Pt no. indicates patient number (number sequence represents the same patients in Table 1 and Table 2, at presentation and during evaluation for LKT, respectively); Cr Cl, creatinine clearance; ESRF, end-stage renal failure (glomerular filtration rate 15 mL/min or less); HTN, hypertension; TIA, transient ischemic attack; CVA, cerebrovascular attack; IHD, ischemic heart disease; MI, myocardial infarct; renal bx, renal biopsy; Tx, transplantation; CKD, chronic kidney disease; and –, nonapplicable because the patient was diagnosed at the presymptomatic stage during family screen.

Patient no. 2, who presented initially with hypertension and proteinuria, is the only AFib patient reported to date with amyloid-related liver failure and she received LKT for the indication of both liver and kidney failure. She was anuric and on hemodialysis and creatinine clearance 0 mL/s/m² at assessment for LKT.²⁶  Patient no. 3 had liver amyloid deposits with normal function.

Patient no. 9 had a strong family history of IHD and aortic aneurysms including mother, maternal uncle, and grandmother, none of whom had renal disease. Computed tomography scan excluded aortic aneurysms in the patient before LKT. On subsequent family screen, a maternal aunt was diagnosed as heterozygous for the E526V variant, thus suggesting the just-mentioned family members as obligatory carriers.

Patient no. 16 had no family history of renal disease; his father had IHD and died in his late 50s of cerebrovascular attack. Patient had extensive carotid, systemic, and coronary disease at age 55 years. His sister was diagnosed with IHD requiring bypass graft in her early 40s with normal renal function. She was identified as carrier of the AFib E526V variant during subsequent family screen, and has during follow-up developed renal amyloid and ESRF at age 53 years. Two further siblings are noncarriers and remain free of cardiac events at ages 48 to 60 years.

Patient nos. 20 and 21 are related and both have paternal history of renal amyloidosis. Patient no. 20 presented with IHD and acute MI at age 52 years with normal kidney function; he noticed foaming urine and was tested positive for trace proteinuria 7 years later, whereas GFR was 102 mL/min and blood pressure, normal. Nephrotic range proteinuria was documented 2 years later; renal biopsy revealed amyloid. Patient no. 21 presented with MI and normal renal function, as did a further sibling, requiring angioplasty/stenting for IHD 5 years earlier. Patient no. 21 is at stage 3 CKD; sibling is a carrier and was recently diagnosed with nonnephrotic range proteinuria and GFR 105 mL/min. A further 2 members of the same kindred have long-standing IHD and amyloid nephropathy; noncarrier siblings have no history of IHD.