hATTR Hereditary Transthyretin Amyloidosis: Recognizing the Needle in the Genetic Haystack

Hereditary transthyretin amyloidosis, or hATTR, is a rare genetic disorder caused by the mis-folding and build-up of the transthyretin protein. Patients with this disorder present with a variety of clinical conditions including cardiomyopathy, neuropathy, and GI symptoms. When counseling a patient with hATTR, genetic counselors need to take a detailed family history and know what questions to ask to cover this vast range of symptoms. 

On-Demand Education Modules

This education provides 4 patient cases to demonstrate the variety of patients with TTR amyloidosis genetic counselors may see. Discussions between expert physicians and specialized genetic counselors bring these patient cases to life in this interactive activity. Resources for genetic counselors and their patients are also available.

Live Webcast

Did you complete the free CEU course on this topic? Questions submitted by learners were answered in a live webcast. View the Recording

Learning Objectives

Upon completion of the activity, participants should be able to:

  • Review the pathology and epidemiology of ATTR and its manifestations
  • Discuss the diagnostic and classification process for amyloidosis
  • Differentiate between hATTR and ATTRwt based on genetic testing
  • Identify hATTR mutations based on genetic testing results
  • Summarize available and emerging treatment options for hATTR
  • Review the presently available options for patient education


Emily Brown, MGC, CGC

Certified Genetic Counselor

Center for Inherited Heart Disease

Johns Hopkins Hospital


Shawna Feely, MS, LGC

Licensed Genetic Counselor

Department of Neurology

University of Iowa


Mathew S. Maurer, MD

Professor of Medicine

Department of Medicine

Division of Cardiology

Arnold and Arlene Goldstein Professor of Cardiology

Medical Director, Clinical Cardiovascular Research Laboratory for the Elderly (CCRLE)

Columbia University


Michael E. Shy, MD

Director, Division of Neuromuscular Medicine

Professor of Neurology, Pediatrics and Molecular Physiology and Biophysics

Carver College of Medicine

University of Iowa

On-Demand Modules 

Module 1: Introduction to TTR Amyloidosis

Dr. Mathew Maurer and Emily Brown

Module 2: ATTR-Cardiomyopathy: Wild Type vs. Hereditary Cases

Dr. Mathew Maurer and Emily Brown

Module 3: hATTR-Neuropathy: Introduction and Case Example

Dr. Michael Shy and Shawna Feely

Module 4: hATTR: A Case With a Mixed Phenotype

Dr. Michael Shy and Shawna Feely

Purchase Information

This activity is provided by the National Society of Genetic Counselors in collaboration with The France Foundation. It is available at no cost to genetic counselors. This activity is supported by educational grants from Akcea Therapeutics, Alnylam, and Pfizer. Register for the live webcast to be held on August 3. Add this complimentary course to your cart, then complete the free checkout process to gain access to this course.

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Continuing Education

Accreditation Statement 

The France Foundation is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians.

Genetic Counselors

The National Society of Genetic Counselors (NSGC) has authorized The France Foundation to offer up to 0.1 CEUs or 1 Category 1 contact hours for the activity Hereditary Amyloid Transthyretin Amyloidosis: Recognizing the Needle in a Genetic Haystack. The American Board of Genetic Counseling (ABGC) will accept CEUs earned at this program for the purposes of genetic counselor certification and recertification.


The France Foundation designates this enduring activity for a maximum of 1.0 AMA PRA Category 1 Credit(s)™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.


Nurses who are certified by the American Nurses Credentialing Center (ANCC) may utilize activities that are certified by ACCME-accredited providers toward their requirement for certification renewal by the ANCC. A certificate of attendance will be provided by The France Foundation, an ACCME accredited provider.


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