This brilliant and highly practical book provides a case-based introduction and primer to the practice of ICD therapy. It contains a huge number of images and includes real-world patient histories. The reader is able to gain extensive practical knowledge of the practice of ICD therapy with the use of these case reports. These concentrate on the skills necessary to increase specialist knowledge of defibrillator therapy practice.

Based on the 20th edition of Harrison's Principles of Internal Medicine, this book is dedicated to the field of cardiology in all its endless scope. This book caters to medical professionals at all levels. Not only can it be used by aspiring doctors to prepare for medical entrance examinations, but also by seasoned physicians to update knowledge long after it has been acquired. It is sign-posted with references and contains over 2,500 questions. A comprehensive and authentic question bank on cardiology. Designed for postgraduate and superspecialty medical entrance examinations. Based on 20th edition of Harrison's Principles of Internal Medicine. 2,500 plus multiple choice questions. Caters to medical professionals at all levels.

In the past five years, interventional cardiology has entered a new era of evaluating percutaneous transcatheter technologies to treat coronary artery disease and prevent restenosis. Cardiologists attempting to follow this field may be confused by the growth and expansion of new devices, the technical details relevant to each device and enthusiastic claims of success. This monograph is a comprehensive assessment of restenosis from the perspective of these new technologies including stenting, atherectomy, rotational abrasion and lasers. The international breadth of experience is reflected in the summary from both sides of the Atlantic, at times with conflicting observations and results which can be in itself valuable, given the diverse experience to date. In addition to the summaries of the early and late results of these new devices, issues in the methodology of restenosis research are addressed, including limitations of quantitative coronary arteriography in evaluating the new devices and advances in alternatives to arteriography such as intrevascular imaging. This text aims to weave many of these concepts together, establishing the ground work for further development of mechanical approaches to limit restenosis. It is intended for use by interventional cardiologists interested in practical and research aspects of restenosis.

Heart disease is the leading cause of death in developed countries. Recent experimental advances featuring cellular, molecular, and genetic tools and technologies offer the potential for new therapeutic strategies directed toward remediation of inherited and acquired heart diseases. Whether these recent basic science advances will ultimately translate to clinical efficacy for patients with heart disease is unknown and is important to ascertain. Cardiac Cell and Gene Transfer: Principles, Protocols, and Applications is designed to provide the reader with up-to-date coverage of a myriad of specific methodo- gies and protocols for gene and cell transfer to the myocardium. Each chapter features a "Notes" section that provides useful "how to" problem-solving insights that are often left unstated in standard published protocols. Cardiac Cell and Gene Transfer: Principles, Protocols, and Appli- tions addresses principles and applications of cell and gene transfer to the heart, including protocols for vector production and purification. Detailed step-by-step methods and applications for first/second-generation adenoviral vectors, adeno-associated vectors, gutted adenoviral vectors, and lentiviral vectors are included. Additionally, detailed methods for cardiac cell grafting and transplantation are provided, and these chapters highlight the prospects of cell-based therapies for cardiac repair. The book also covers specific in vivo techniques for cardiac gene transfer, and specifies subsequent cellular and organ-level physiological assessment techniques and protocols. Accordingly, this book is designed for basic science and clinical researchers in the academic, pharmaceutical, and biotechnology sectors of the cardiovascular community.

All physicians practicing medicine encounter patients suffering from cardiovascular disease. This book has been outlined in such a way that vascular surgeons, general internists, neurologists and cardiologists should be able to use it. The book covers the complete scope of cardiac diseases in addition to chapters on hypertension and atherosclerosis. In many patients there is a family history of cerebrovascular accidents, myocardial infarction or peripheral arterial disease. Also in patients reporting collaps, palpitations and arrhythmias the family is crucial and can provide clues to a genetic cause of the disease. This book is published to guide physicians in the process of determining whether a genetic component is likely to be present. Furthermore, information is provided what the possibilities and limitations of DNA diagnostic techniques are. Finally, the importance of newly identified categories of potential patients, i. e. gene carriers without symptoms or any inducible sign of disease, is highlighted. For some patients a genetic diagnosis is essential to determine appropriate therapy and for counseling? In some other diseases DNA diagnostic tools are available but the relevant for the patients may be less clear. In other families the search for a disease causing gene is ongoing and the possibilities to find genes and to unravel the pathophysiology of the disease is limited by the lack of patients. To give insight into the current state of genetic diagnostics, the authors have classified the cardiovascular diseases.

