of Fallot","authors":"Anne S. Bassett MD, FRCPC , Miriam S. Reuter MD , Sarah Malecki MD , Candice Silversides MD, FRCPC , Erwin Oechslin MD, FRCPC","doi":"10.1016/j.cjcpc.2023.10.002","DOIUrl":"10.1016/j.cjcpc.2023.10.002","url":null,"abstract":"<div><p>Genetic changes affect embryogenesis, cardiac and extracardiac phenotype, development, later onset conditions, and both short- and long-term outcomes and comorbidities in the increasing population of individuals with tetralogy of Fallot (TOF). In this review, we focus on current knowledge about clinically relevant genetics for patients with TOF across the lifespan. The latest findings for TOF genetics that are pertinent to day-to-day practice and lifelong management are highlighted: morbidity/mortality, cardiac/extracardiac features, including neurodevelopmental expression, and recent changes to prenatal screening and diagnostics. Genome-wide microarray is the first-line clinical genetic test for TOF across the lifespan, detecting relevant structural changes including the most common for TOF, the 22q11.2 microdeletion. Accumulating evidence illustrates opportunities for advances in understanding and care that may arise from genetic diagnosis at any age. We also glimpse into the near future when the multigenic nature of TOF will be more fully revealed, further enhancing possibilities for preventive care. Precision medicine is nigh.</p></div>","PeriodicalId":100249,"journal":{"name":"CJC Pediatric and Congenital Heart Disease","volume":"2 6","pages":"Pages 426-439"},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772812923001537/pdfft?md5=fc98fd71468bcfd4eb632445f7ac96c2&pid=1-s2.0-S2772812923001537-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"136117405","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: 1

Access to Specialized Care Across the Lifespan in Tetralogy of Fallot 法洛四联症患者一生中获得专业护理的机会

CJC Pediatric and Congenital Heart Disease Pub Date : 2023-12-01 DOI: 10.1016/j.cjcpc.2023.09.004

Andrew S. Mackie MD, SM , Katia Bravo-Jaimes MD , Michelle Keir MD, MSc , Christina Sillman NP , Adrienne H. Kovacs PhD

{"title":"Access to Specialized Care Across the Lifespan in Tetralogy of Fallot","authors":"Andrew S. Mackie MD, SM , Katia Bravo-Jaimes MD , Michelle Keir MD, MSc , Christina Sillman NP , Adrienne H. Kovacs PhD","doi":"10.1016/j.cjcpc.2023.09.004","DOIUrl":"10.1016/j.cjcpc.2023.09.004","url":null,"abstract":"<div><p>Individuals living with tetralogy of Fallot require lifelong specialized congenital heart disease care to monitor for and manage potential late complications. However, access to cardiology care remains a challenge for many patients, as does access to mental health services, dental care, obstetrical care, and other specialties required by this population. Inequities in health care access were highlighted by the COVID-19 pandemic and continue to exist. Paradoxically, many social factors influence an individual’s need for care, yet inadvertently restrict access to it. These include sex and gender, being a member of a racial or ethnic historically excluded group, lower educational attainment, lower socioeconomic status, living remotely from tertiary care centres, transportation difficulties, inadequate health insurance, occupational instability, and prior experiences with discrimination in the health care setting. These factors may coexist and have compounding effects. In addition, many patients believe that they are cured and unaware of the need for specialized follow-up. For these reasons, lapses in care are common, particularly around the time of transfer from paediatric to adult care. The lack of trained health care professionals for adults with congenital heart disease presents an additional barrier, even in higher income countries. This review summarizes challenges regarding access to multiple domains of specialized care for individuals with tetralogy of Fallot, with a focus on the impact of social determinants of health. Specific recommendations to improve access to care within Canadian and American systems are offered.</p></div>","PeriodicalId":100249,"journal":{"name":"CJC Pediatric and Congenital Heart Disease","volume":"2 6","pages":"Pages 267-282"},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S277281292300129X/pdfft?md5=adfaa45dcf4ba81f8c80221c06cf5b25&pid=1-s2.0-S277281292300129X-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135347496","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: 1

Use of Cardiovascular Magnetic Resonance for Risk Stratification in Repaired Tetralogy of Fallot 应用心血管磁共振对修复后法洛四联症的危险分层

CJC Pediatric and Congenital Heart Disease Pub Date : 2023-12-01 DOI: 10.1016/j.cjcpc.2023.08.008

