Author + information
- Received January 25, 2019
- Revision received April 15, 2019
- Accepted April 16, 2019
- Published online July 29, 2019.
- Ronald M. Witteles, MDa,
- Sabahat Bokhari, MDb,
- Thibaud Damy, MD, PhDc,
- Perry M. Elliott, MBBS, MDd,
- Rodney H. Falk, MDe,
- Nowell M. Fine, MD, SMf,
- Mariana Gospodinova, MDg,
- Laura Obici, MDh,
- Claudio Rapezzi, MDi and
- Pablo Garcia-Pavia, MD, PhDj,k,∗ ()
- aStanford Amyloid Center, Division of Cardiovascular Medicine, Stanford University School of Medicine, Stanford, California
- bColumbia University Medical Center & New York Presbyterian Hospital, College of Physicians and Surgeons, Columbia University, New York, New York
- cDepartment of Cardiology, Centre Hospitalier Universitaire Henri Mondor, Créteil, France
- dThe Inherited Cardiac Diseases Unit, Bart’s Heart Centre, St. Bartholomew's Hospital & UCL Centre for Heart Muscle Disease, Institute of Cardiovascular Science, University College London, London, United Kingdom
- eDivision of Cardiovascular Medicine, Brigham and Women's Hospital, Boston, Massachusetts
- fLibin Cardiovascular Institute of Alberta, University of Calgary, Calgary, Alberta, Canada
- gIntensive Care Unit, Clinic of Cardiology, Medical Institute, Ministry of Interior, Sofia, Bulgaria
- hAmyloidosis Research and Treatment Centre, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy
- iDepartment of Experimental, Diagnostic and Specialty Medicine, University of Bologna, Bologna, Italy
- jHeart Failure and Inherited Cardiac Diseases Unit, Department of Cardiology, Hospital Universitario Puerta de Hierro Majadahonda, CIBERCV, Madrid, Spain
- kUniversity Francisco de Vitoria (UFV), Pozuelo de Alarcon, Madrid, Spain
- ↵∗Address for correspondence:
Dr. Pablo Garcia-Pavia, Department of Cardiology, Hospital Universitario Puerta de Hierro, Manuel de Falla, 2. Majadahonda, Madrid 28222, Spain.
• ATTR-CM is a life-threatening, progressive disease that is often underdiagnosed and misdiagnosed.
• Certain clinical scenarios have been identified that now warrant screening for ATTR-CM.
• Once ATTR-CM is suspected, a definitive diagnosis can usually be achieved noninvasively.
• Accurate, early diagnosis of ATTR-CM is key to enabling appropriate patient care.
Transthyretin amyloid cardiomyopathy (ATTR-CM) is a life-threatening, progressive, infiltrative disease caused by the deposition of transthyretin amyloid fibrils in the heart, and can often be overlooked as a common cause of heart failure. Delayed diagnosis due to lack of disease awareness and misdiagnosis results in a poorer prognosis. Early accurate diagnosis is therefore key to improving patient outcomes, particularly in the context of both the recent approval of tafamidis in some countries (including the United States) for the treatment of ATTR-CM, and of other promising therapies under development. With the availability of scintigraphy as an inexpensive, noninvasive diagnostic tool, the rationale to screen for ATTR-CM in high-risk populations of patients is increasingly warranted. Here the authors propose a framework of clinical scenarios in which screening for ATTR-CM is recommended, as well as diagnostic “red flags” that can assist in its diagnosis among the wider population of patients with heart failure.
Dr. Witteles has received grants from Pfizer, Alnylam, and Eidos; and has received personal fees from Pfizer and Alnylam. Dr. Bokhari has received personal fees from Pfizer. Dr. Damy has received grants from Pfizer and Akcea; and has received personal fees from Pfizer, Alnylam, Ionis, Akcea, Prothena, and Neurimmune. Dr. Elliott has received grants from Pfizer; and has received personal fees from Pfizer and Alnylam. Dr. Falk has received personal fees from Alnylam, Ionis, Pfizer, Akcea, and Caelum. Dr. Fine has received grants and personal fees from Pfizer, Alnylam, and Akcea. Dr. Gospodinova has received personal fees from Pfizer. Dr. Obici has received personal fees from Pfizer, Alnylam, and Akcea. Dr. Rapezzi has received grants from Pfizer; and has received personal fees from Pfizer, Alnylam, and Prothena. Dr. Garcia-Pavia has received grants from Pfizer, Alnylam, and Prothena; and has received personal fees from Pfizer, Eidos, Alnylam, Prothena, Neuroimmune, and Akcea.
- Received January 25, 2019.
- Revision received April 15, 2019.
- Accepted April 16, 2019.
- 2019 The Authors
- Central Illustration
- ATTR-CM Manifestations and Management
- Delay to Diagnosis and Misdiagnosis of ATTR-CM
- Clinical Scenarios and “Red Flags” for ATTR-CM
- Clinical Scenarios That Would Warrant Screening for ATTR-CM
- Red Flags for ATTR-CM
- Achieving a Definitive Diagnosis of ATTR-CM