Cardiac Amyloidosis

Thanks Dr. Ellis for presenting a case of cardiac amyloidosis. For those who missed it, the case was of a 70 y/o iron man participant who developed exercise-induced fatigue. His labs were unremarkable, and his EKG was notable for new TWIs in the anterolateral leads. Echo showed left atrial enlargement and RVSP of 41. His left heart cath was clean but cardiopulmonary exercise testing suggested chronotropic incompetence, leading to pacemaker placement. Despite multiple adjustments to the pacer, he continued to have symptoms and sought further counsel. In the end, cardiac MRI showed late gadolinium enhancement, and subsequent endomyocardial biopsy revealed cardiac amyloid.

Key points:

  • Classic presentation for cardiac amyloidosis is HFpEF
  • Key physical exam findings may include periorbital bruising and macroglossia
 Left: small periorbital bruise; Right: macroglossia  Images courtesy of JACC 2016 article entitled  AL (light-chain) Cardiac Amyloidosis: A Review of Diagnosis and Therapy

Left: small periorbital bruise; Right: macroglossia

Images courtesy of JACC 2016 article entitled AL (light-chain) Cardiac Amyloidosis: A Review of Diagnosis and Therapy

  • Approximately 50% of patients will have low voltage on ECG
  • Cardiac MRI shows late gadolinioum enhancement over the entire subendocardial circumference
 MR to aid in diagnosis of cardiac amyloid and estimate or amyloid burden.  Images courtesy of JACC 2016 article entitled  AL (light-chain) Cardiac Amyloidosis: A Review of Diagnosis and Therapy

MR to aid in diagnosis of cardiac amyloid and estimate or amyloid burden.

Images courtesy of JACC 2016 article entitled AL (light-chain) Cardiac Amyloidosis: A Review of Diagnosis and Therapy

  • Definitive diagnosis requires endomyocardial biopsy with Congo red staining but consider less invasive non-cardiac biopsy before obtaining endomyocardial biopsy