Original research lending to the body of evidence surrounding the management and treatment of amyloidosis, as well as focused case challenges, state-of-the-art reviews, primers and international perspectives, complete a special JACC: CardioOncology amyloidosis issue released on Oct. 19.

On the original research front, a new study by Jose Nativi-Nicolau, MD, FACC, et al., explores temporal trends in wild-type amyloidosis transthyretin (ATTRwt) diagnoses using data from the Transthyretin Amyloidosis Outcomes Survey (THAOS). While the findings show an increase in ATTRwt amyloidosis diagnoses worldwide over the last decade, THAOS suggests patients are still being diagnosed several years after symptom onset. There is a need for future research to further examine barriers to diagnosis, the authors note.

In another study looking at the characterized prevalence of pathogenic/likely pathogenic variants in TTR identified through genomic screening, researchers found evidence of underdiagnosed amyloid cardiomyopathy from health records. According to Brendan J. Carry, MD, et al., the findings “provide a proof-of-concept for a genome-first approach to the identification of (hereditary ATTR) cardiomyopathy.” They also say the findings can help “to inform the potential inclusion of the TTR gene in recommendations on secondary findings reporting and population-based genomic screening analyses.”

In a smaller pilot study of concomitant transthyretin amyloidosis and severe aortic stenosis (AS) in an elderly Indian population, researchers led by Aayush Kumar Singal, MD, found that dual disease is not uncommon in India and that isolated valvular amyloidosis in severe AS is more common. Based on the findings, the authors suggest that “patients with severe AS should be screened for TTR amyloidosis, especially in the presence of red flags.” Additionally, they note that “patients with dual disease should be monitored closely even after aortic valve replacement  (AVR), considering the trend towards worse post AVR survival seen in many studies.”

Lastly, an original research study by Rodney H. Falk, MD, FACC, et al., looked at the effect of tafamidis on serum transthyretin levels in nontrial patients with transthyretin amyloid cardiomyopathy. The researchers found that tafamidis “consistently increases” serum TTR levels in patients with ATTR cardiomyopathy, consistent with its effect on stabilizing TTR. They conclude that moving forward, “measurement of TTR level change post-TTR stabilizing therapy might be a surrogate for stabilization and could be a more accurate measure of drug efficacy than an in vitro nonphysiologic test of stabilization.”

In addition to original research, three separate state-of-the-art reviews address current chemotherapy and immune therapy treatment strategies in patients with AL amyloidosis; current and emerging management strategies for ATTR amyloidosis; and electrophysical manifestations of cardiac amyloidosis, respectively, while two cardio-oncology primers provide insights into cardiac transplantation and mechanical circulatory support in amyloidosis, as well as how to screen for monoclonal gammopathy in patients with suspected amyloidosis. Also in the issue, Roberta Shcolnik Szor, MD, and colleagues, offer an inside-look at establishing an amyloid cardiomyopathy patient referral center in Brazil, while Suvir Singh, MD, et al., share perspectives on the challenges and opportunities associated with the management of amyloid cardiomyopathy in resource-constrained settings.

Read the full issue.

Clinical Topics: Arrhythmias and Clinical EP, Cardiac Surgery, Cardio-Oncology, Cardiovascular Care Team, Heart Failure and Cardiomyopathies, Invasive Cardiovascular Angiography and Intervention, Valvular Heart Disease, Genetic Arrhythmic Conditions, Aortic Surgery, Cardiac Surgery and Arrhythmias, Cardiac Surgery and Heart Failure, Cardiac Surgery and VHD, Heart Transplant, Interventions and Structural Heart Disease

Keywords: Pharmaceutical Preparations, Genomics, Aortic Valve Stenosis, Heart Transplantation, Cardiomyopathies, Benzoxazoles, Amyloid Neuropathies, Familial, Noncommunicable Diseases, Emblems and Insignia, Prevalence, Aortic Valve, Immunoglobulin Light-chain Amyloidosis, Prealbumin, Pilot Projects, Cardiotoxicity

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