Over the past decades, the pathogenesis, diagnosis, treatment and prevention of cardiovascular diseases have been benefited significantly from intensive research activities. In order to provide a comprehensive "manual" in a field that has become as broad and deep as cardiovascular medicine, this volume of "Methods in Molecular Medicine" covers a wide spectrum of in vivo and in vitro techniques encompassing biochemical, pharmacological and molecular biology disciplines which are currently used to assess vascular disease progression. Each chapter included in this volume focuses on a specific vascular biology technique and describes various applications as well as caveats of these techniques. The protocols included here are described in detail, allowing beginners with little experience in the field of vascular biology to embark on new research projects.

One: Coronary angioplasty.- 1. Medical interventions for regression of coronary atherosclerosis.- 2. Digital coronary angiography.- 3. Balloon angioplasty for stable and unstable angina.- 4. Radiofrequency coronary angioplasty.- 5. Laser angioplasty - technical aspects.- 6. Excimer laser coronary angioplasty: preliminary clinical experience.- 7. Result of a pilot study on percutaneous coronary excimer laser ablation in patients with coronary artery disease.- 8. Excimer-laser coronary angioplasty: clinical experience with high-grade stenosis and recanalization of chronic occlusions.- 9. High speed arteriosclerotic lesion ablation for treatment of coronary artery disease.- 10. A new balloon-expandable coronary tantalum stent in atherosclerotic minipigs: angiographic and histologic findings 4 weeks after implantation.- 11. Autoperfusion catheter for preservation of myocardium during coronary artery obstruction after failed PTCA.- Two: Peripheral vessel angioplasty.- 12. Balloon angioplasty.- 13. Symptomatic occlusion of the subclavian artery: treatment by balloon angioplasty.- 14. Rotational atherectomy: current use in vascular disease with specific focus on the Simpson device.- 15. Increased growth rates of percutaneously and surgically extracted plaque cells from human restenosing tissue in vitro.- 16. Effect of propranolol on growth of cultured human smooth muscle cells derived from non-atherosclerotic and atherosclerotic vascular tissue.- 17. Excimer laser angioplasty: efficiency and damage.- 18. Current problems of excimer laser angioplasty.- 19. Laser angioplasty.- 20. Preliminary experience with the implantation of Strecker-stents in peripheral arteries.- 21. Angioplasty of peripheral vessels: surgical aspects.- Three: Balloon valvuloplasty.- 22. Balloon pulmonary valvoplasty.- 23. Mitral valvuloplasty.- 24. Balloon aortic valvuloplasty.- 25. Surgical aspects of balloon valvuloplasty (BVP).- Four: Catheter ablation of tachycardias.- 26. DC-ablation of the atrioventricular conduction system in patients with supraventricular tachyarrhythmias.- 27. Localization and catheter ablation of accessory atrioventricular pathways.- 28. Radiofrequency ablation of supraventricular and atrioventricular tachyarrhythmias.- 29. The role of the surgeon in the management of supraventricular arrhythmias.- 30. Catheter mapping of ventricular tachycardia.- 31. Catheter ablation of ventricular tachycardia by direct current.- 32. Catheter ablation of ventricular tachycardia using radiofrequency current.- 33. Catheter ablation for arrhythmias using lasers.- 34. Chemical ablation in the pig heart by subendocardial injection of ethanol via catheter.- 35. Long-term results of antitachycardia electrotherapy in ventricular tachyarrhythmia.- 36. Implantable cardioverter-defibrillators: patient selection, devices and results.- 37. Surgical ablation of ventricular tachycardias.

This book presents a thorough review of coronary angioscopy, ranging from instructions on its use to the latest advances. Starting with the structure and fundamental principles of angioscopy, it shows readers how to apply the image to comprehensive care of coronary-artery patients. Plentiful color photos and illustrations will enable readers to investigate and classify plaques and thrombi and to evaluate coronary stent- and drug-based therapies. The authors are leading researchers on angioscopy. This book offers the perfect guide not only for new clinicians but also for cardiologists who have already adopted this technique for medical examination and treatment. Angioscopy is a unique medical technique for visualizing the interior of blood vessels and helps physicians not only to diagnose the pathology but also to measure the effectiveness of Percutaneous coronary intervention (PCI) or antiarteriosclerotic drugs. Furthermore, the recently developed molecular angioscopy approach allows us to observe Low-density lipoprotein (LDL) oxide, collagen, and macrophages, and is rapidly growing in importance.

