Dear Colleagues,

Cardiac amyloidosis is a rapidly progressive, debilitating, and fatal infiltrative cardiomyopathy caused by the extracellular deposition of misfolded amyloid proteins within the myocardium. The two most common types affecting the heart are transthyretin amyloidosis (ATTR) and light chain amyloidosis (AL), which account for 95% of all cardiac amyloidosis.

1. Early Recognition and Diagnosis

Early diagnosis is essential for optimal outcomes. Cardiac amyloidosis should be suspected in patients with unexplained heart failure with preserved ejection fraction (HFpEF), increased left ventricular wall thickness, low voltage on ECG, or characteristic findings on echocardiogram and cardiac MRI.

Diagnosis is confirmed by:

• Bone scintigraphy (e.g., 99mTc-PYP, HDP or DPD scan) to detect ATTR.
• Serum and urine immunofixation and free light chain assay to rule out AL.
• Tissue biopsy with Congo red staining if necessary.
• Genetic testing to distinguish wild-type from hereditary ATTR.

2. Treatment Strategies

     a. AL Amyloidosis

• Urgent treatment of plasma cell dyscrasia with chemotherapy (e.g., bortezomib-based regimens) and consideration of autologous stem cell transplant should be instituted in eligible patients.
• Supportive cardiac care is critical, including management of heart failure symptoms with diuretics.

     b. ATTR Amyloidosis

• Tafamidis, acoramidis and vutrisiran are FDA-approved for ATTR-CM and have been found to improve survival and quality of life.
• Patisiran, vutrisiran and eplontersen are FDA-approved for hereditary ATTR-Polyneuropathy and slow the progression of neuropathy and improve quality of life.
• Supportive care includes cautious use of diuretics; and conventional heart failure therapies (beta-blockers, ACE inhibitors), which are often poorly tolerated.

3. Advanced Care

Selected patients may be considered for heart transplantation, particularly in AL after hematologic remission or in ATTR with advanced symptoms.

4. Multidisciplinary Approach

Management requires collaboration among cardiologists, hematologists, neurologists, and genetic counselors. Close monitoring for progression and treatment-related complications is essential.

Future directions involve the development of improved diagnostic tools, earlier detection through screening in at-risk populations, and increased access to disease-modifying therapies.

We invite submissions in the following areas, including but not limited to: early recognition and diagnosis, treatment strategies, advanced care, and multidisciplinary approaches to cardiac amyloidosis.

Dr. Sabahat Bokhari
Guest Editor