Aneurysms-Osteoarthritis Syndrome: SMAD3 Gene Mutations is a first-of-its-kind compilation of the genetic discovery, research, and care associated with AOS. With the field of genetically triggered aortopathies growing, this important reference will compile the newest discoveries in this field, allowing cardiologists, cardio-thoracic surgeons, clinical geneticists, vascular surgeons, orthopedic surgeons, and researchers to gain the knowledge they need without having to gather the data from various sources. Coverage includes genotype and phenotype correlations, the functional role of SMAD3, and insights into the role of TGFbeta signaling in aortic disease. The book will increase knowledge about AOS, providing awareness and better patient care for this aggressive disease. - Covers Aneurysms-Osteoarthritis Syndrome, from genetic discovery to patient care - Contains clinical management guidance on optimal cardiovascular treatments and surgery - Explains the autosomal dominant syndromes caused by mutations in the SMAD3 gene - Identifies the key features of this syndrome, including arterial aneurysms and tortuosity, early onset arthritis, and mild craniofacial features

This is the first textbook to focus on Aortopathy, a new clinical concept for a form of vasculopathy. The first section of the book starts from discussing general concept and history of Aortopathy, and then deals with its pathophysiology, manifestation, intrinsic factor, clinical implication, management and prevention. The second part closely looks at various disorders of the Aortopathy such as bicuspid aortic valve and coarctation of aorta. The book editors have published a lot of works on the topic and have been collecting relating data in the field of congenital heart disease for the past 20 years, thus present the book with confidence. The topic - an association of aortic pathophysiological abnormality, aortic dilation and aorto-left ventricular interaction - is getting more and more attention among cardiovascular physicians. This is the first book to refer for cardiologists, pediatric cardiologists, surgeons, ACHD specialists, etc. to acquire thorough knowledge on Aortopathy.

This book is an up-to-date summary of all aspects of aortic disease, written by international experts in their fields, covering diagnostic concepts of all aortic diseases, the most modern therapeutic approaches in various aortic syndromes, the pathogenic origin and the most recent molecular and cellular findings that have revolutionized our present knowledge of aortic diseases. The reader will come to understand the aorta as a functional organ with a complex regulatory system rather than just a major arterial vessel, and will have a better understanding of the prognostic impact of various aortic syndromes, and of the most recent therapeutic concepts for chronic as well as acute aortic pathology. As a unique feature of this book, the aorta is placed in the center of systemic illnesses, such as atherosclerosis, diabetes, hypertension, infectious diseases and connective tissue disorders, storage diseases, trauma and toxic factors; this concept aims to attract the attention of both clinical specialties such as cardiology, radiology and cardiovascular surgery and adjacent areas like pathology and clinical genetics. The book portrays the aorta as an integral part of the cardiovascular system and the entire organism and features the complexity and clinical impact of all major aortic diseases.

Aortic aneurysms and dissections are common problems worldwide. Although surgery outcomes are improving, etiology remains elusive and absolute methods of primary prevention remain unknown. This book addresses these areas and provides future directions for clinicians and researchers who are involved in aortic disease. It reviews diagnosis and surveillance of aortic root dilation, mycotic aortic aneurysm, and the role of human immunodeficiency virus. Written by international experts, chapters discuss such topics as animal models for abdominal aortic aneurysm, safe methods of repairing type A aortic dissection, and challenges in data image analysis. This book provides a simple framework for those who want to understand the principles of aortic aneurysm and aortic dissection repair.

Cardiac Problems in Pregnancy offers clinicians the most detailed and comprehensive guide to diagnosing and managing pregnancy-associated cardiovascular diseases currently available. Covering a wide spectrum of congenital and acquired cardiovascular conditions, its extensive contents examine diseases of the heart with an expert awareness of the implications of pregnancy and the attendant physiological changes it brings. Such guidance is vitally required in an age in which congenital and acquired heart diseases are the leading causes of non-obstetrical maternal morbidity and mortality. Featuring 36 new or extensively revised chapters, this fourth edition of the book complements coverage of the latest research and clinical advances with a complete and up-to-date bibliography of literature on pregnancy in women with cardiovascular conditions. It also serves as a practical, step-by-step companion for those caring for heart disease patients during pregnancy, labor, and the post-partum period. Contents include: Coverage of all elements of maternal cardiology Newly written chapters featuring fresh research and data Guidance on performing risk assessments and interventions both prior to and during gestation Explanations of a range of diagnostic and therapeutic approaches to cardiovascular disease in pregnant patients Drawing on expertise from across the fields of cardiovascular medicine, obstetrics, anesthesiology, cardiac surgery, pharmacology, and clinical science, Cardiac Problems in Pregnancy is designed to give invaluable support to all medical professionals involved in maximizing the safety and success of cardiologically complex pregnancies.

Companion volume to: Mayo Clinic internal medicine board review. 10th ed. c2013.

This volume is a reference handbook focusing on diseases like Marfan syndrome, Ehlers-Danlos syndrome, Loeys-Dietz syndrome and other heritable soft connective tissue diseases. The book presents detailed information for both basic scientists and for clinicians seeing patients. It is also a stepping stone for new investigations and studies that goes beyond the facts about the composition and biochemistry of the connective tissue and extracellular matrix, as the authors connect individual components to specific aspects of various soft tissue disorders and to the actual or potential treatment of them. Progress in Heritable Soft Connective Tissue Diseases features very prominent physicians and scientists as contributors who bring their most recent discoveries to the benefit of readers. Their expertise will help clinicians with proper diagnosis of sometimes elusive and uncommon heritable diseases of soft connective tissues. This book also offers an update on the pathophysiology of these diseases, including an emphasis on unifying aspects such as connections between embryonic development of the different types of connective tissues and systems, and the role of TGF-beta in development and physiology of soft tissues. This new set of data explains, at least in part, why many of these disorders are interconnected, though the primary pathophysiological events, such as gene mutations, may be different for each disorder.

MANAGEMENT OF GENETIC SYNDROMES THE MOST RECENT UPDATE TO ONE OF THE MOST ESSENTIAL REFERENCES ON MEDICAL GENETICS Cassidy and Allanson’s Management of Genetic Syndromes, Fourth Edition is the latest version of a classic text in medical genetics. With newly covered disorders and cutting-edge, up-to-date information, this resource remains the most crucial reference on the management of genetic syndromes in the field of medical genetics for students, clinicians, caregivers, and researchers. The fourth edition includes current information on the identification of genetic syndromes (including newly developed diagnostic criteria), the genetic basis (including diagnostic testing), and the routine care and management for more than 60 genetic disorders. Written by experts, each chapter includes sections on: Incidence Diagnostic criteria Etiology, pathogenesis and genetics Diagnostic testing Differential diagnosis Manifestations and Management (by system) The book focuses on genetic syndromes, primarily those involving developmental disabilities and congenital defects. The chapter sections dealing with Manifestations and Management represents the centerpiece of each entry and is unmatched by other genetic syndrome references. Management of Genetic Syndromes is perfect for medical geneticists, genetic counselors, primary care physicians and all healthcare professionals seeking to stay current on the routine care and management of individuals with genetic disorders.

This book provides information on the acquired and genetic basis of aortic diseases as well as giving a global perspective on therapeutic alternatives. The new concept of a team approach with surgeons working together with both interventional radiologists and specialists to repair the aorta is the trademark of this book. New material and new viewpoints are provided to practicing physicians in this modern approach to the treatment of disorders of the aorta.