A panel of clinicians, researchers, and leaders in the field review and discuss the latest findings on the pathophysiology, diagnosis, and management of cardiovascular disease in the older patient. The authors explain the physiological changes associated with the normal aging process that may lead to the development of disease, to adverse consequences once disease develops, and which alter the risk-benefit equation for medical and other interventions designed to diagnose, assess, and treat cardiovascular disease. The focus is on particularly common syndromes in the elderly, including cardiac failure with normal ejection fraction, isolated systolic hypertension, and atrial fibrillation. Wherever possible, the authors take an evidence-based approach to recommendations and rely heavily on prospective clinical trials.

The cellular mechanisms of valvular heart disease have not been elucidated until the last decade. To date, there is no medical therapy that is FDA or CE mark approved for the treatment and/or slowing the progression of this disease. This textbook will provide the cellular basis for medical therapy. Over the past decade, research laboratories are more and more evolving into valvular biology programs from the traditional vascular biology. The science between the two disciplines, although has several similarities has unique cellular targets secondary to the embryologic derivation of the heart valve and the hemodynamics involved in the understanding of this disorders. This textbook will be a natural progression from the recently published text Cardiac Valvular Medicine, Springer 2012. This new textbook will provide the cellular details and the more basic molecular biology approaches towards understanding the disease, providing novel cellular targets and finally developing future clinical trials in the medical treatment of valvular heart disease in the future.

This book reports the text of the lectures of the 6th International Conference on Sodium Calcium Exchange held in Lacco Ameno in the Island of Ischia in the Gulf of Naples, Italy, from October 1 to October 5, 2011. The present book uncovers the most striking new findings on NCX that emerged since the previous Conference on Sodium Calcium Exchange, such as the structural dissection of the molecular determinants of Ca2+ sensitivity of the exchanger, the epigenetic regulation of ncx1 gene, the molecular identification of the mitochondrial Sodium Calcium Exchanger, and the discovery of NCX in unexpected anatomical locations such as the female reproductive tract. The book is organized into 11 parts covering NCX structural aspects, genetic and epigenetic regulation, regulatory mechanisms, subcellular localization in mitochondria, involvement in neurodegenerative diseases and in immune regulation, and the role of the cardiovascular and endocrine systems, as well as diabetes in physiology and pathophysiology. Selected chapters of the book are also devoted to the interaction of NCKX and other ion channels and transporters with NCX, like ASICs, TRPM, and NHE.

This comprehensve review of scientific research supporting evidence of the relationship between cardiac disease and psychological condition offers practical suggestions for developing a clinical practice, and proposes directions for future research in the new field of "cardiac psychology." Every chapter is written by world-renowned researchers in the field. A theoretical and practical guide, it will interest physicians, clinical and health psychologists, and all professionals who seek to understand the mind-health link.

This book gathers together contributions from internationally renowned authors in the field of cardiovascular systems and provides crucial insight into the importance of sex- and gender-concepts during the analysis of patient data. This innovative title is the first to offer the elements necessary to consider sex-related properties in both clinical and basic studies regarding the heart and circulation on multiscale levels (i.e. molecular, cellular, electrophysiologically, neuroendocrine, immunoregulatory, organ, allometric, and modeling). Observed differences at (ultra)cellular and organ level are quantified, with focus on clinical relevance and implications for diagnosis and patient management. Since the cardiovascular system is of vital importance for all tissues, Sex-Specific Analysis of Cardiovascular Function is an essential source of information for clinicians, biologists, and biomedical investigators. The wide spectrum of differences described in this book will also act as an eye-opener and serve as a handbook for students, teachers, scientists and practitioners.

