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Inherited Cardiac Disease: Unraveling the Genetic Basis of Heart Health

Devin Ross

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Published in Inherited Cardiac Disease (Oxford Specialist Handbooks In Cardiology)

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Cardiovascular diseases remain a formidable global health burden, afflicting millions worldwide. Among these, inherited cardiac diseases hold a unique and often challenging aspect, as they arise from genetic variants that disrupt normal heart function. Understanding the genetic underpinnings of these conditions is paramount for accurate diagnosis, effective management, and improved patient outcomes.

The book "Inherited Cardiac Disease: Oxford Specialist Handbooks in Cardiology" provides a comprehensive overview of this complex and multifaceted field. Written by leading experts in cardiovascular genetics, this essential handbook equips healthcare professionals with the knowledge and tools to navigate the emerging landscape of genetic testing, interpretation, and personalized medicine for inherited cardiac diseases.

Inherited Cardiac Disease (Oxford Specialist Handbooks in Cardiology)

by Terry J. Hannan

5 out of 5

Language	:	English
File size	:	29582 KB
Text-to-Speech	:	Enabled
Screen Reader	:	Supported
Enhanced typesetting	:	Enabled
Print length	:	427 pages
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Genetic Basis of Inherited Cardiac Disease

The development of inherited cardiac diseases is intricately linked to variations in specific genes that play crucial roles in heart structure and function. These genetic mutations can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner, each with its unique inheritance pattern and clinical implications.

The handbook thoroughly examines the genetic basis of various inherited cardiac diseases, including hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, and long QT syndrome. It provides detailed descriptions of the genes involved, their normal functions, and the consequences of specific mutations.

Clinical Manifestations and Diagnosis

Inherited cardiac diseases present with a wide spectrum of clinical manifestations, from asymptomatic individuals to those with severe and potentially life-threatening symptoms. The handbook provides a systematic approach to clinical assessment, focusing on the key features, diagnostic criteria, and differential diagnoses of each condition.

Specific attention is given to the role of electrocardiography, echocardiography, cardiac magnetic resonance imaging, and genetic testing in the diagnostic workup of inherited cardiac diseases. The authors emphasize the importance of integrating clinical findings with genetic data to reach an accurate diagnosis and guide management strategies.

Management and Risk Stratification

The management of inherited cardiac diseases involves a multidisciplinary approach, tailored to the specific condition, genetic variants, and individual patient characteristics. The handbook covers the latest evidence-based therapies, including pharmacological interventions, device therapies, and surgical procedures.

A vital aspect of inherited cardiac disease management is risk stratification, which helps identify individuals at high risk of developing complications. The handbook describes various risk assessment tools and strategies, including genetic testing and clinical risk factors, to guide decision-making and optimize patient outcomes.

Genetic Counseling and Family Screening

Inherited cardiac diseases often affect multiple family members, highlighting the importance of genetic counseling and family screening. The handbook provides a comprehensive overview of the principles and practices of genetic counseling, including risk communication, genetic testing options, and family planning strategies.

Detailed guidance is given on the interpretation of genetic test results, the implications for family members, and the ethical considerations surrounding genetic testing in the context of inherited cardiac diseases.

"Inherited Cardiac Disease: Oxford Specialist Handbooks in Cardiology" is an invaluable resource for healthcare professionals involved in the diagnosis and management of these challenging conditions. Its comprehensive coverage of the genetic basis, clinical manifestations, management strategies, and genetic counseling provides a solid foundation for optimizing patient care and improving outcomes.

With the rapid advances in genetic testing and the growing understanding of inherited cardiac diseases, this handbook serves as an essential reference for cardiologists, geneticists, and other healthcare professionals seeking to stay abreast of this evolving field and provide the best possible care for their patients.

Inherited Cardiac Disease (Oxford Specialist Handbooks in Cardiology)

by Terry J. Hannan

5 out of 5