Transthyretin Ile 122 and cardiac amyloidosis in African-Americans. 2 case reports.
Two cases of cardiac amyloidosis resulting from deposition of the Ile 122 variant of transthyretin in African-Americans are presented. These cases illustrate several typical features of this disorder, including electrocardiographic abnormalities and digoxin toxicity. Transthyretin Ile 122 is a common amyloidogenic variant in African-Americans (present as a heterozygous variant in 4% of this population); therefore, the diagnosis of transthyretin Ile 122 cardiac amyloidosis should be considered in African-Americans with unexplained restrictive cardiomyopathy or arrhythmias.
Jacobson
D R
DR
Department of Medicine, New York University Medical Center, New York, USA.
Ittmann
M
M
Buxbaum
J N
JN
Wieczorek
R
R
Gorevic
P D
PD
D000368:Aged; D000369:Aged, 80 and over; D000483:Alleles; D000686:Amyloidosis / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D044383:Black People / Q000235:genetics*; D009202:Cardiomyopathies / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D004562:Electrocardiography; D017809:Fatal Outcome; D014644:Genetic Variation; D006801:Humans; D008297:Male; D009206:Myocardium / Q000473:pathology; D017354:Point Mutation; D011228:Prealbumin / Q000235:genetics*; D001741:Black or African American
D011228:Prealbumin