Cardiac Amyloidosis in Women: An Underappreciated Diagnosis

Abstract

Cardiac amyloidosis (CA) is an infiltrative cardiomyopathy that affects the heart mostly in two forms: immunoglobulin light chain amyloidosis (AL-CM) and transthyretin amyloidosis. Transthyretin amyloid cardiomyopathy (ATTR-CM) predominantly affects the elderly population, mainly men (about 70-80%), and usually manifests with symptoms of heart failure (HF). Despite technological advances in medicine, CA is still an underdiagnosed condition, especially in women, partly due to the known male predominance and high level of suspicion required for diagnosis. It is important to remember that amyloidosis is a systemic disease with a heterogeneous and non-specific presentation. It’s worth paying attention to the patient’s medical history and red flags in clinical and diagnostic tests (electrocardiogram [ECG], echocardiogram [ECHO], cardiac magnetic resonance [CMR]). Accurate and timely diagnosis is crucial for appropriate management and prognosis. So far, the under-representation of women in clinical trials may have also limited the evidence on sex-specific diagnosis, and outcomes.