Ithaslongbeenknownthatamphibiaandotherlowerordervertebrates havethecapacitytoregeneratelimbsaswellasdamagedheartsorbrains. Overthepastdecade,therehasbeenamajorchangeinthewaythatthe potentialforregenerationinmammalsisviewed.Earlier,incontrastto the acceptance of regeneration in amphibia, it was generally believed that there was very limited if any capacity for regeneration in many mammalianorgansystemssuchastheheartandbrain.Thediscoveryof tissue-resident adult stem cells and the description of the properties of embryonic stem cells have altered this view. This change in paradigm VI Preface has led to the hope that these discoveries can be harnessed in medical practicetocurechronicdisablingdiseases. The use of tissue-resident adult stem cells depends on the ability to either mobilize them or to convert them from one lineage to another. These problems do not arise with embryonic stem cells. Instead, their useisfraughtwithethicalandpoliticalissuesaswellasthequestionof howtodirecttheirdifferentiationtowardthedesiredcelltype.Whichever approachistaken,issuesofsafetyhavetobeparamount.Inparticular,the roleofstemcellsintumorigenesisiscriticalinassessingtheirpotential clinicalutility. The Ernst Schering Research Foundation and the Riken Center on DevelopmentalBiologyjointlyorganizedaworkshopon"ThePromises andChallengesofRegenerativeMedicine,"whichtookplaceinKobe, Japan on 20-22 October 2004. The purpose of the workshop was to discuss the present state of knowledge and future directions in this important ?eld. Leading basic scientists and clinicians reviewed and discussedseveraltimelytopicswithinthreemainthemes:(1)evolution, development,andregeneration,includingstemcellsinPlanariaandstem cell niches; (2)embryonic and adult stem cells, including adiscussion of the regulatory system in Japan for human embryonic stem cells; and (3) regeneration in speci?c indications including a discussion of the role of stem cells in organs such as the skin, brain, liver, pancreas, cornea,andthecardiovascularsystem.Inaddition,theroleofstemcells in glioblastoma was presented along with the implications for other tumors.

Tetralogy of Fallot is the most common form of cyanotic congenital heart disease, and one of the first to be successfully repaired by congenital heart surgeons. Although "fixed", patients born with tetralogy of Fallot cannot be considered "cured". Improving survival and quality of life for this ever-increasing adult population will continue to challenge the current and future generations of cardiologists. Adult patients with tetralogy of Fallot should be seen by a cardiologist specializing in the care of adults with congenital heart disease, to be monitored for late complications. They need to be checked regularly for any subsequent complications or disturbances of heart rhythm. This monograph is intended as both an introduction to the subject and a timely, comprehensive review, and will be welcomed by adult cardiologists, pediatric cardiologists, internists, surgeons, obstetricians, and intensivists who wish to learn about the most recent discoveries and advances concerning tetralogy of Fallot in adults. It will also be of interest to advanced undergraduates wanting to learn more about the subject.

Nitric oxide is involved in the regulation of the circulation in physiologic and pathophysiological conditions. Evidence indicates that alterations in endothelial production of nitric oxide may be involved in the pathogenesis of central hypertension, pulmonary hypertension, renal disease and coronary vasopastic disorders. In addition to being involved in regulation of the circulation in physiologic and pathophysiologic conditions, the inducible form of the enzyme may play a role in the refractory hypertension.

Cardiac catheterization has long been a central diagnostic modality in the evaluation of children, adolescents, and adults with congenital heart disease, and in children with acquired heart disease. Over the past two decades, transcatheter interventions have become equally important in the treatment of pediatric and congenital heart disease. Some transcatheter therapies have become established as the standard of care for congenital cardiovascular anomalies previously managed surgically, others serve to supplement surgery in the integrated management of complex lesions, and still others are in their infancy, as pediatric interventional cardiology continues to advance in step with the broader field of pediatric cardiovascular medicine. Since the previous edition of this book, new technologies and techniques have been introduced to the field of pediatric interventional cardiology, much has been learned about established transcatheter therapies, and there has been a substantial increase in the volume of published data on outcomes of transcatheter procedures in congenital and pediatric heart disease. With increasing experience, the role of interventional catheterization has become solidified as an integral component of the comprehensive management of patients with essentially all forms of congenital heart disease. Cardiac catheterization has also become established as a distinct subspecialty within the discipline of pediatric cardiology, and at many centers has become the purview of cardiologists who have received specialized training in interventional catheterization and whose practice is focused on catheterization. This book is targeted to trainees and established interventional cardiologists alike, and is intended as a comprehensive reference for the clinical practice of diagnostic and interventional cardiology in pediatric and congenital heart disease. In the organization of this book, a combination of procedure-based and problem-based approaches has been employed. The structure of the book has been updated to make it more reader friendly, chapters have been added to address new techniques and problems in the field, and greater emphasis has been placed on evaluation of outcomes of transcatheter interventions in congenital heart disease. Section 1 covers the fundamentals of cardiac catheterization, with chapters devoted to pre-procedure patient evaluation, sedation and anesthesia, vascular access and related issues, catheterization equipment ands its use, hemodynamic evaluation, angiography, radiation and radiation safety, and echocardiography in the catheterization lab. Sections 2 through 4 include procedure-based chapters that are organized according to the technical type of intervention. Section 2 is devoted to transcatheter interventions for obstructive lesions, including valvar stenoses and vascular obstructions. Section 3 includes chapters that cover interventions to close various pathologic intracardiac communications and vascular anomalies. Section 4 includes chapters covering interventions performed to create or enlarge intracardiac communications, as well as other interventions. Section 5 focuses on the applications of catheterization and transcatheter interventions in the evaluation and management of specific patient populations. This problem-based or patient-based focus, which is substantially expanded from the previous edition of the book, reflects the expanding role of catheterization in the comprehensive management of pediatric and congenital heart disease, and addresses emerging applications of transcatheter interventions, including management of the patient receiving extracorporeal circulatory support, hybrid transcatheter-surgical interventions, and prenatal cardiac intervention. Section 6 includes two chapters that cover outcome assessment and regulatory issues pertinent to the pediatric cardiology in general and interventional cardiology in particular.

