Hereditary ATTR Amyloidosis: The Role of Genetic Testing and Recommendations for Genetic Carriers скачать в хорошем качестве

Hereditary ATTR Amyloidosis: The Role of Genetic Testing and Recommendations for Genetic Carriers

In this ARC TALKS webinar, cardiologist Dr. Ahmad Masri MD, MS and genetic counselor Emily Brown, MGC, CGC discuss the role of genetic testing in hereditary ATTR amyloidosis care, along with providing disease management recommendations for genetic carriers. Emily addresses the importance of genetic counseling while sharing tips to support patients and family members on their journey of genetic counseling. In addition to giving an overview of hereditary ATTR amyloidosis, Dr. Masri discusses the link between hereditary ATTR amyloidosis and genetic predisposition. Dr. Masri also guides asymptomatic and symptomatic carriers with recommendations for monitoring disease progression and identifying symptoms. The presentation is followed by a Q and A section. 0:00 Introduction 4:30 Emily's Presentation Begins 6:41 Intro to Genetic Counseling 17:32 Testing Considerations 24:33 Summary of Genetic Counseling Presentation 25:34 Dr. Masri's Presentation Begins 26:55 Definition of Transthyretin Amyloidosis 27:12 Definition of Hereditary Transthyretin Amyloidosis 32:00 Scenarios of Hereditary Transthyretin Amyloidosis 33:13 Who Should Undergo Genetic Testing? 35:05 Disease Development Surveillance 40:54 Summary of Dr. Masri's Presentation 42: 28 Q and A 57:37 Closing Remarks