Sarah Ghonim BSc, MBBS, PhD , Sonya V. Babu-Narayan BSc, MBBS, PhD, FRCP

{"title":"Use of Cardiovascular Magnetic Resonance for Risk Stratification in Repaired Tetralogy of Fallot","authors":"Sarah Ghonim BSc, MBBS, PhD , Sonya V. Babu-Narayan BSc, MBBS, PhD, FRCP","doi":"10.1016/j.cjcpc.2023.08.008","DOIUrl":"10.1016/j.cjcpc.2023.08.008","url":null,"abstract":"<div><p>The risk of premature death in adult patients with repaired tetralogy of Fallot is real and not inconsiderable. From the third decade of life, the incidence of malignant ventricular arrhythmia (VA) is known to exponentially rise. Progressive adverse mechanoelectrical modelling because of years of volume and/or pressure overload from residual pulmonary valve dysfunction and ventricular scar creates the perfect catalyst for VA. Although potentially lifesaving, implantable cardiac defibrillators are associated with substantial psychological and physical morbidity. Better selection of patients most at risk of VA, so that implantable cardiac defibrillators are not inflicted on patients who will never need them, is therefore crucial and has inspired research on this topic for several decades. Cardiovascular magnetic resonance (CMR) enables noninvasive, radiation-free clinical assessment of anatomy and function, making it ideal for the lifelong surveillance of patients with congenital heart disease. Gold standard measurements of ventricular volumes and systolic function can be derived from CMR. Tissue characterization using CMR can identify a VA substrate and provides insight into myocardial disease. We detail risk factors for VA identified using currently available CMR techniques. We also discuss emerging and advanced CMR techniques that have not all yet translated into routine clinical practice. We review how CMR-defined predictors of VA in repaired tetralogy of Fallot can be incorporated into risk scores with other clinical factors to improve the accuracy of risk prediction and to allow for pragmatic clinical application. Finally, we discuss what the future may hold.</p></div>","PeriodicalId":100249,"journal":{"name":"CJC Pediatric and Congenital Heart Disease","volume":"2 6","pages":"Pages 393-403"},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772812923001380/pdfft?md5=4332e55d301a403373ee6f21936b2bf7&pid=1-s2.0-S2772812923001380-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"134936402","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: 1

Pregnancy Considerations in Tetralogy of Fallot 法洛四联症的妊娠考虑

CJC Pediatric and Congenital Heart Disease Pub Date : 2023-12-01 DOI: 10.1016/j.cjcpc.2023.09.008

Maria L. Garagiola MD, Sara A. Thorne MBBS, MD

{"title":"Pregnancy Considerations in Tetralogy of Fallot","authors":"Maria L. Garagiola MD, Sara A. Thorne MBBS, MD","doi":"10.1016/j.cjcpc.2023.09.008","DOIUrl":"10.1016/j.cjcpc.2023.09.008","url":null,"abstract":"<div><p>The majority of women with repaired tetralogy of Fallot are able to tolerate pregnancy with a low risk of cardiovascular events. However, proactive contraceptive advice, prepregnancy counselling, and care by a pregnancy heart team with expertise in congenital heart disease are key to ensuring a good outcome for mother and baby. Maternal and fetal risks are increased in the presence of severe valvular stenosis, poorly tolerated arrhythmia, significant ventricular dysfunction, and cyanosis. It is unusual to see cyanotic adults with tetralogy of Fallot, whether unoperated or shunt palliated; pregnancy risks are greatly reduced by completing their repair before pregnancy is undertaken. The multidisciplinary pregnancy heart team should make a risk-stratified pregnancy care plan using a combination of published scoring systems and an individualized assessment of the patient’s comorbidities. Low-risk patients may have the majority of their care and give birth in local units, whereas those at high risk should be managed and give birth in a tertiary centre with high-level expertise and intensive care facilities. Age-appropriate conversations about future childbearing and safe and reliable contraception should be part of routine follow-up from teenage years, so that women with tetralogy of Fallot can control their own fertility and make informed decisions about having children.</p></div>","PeriodicalId":100249,"journal":{"name":"CJC Pediatric and Congenital Heart Disease","volume":"2 6","pages":"Pages 301-313"},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772812923001343/pdfft?md5=a08c57665fea461be967c99c88d29475&pid=1-s2.0-S2772812923001343-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135889262","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: 1

