Inherited Cardiac Disease

2020 ◽  
Keyword(s):  
Cardiovascular System ◽  
Cardiac Disease ◽  
Genetic Disorders ◽  
Molecular Genetic ◽  
Clinical Genetics ◽  
Cardiac Diseases ◽  
Inherited Disease ◽  
National Guidelines ◽  
Inherited Diseases ◽  
Inherited Cardiac Disease

Every year, thousands of people die or suffer chronic disability as the result of inherited diseases of the cardiovascular system. In many cases, diagnosis of inherited disease is delayed or missed owing to a lack of awareness, and an even greater number of relatives are exposed to unnecessary risk. This new edition of Inherited Cardiac Disease provides a comprehensive summary of the aetiology, presentation, and management of genetic disorders of the cardiovascular system. Fully updated to reflect the advances in molecular genetic technologies and the publication of national guidelines for the management of families with inherited cardiac diseases, it retains the first edition’s broad scope and applicability to all members of the multidisciplinary team, from specialists in cardiology and clinical genetics, to genetic counsellors, paediatricians, nurse specialists, and GPs who may come into contact with families presenting with inherited cardiac diseases. After chapters on the general principles of cardiovascular genetics, genetic testing and counselling, individual disorders are then examined in detail, each account featuring a clinical summary, diagnostic tests and special investigations, and treatments relevant to each inherited cardiac disease. Written in the succinct bullet-point style of the Oxford Specialist Handbooks, this new edition of Inherited Cardiac Disease delivers key information in an accessible manner, and is an invaluable guide to anyone who works with patients who are affected by inherited diseases of the cardiovascular system in their practice.

Yield and clinical significance of genetic screening in elite and amateur athletes

2020 ◽  
pp. 204748732093426 ◽  
Author(s):  
Giuseppe Limongelli ◽  
Marcella Nunziato ◽  
Valeria D'Argenio ◽  
Maria V Esposito ◽  
Emanuele Monda ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Clinical Evaluation ◽  
Cardiac Disease ◽  
Genetic Diagnosis ◽  
P Value ◽  
Inherited Disease ◽  
Clinical Markers ◽  
Amateur Athletes ◽  
Cardiovascular Evaluation ◽  
Inherited Cardiac Disease

Aims The purpose of this study was to assess the value of genetic testing in addition to a comprehensive clinical evaluation, as part of the diagnostic work-up of elite and/or amateur Italian athletes referred for suspicion of inherited cardiac disease, following a pre-participation screening programme. Methods Between January 2009–December 2018, of 5892 consecutive participants, 61 athletes were investigated: 30 elite and 31 amateur athletes. Elite and amateur athletes were selected, on the basis of clinical suspicion for inherited cardiac disease, from two experienced centres for a comprehensive cardiovascular evaluation. Furthermore, the elite and amateur athletes were investigated for variants at DNA level up to 138 genes suspected to bear predisposition for possible cardiac arrest or even sudden cardiac death. Results Of these 61 selected subjects, six (10%) had diagnosis made possible by a deeper clinical evaluation, while genetic testing allowed a definite diagnosis in eight (13%). The presence of >3 clinical markers (i.e. family history, electrocardiogram and/or echocardiographic abnormalities, exercise-induced ventricular arrhythmias) was associated with a higher probability of positive genetic diagnosis (75%), compared with the presence of two or one clinical markers (14.2%, 8.1%, respectively, p-value = 0.004). Conclusion A combined clinical and genetic evaluation, based on the subtle evidence of clinical markers for inherited disease, was able to identify an inherited cardiac disease in about one-quarter of the examined athletes.

Introduction

2020 ◽  
pp. 1-1
Author(s):  
Perry Elliott ◽  
Pier D. Lambiase ◽  
Dhavendra Kumar
Keyword(s):  
Cardiac Disease ◽  
Clinical Genetics ◽  
Basic Principles ◽  
Sequencing Technologies ◽  
Previous Edition ◽  
Inherited Cardiac Disease

This chapter sets out the rationale for the second edition of this Oxford Specialist Handbook in Inherited Cardiac Disease, with the aim to describe the basic principles of clinical genetics where relevant to cardiology practice, with the advances in sequencing technologies since the previous edition included to aid diagnosis.

Breakthrough Regenerative Cardiopoietic Stem Cells and Related Technologies in the Field of Cardiovascular Medicine – From Bench to Bedside

2012 ◽  
Vol 7 (1) ◽  
pp. 14
Author(s):  
Christian Homsy ◽  
Keyword(s):  
Stem Cells ◽  
Cell Therapy ◽  
Progenitor Cells ◽  
Cardiac Disease ◽  
Cardiac Tissue ◽  
Cardiac Repair ◽  
Cardiac Diseases ◽  
Cardiac Progenitor Cells ◽  
Biotechnology Company ◽  
Cardiovascular Medicine

The scale of cardiac diseases, and in particular heart failure and acute myocardial infarction, emphasises the need for radically new approaches, such as cell therapy, to address the underlying cause of the disease, the loss of functional myocardium. Stem cell-based therapies, whether through transplanted cells or directing innate repair, may provide regenerative approaches to cardiac diseases by halting, or even reversing, the events responsible for progression of organ failure. Cardio3 BioSciences, a leading Belgian biotechnology company focused on the discovery and development of regenerative and protective therapies for the treatment of cardiac disease, was founded in this context in 2004. The company is developing a highly innovative cell therapy approach based on a platform designed to reprogramme the patient’s own stem cells into cardiac progenitor cells. The underlying rationale behind this approach is that, in order to reconstruct cardiac tissue, stem cells need to be specific to cardiac tissue. The key is therefore to provide cardiac-specific progenitor cells to the failing heart to induce cardiac repair.

scholarly journals The Diverse Roles of TNNI3K in Cardiac Disease and Potential for Treatment

2021 ◽  
Vol 22 (12) ◽  
pp. 6422
Author(s):  
Caroline Pham ◽  
Noelia Muñoz-Martín ◽  
Elisabeth M. Lodder
Keyword(s):  
Cardiac Disease ◽  
Genetic Variants ◽  
Ischemia Reperfusion Injury ◽  
Ischemia Reperfusion ◽  
Cardiac Regeneration ◽  
Cardiac Diseases ◽  
Supraventricular Arrhythmias ◽  
Clinical Perspective ◽  
Physiological Processes

In the two decades since the discovery of TNNI3K it has been implicated in multiple cardiac phenotypes and physiological processes. TNNI3K is an understudied kinase, which is mainly expressed in the heart. Human genetic variants in TNNI3K are associated with supraventricular arrhythmias, conduction disease, and cardiomyopathy. Furthermore, studies in mice implicate the gene in cardiac hypertrophy, cardiac regeneration, and recovery after ischemia/reperfusion injury. Several new papers on TNNI3K have been published since the last overview, broadening the clinical perspective of TNNI3K variants and our understanding of the underlying molecular biology. We here provide an overview of the role of TNNI3K in cardiomyopathy and arrhythmia covering both a clinical perspective and basic science advancements. In addition, we review the potential of TNNI3K as a target for clinical treatments in different cardiac diseases.

scholarly journals ABC of clinical genetics. Treatment of genetic disorders.

BMJ ◽  
1989 ◽  
Vol 298 (6686) ◽  
pp. 1499-1501
Author(s):  
H. M. Kingston
Keyword(s):  
Genetic Disorders ◽  
Clinical Genetics
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