This book deals with the acquisition and extraction of the various morphological features of the electrocardiogram signals.

In the first chapters the book first presents data fusion and different data mining techniques that have been used for the cardiac state diagnosis. The second part deals with heart rate variability (HRV), a non-invasive measurement of cardiovascular autonomic regulation.

Next, visualization of ECG data is discussed, an important part of the display in life threatening state. Here, the handling of data is discussed which were acquired during several hours.

In the following chapters the book discusses aortic pressure measurement which is of significant clinical importance. It presents non-invasive methods for analysis of the aortic pressure waveform, indicating how it can be employed to determine cardiac contractility, arterial compliance, and peripheral resistance. In addition, the book demonstrates methods to extract diagnostic parameters for assessing cardiac function. Further the measurement strategies for contractile effort of the left ventricle are presented.

Finally, the book concludes about the future of cardiac signal processing leading to next generation research topics which directly impacts the cardiac health care.

The editors thank Biocom Technologies for the provided scientific material and help in writing the book.

The last five years have witnessed an increasing interest in the subject of transmyocardial laser revascularization (TMR) as illustrated by the number of abstracts presented at the meetings of the American Heart Association and the American College of Cardiology (Figure). The ideas and concepts associated with this particular method of myocardial revascularization have changed dramatically over even this short period of time. The original premise of "de-evolving" mammalian hearts to recreate a reptilian-like myocardial circulation by making multiple channels through the myocardium has been almost (but perhaps not quite) completely dismissed. Now, the most popular notion is that there is an angiogenic response to myocardial channel making. It is this development of new blood vessels that is thought to be responsible for the apparent improvements in symptoms and blood flow. Along the way, the idea that a channel could stay open and allow blood to flow directly from the ventricular chamber has found little support. Rather than directly explore all of these issues and merely duplicate previously published articles, our aim was to take a novel approach: that is, to step back from these arguments and provide perspective from the vantage point of distance. In the case of trans myocardial revascularization, distance comes both in terms of history and in terms of methodology and knowledge from other fields of research. Historically, innovative methods of myocardial revascularization are by no means uncommon. The first two chapters deal with this historical' perspective.

Chronic kidney disease with a worldwide prevalence of 10% in the general population is emerging as a major public health priority. Renal dysfunction is associated with a high risk for cardiovascular complications. The relationship between renal insufficiency and cardiovascular disease, termed the cardiorenal syndrome exists whether impairment of renal function is a consequence of primary renal parenchymal disease or primary heart disease.

Several pathophysiologic mechanisms have been postulated to explain the relationship between renal dysfunction and cardiovascular disease. Recent studies indicate an integrated response of the vascular smooth muscles and glomerular mesangial cells to traditional and uremia related cardiovascular risk factors. Traditional risk factors can incite renal impairment and cardiac damage. As renal function deteriorates, uremia-related risk factors play an increasing role both in reduction in glomerular filtration rate and cardiovascular damage. Several uremia related factors such as uncontrolled hypertension, disturbed glucose insulin metabolism, microalbuminuria, phosphate retention, secondary hyperparathyroidism, myocardial and vascular calcification, hypertensive-uremic cardiomyopathy, inflammation, oxidant injury, and neurohormonal dysregulation have been implicated in the pathogenesis of the cardiorenal syndrome. Recent data suggest that management of the cardiorenal syndrome requires aggressive control of traditional risk factors as well novel approaches to prevent or reverse uremia related processes.