Risk Stratification for Sudden Cardiac Death in Repaired Tetralogy of Fallot 修复后法洛四联症心源性猝死的危险分层

CJC Pediatric and Congenital Heart Disease Pub Date : 2023-12-01 DOI: 10.1016/j.cjcpc.2023.07.002

Jayant Kakarla MBBS, Nathan C. Denham BM, PhD, Ayako Ishikita MD, PhD, Erwin Oechslin MD, Rafael Alonso-Gonzalez MD, Krishnakumar Nair MD

{"title":"Risk Stratification for Sudden Cardiac Death in Repaired Tetralogy of Fallot","authors":"Jayant Kakarla MBBS, Nathan C. Denham BM, PhD, Ayako Ishikita MD, PhD, Erwin Oechslin MD, Rafael Alonso-Gonzalez MD, Krishnakumar Nair MD","doi":"10.1016/j.cjcpc.2023.07.002","DOIUrl":"10.1016/j.cjcpc.2023.07.002","url":null,"abstract":"<div><p>There has been significant progress in the prevention of sudden cardiac death in repaired tetralogy of Fallot. Contemporary cohorts report greater survival attributable to improved surgical techniques, heart failure management, and proactive strategies for risk stratification and management of ventricular arrhythmias including defibrillator implantation and ablation technology. Over the last 25 years, our understanding of predictive risk factors has also improved from invasive and more limited measures to individualized risk prediction scores based on extensive demographic, imaging, electrophysiological, and functional data. Although each of these contemporary scoring systems improves prediction, there are important differences between the study cohorts, included risk factors, and imaging modalities that can significantly affect interpretation and implementation for the individual patient. In addition, accurate phenotyping of disease complexity and anatomic repair substantially modulates this risk and the mechanism of sudden death. Routine implementation of risk stratification within repaired tetralogy of Fallot management is important and directly informs primary prevention defibrillator implantation as well as consideration for proactive invasive strategies including ventricular tachycardia ablation and pulmonary valve replacement. Assessment and risk stratification by a multidisciplinary team of experts in adult congenital heart disease are crucial and critical. Although we have increased understanding, reconciliation of these complex factors for the individual patient remains challenging and often requires careful consideration and discussion with multidisciplinary teams, patients, and their families.</p></div>","PeriodicalId":100249,"journal":{"name":"CJC Pediatric and Congenital Heart Disease","volume":"2 6","pages":"Pages 414-425"},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772812923001045/pdfft?md5=7295296c63fcc3bd9522873454814a25&pid=1-s2.0-S2772812923001045-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87763308","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: 1

The Lifelong Impact of Artificial Intelligence and Clinical Prediction Models on Patients With Tetralogy of Fallot 人工智能和临床预测模型对法洛四联症患者的终身影响

CJC Pediatric and Congenital Heart Disease Pub Date : 2023-12-01 DOI: 10.1016/j.cjcpc.2023.08.005

Xander Jacquemyn BSc , Shelby Kutty MD, PhD, MHCM , Cedric Manlhiot PhD

{"title":"The Lifelong Impact of Artificial Intelligence and Clinical Prediction Models on Patients With Tetralogy of Fallot","authors":"Xander Jacquemyn BSc , Shelby Kutty MD, PhD, MHCM , Cedric Manlhiot PhD","doi":"10.1016/j.cjcpc.2023.08.005","DOIUrl":"10.1016/j.cjcpc.2023.08.005","url":null,"abstract":"<div><p>Medical advancements in the diagnosis, surgical techniques, perioperative care, and continued care throughout childhood have transformed the outlook for individuals with tetralogy of Fallot (TOF), improving survival and shifting the perspective towards lifelong care. However, with a growing population of survivors, longstanding challenges have been accentuated, and new challenges have surfaced, necessitating a re-evaluation of TOF care. Availability of prenatal diagnostics, insufficient information from traditional imaging techniques, previously unforeseen medical complications, and debates surrounding optimal timing and indications for reintervention are among the emerging issues. To address these challenges, the integration of artificial intelligence and machine learning holds great promise as they have the potential to revolutionize patient management and positively impact lifelong outcomes for individuals with TOF. Innovative applications of artificial intelligence and machine learning have spanned across multiple domains of TOF care, including screening and diagnosis, automated image processing and interpretation, clinical risk stratification, and planning and performing cardiac interventions. By embracing these advancements and incorporating them into routine clinical practice, personalized medicine could be delivered, leading to the best possible outcomes for patients. In this review, we provide an overview of these evolving applications and emphasize the challenges, limitations, and future potential for integrating them into clinical care.</p></div>","PeriodicalId":100249,"journal":{"name":"CJC Pediatric and Congenital Heart Disease","volume":"2 6","pages":"Pages 440-452"},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772812923001240/pdfft?md5=9f0f551abea9dc5cc6ccca76287acde0&pid=1-s2.0-S2772812923001240-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"79339337","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

