Abstract
Background: Amyloidosis is an infiltrative cardiomyopathy caused by amyloid deposition into the myocardium. In recent years, recognition of this treatable cause of heart failure has increased. There are striking sex differences in the diagnosis, clinical course and outcome of the disease. Notably, women have a worse prognosis than men with similar amounts of cardiac involvement. Methods: This review provides an overview of the current state of knowledge regarding the epidemiology, clinical features, diagnosis and treatment of amyloid heart disease. The differences observed between men and women are discussed, and recent advances in the field are highlighted. Results: Compared to men, women are generally older at diagnosis, appear to have less severe cardiac disease at the time of impairment and are more frequently diagnosed late. The less apparent disease manifestations in women may be responsible for the delay in diagnosis. Moreover, women may be underdiagnosed when sex-neutral diagnostic criteria are used. Conclusions: Addressing diagnostic disparities may require the use of sex-specific diagnostic thresholds, as well as a more expansive use of multimodality imaging. Future clinical trials should aim to enroll a greater number of female participants to inform optimal therapeutic approaches and to define the sex-specific disease phenotype for this increasingly treatable disease.
Keywords:amyloidosis; transthyretin; cardiac amyloidosis; women; sex differences; ATTR; diagnostic delay; gender disparities; heart failure