This book provides a comprehensive update analysis of our current understanding of the cardiorenal syndrome including epidemiology, pathophysiologic mechanisms, and therapeutic approaches.

Pulmonary thromboembolism in Japan is currently associated with a high mortality rate and remains a concern for patients and medical staff alike. Moreover, as the mechanisms of the condition have been elucidated, it has become clear that much work needs to be done in the field to achieve acceptable results in this country. Thus, Japan has regularly played host to the International Symposium on Pulmonary Thromboembolism . At the most recent symposium, in Sendai, the epidemiology and the treatment of pulmonary thromboembolism, traveler's thrombosis, and the prevention of deep vein thromboembolism were discussed, particularly with reference to the differences between Japan and Western countries. The fruits of the collaboration between that assembly of international specialists can be found in this collection of work. It provides an in-depth look at the current concepts that guide the treatment and prevention of the disease, and at the problem areas that must be improved upon.

One of the most important developments in the field of cardiovascular medicine over the last two decades has been recognition of the key role played by arterial thrombosis in the pathogenesis of acute coronary syndromes, ischemic complications of percutane- ous coronary revascularization, and coronary and peripheral atherosclerosis. The phar- macologic armamentarium directed against vascular thrombosis has thus expanded substantially during that time, with development of new fibrinolytic agents, low-molecu- lar-weight heparins, direct thrombin inhibitors, antagonists to platelet activation, and the platelet glycoprotein lIb/IlIa inhibitors. Though clinical investigations of these com- pounds have been marked by failures as well as successes, there is little doubt that enhanced antithrombotic therapies have markedly improved the outcome of patients undergoing coronary revascularization or with acute coronary syndromes. Glycoprotein IIblIlIa receptor antagonists were introduced into clinical practice to overcome the limitations of approaches that inhibit only individual pathways of platelet activation. Multiple mechanisms of platelet activation in response to different agonists converge on the platelet membrane glycoprotein IIblIlIa complex, the "final common pathway" of platelet aggregation. The clinical hemorrhagic syndrome caused by a rare inherited defect in this receptor (Glanzmann' s thrombasthenia), characterized by muco- cutaneous and postsurgical bleeding, but infrequent spontaneous organ (particularly central nervous system) bleeding, suggested that therapeutic inhibition of this receptor might be a potent, yet well-tolerated means of treating thrombotic disorders.

Sunao Tawara's epoch-making work on the excitation conduction system of the mammalian heart paved the way for the advancement of modern cardiology in the 20th century. Even today, more than 90 years after the publication of the German monograph "Das Reizleitungssystem des Saugetierherzen", his precise account of the conduction system from the atrioventricular node through the His-Purkinje system to the ordinary ventricular muscle fibers retains all of its original actuality.This English edition of Tawara's monograph will serve as an invaluable reference for both basic and clinical cardiological research in the years ahead.

Because stroke is essentially a disease of the vessels and blood flow, the most fundamental aspects of ischemic blood flow in the brain are under investigation by researchers. Their work was the focus of the sixth in the series of Keio University International Symposia for Life Sciences and Medicine, held in Tokyo in 1999. Selected here are 55 papers from the symposium, covering the buffy coat (glycocalyx) of endothelial cells, the blood-brain barrier and permeability, gene expression, vascular reactivity, dysregulation, inflammatory deterioration, cortical spreading depression, edema, microvascular derangement, and pathology, in ten major sections. The book includes the thought-provoking discussions that followed the presentations, thus providing an invaluable source of up-to-date information not only for researchers investigating microcirculation but also for clinicians implementing the most effective treatment for stroke patients.

Prominent researchers and clinicians describe in detail all the latest laboratory techniques currently used to define the molecular genetic basis for congenital malformations of the heart, cardiomyopathies, cardiac tumors, and arrythmias in human patients. In particular, the methods can be used to identify in clinical samples those genetic mutations responsible for such congenital abnormalities as Marfan syndrome, Williams-Beuren Syndrome, Alagille syndrome, Noonan syndrome, and Friedreich ataxia. The authors also discuss the limitations of identifying patients with congenital heart disease using these techniques during both pre- and postnatal periods.