Navigating Arrhythmias in Tetralogy of Fallot Throughout the Lifespan: A Case-based Review 法洛四联症在整个生命周期中的导航性心律失常:一项基于病例的回顾

CJC Pediatric and Congenital Heart Disease Pub Date : 2023-12-01 DOI: 10.1016/j.cjcpc.2023.09.006

Christophe Vô MD , Nabil Dib MD , Stefano Bartoletti MD , Cecilia M. Gonzalez MD , Blandine Mondésert MD , Marie-Hélène Gagnon MD , Anne Fournier MD , Paul Khairy MD, PhD

{"title":"Navigating Arrhythmias in Tetralogy of Fallot Throughout the Lifespan: A Case-based Review","authors":"Christophe Vô MD , Nabil Dib MD , Stefano Bartoletti MD , Cecilia M. Gonzalez MD , Blandine Mondésert MD , Marie-Hélène Gagnon MD , Anne Fournier MD , Paul Khairy MD, PhD","doi":"10.1016/j.cjcpc.2023.09.006","DOIUrl":"10.1016/j.cjcpc.2023.09.006","url":null,"abstract":"<div><p>Arrhythmias are a common complication associated with tetralogy of Fallot (ToF), one of the most prevalent forms of congenital heart disease. As illustrated by this case-based review, various forms of arrhythmias can be encountered across the lifespan of patients with ToF, from infancy to older adulthood. These include atrioventricular block, junctional ectopic tachycardia, and atrial and ventricular arrhythmias. Arrhythmias have important implications on the health and quality of life of patients with ToF and require treatment by caregivers with dedicated expertise. The choice of pharmacologic and/or interventional therapies to alleviate symptoms, avoid complications, and mitigate risks depends in part on the type, severity, and frequency of the arrhythmia, as well as on the particularities of individual clinical scenarios. Preventing, monitoring for, and managing arrhythmias are an integral component of the care of patients with ToF throughout their lifespan that is critical to optimizing health outcomes.</p></div>","PeriodicalId":100249,"journal":{"name":"CJC Pediatric and Congenital Heart Disease","volume":"2 6","pages":"Pages 404-413"},"PeriodicalIF":0.0,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.sciencedirect.com/science/article/pii/S2772812923001318/pdfft?md5=a0c2e2aca19141f7ef43db0bf14b2629&pid=1-s2.0-S2772812923001318-main.pdf","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135349114","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: 1

Optimal Surgical Management of Tetralogy of Fallot 法洛四联症的最佳外科治疗

CJC Pediatric and Congenital Heart Disease Pub Date : 2023-12-01 DOI: 10.1016/j.cjcpc.2023.09.003

Rachel D. Vanderlaan MD, PhD, David J. Barron MD

引用次数: 1

Canada’s First Successful Paediatric Total Artificial Heart Implant 加拿大首次成功进行小儿全人工心脏植入术

CJC Pediatric and Congenital Heart Disease Pub Date : 2023-12-01 DOI: 10.1016/j.cjcpc.2023.06.001

Aine Lynch MBBChBAO, MSc , Aamir Jeewa MBBChBAO , Andrea Maurich RN , Mjaye Mazwi MBChB, MD , Emilie Jean-St-Michel MD, MSc , Alejandro Floh MD, MSc , Oshri Zaulan MD , Shi-Joon Yoo MD, PhD , Bhavik Langanecha MD , Osami Honjo MD, PhD

引用次数: 0

Challenges and Opportunities for Patients With Tetralogy of Fallot Across the Lifespan 法洛四联症患者一生中的挑战与机遇

CJC Pediatric and Congenital Heart Disease Pub Date : 2023-12-01 DOI: 10.1016/j.cjcpc.2023.11.001

Frédéric Dallaire MD, PhD , Jasmine Grewal MD , Wadi Mawad MD , Rachel M. Wald MD

引用次数: 0