Abstract
Two cases of cardiac amyloidosis resulting from deposition of the lie 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 IIe 122 is a common amyloidogenic variant in African-Americans (present as a heterozygous variant in 4% of this population); therefore, the diagnosis of transthyretin IIe 122 cardiac amyloidosis should be considered in African- Americans with unexplained restrictive cardiomyopathy or arrhythmias.
| Original language | English |
|---|---|
| Pages (from-to) | 45-52 |
| Number of pages | 8 |
| Journal | Texas Heart Institute Journal |
| Volume | 24 |
| Issue number | 1 |
| State | Published - 1997 |
| Externally published | Yes |
Keywords
- African- Americans/genetics
- amyloidosis/diagnosis
- amyloidosis/ethnology
- amyloidosis/ge netics
- congestive
- heart conduction system/physiopathology
- heart diseases/etiology
- heart failure
- isoleucine/genetics; prealbumin/transthyretin
- variation (genetics)