Author + information
- Nowell Mark Fine,
- Adelaide Olson,
- Steven Zeldenrust,
- Fletcher Miller,
- Suzette Bielinski,
- Kyle Klarich,
- Angela Dispenzieri,
- Christopher Scott and
- Martha Grogan
Subcutaneous fat aspirate for detection of systemic amyloidosis is a well-established screening method for immunoglobulin light-chain amyloidosis (AL) and may make cardiac biopsy unnecessary if typical echocardiographic findings are present. At our institution this method has sensitivity of approximately 70% and specificity of 99% in AL patients. Cardiac involvement in mutant transthyretin (TTR-m) systemic amyloidosis is frequent and associated with high morbidity and mortality. Cardiac amyloidosis due to wild-type transthyretin (TTR-w) has also been described. Sensitivity of fat aspirate biopsy for detection of systemic amyloidosis in setting of cardiac biopsy-proven TTR-m and TTR-w is unknown.
Subjects (n=124) were identified by retrospective review of the medical record at our institution. Inclusion required cardiac biopsy-proven TTR amyloidosis, TTR genotyping and echocardiography. Subjects were grouped as either TTR-m or TTR-w by genotyping for comparison. Data summarized as mean±standard deviation for continuous variables or proportions for categorical variables with comparison by chi-square or two-sample t-test.
47 subjects with TTR-m and 77 with TTR-w were identified. Subjects with TTR-w were older at presentation (p <0.001). All subjects had typical echocardiographic findings of cardiac amyloidosis. However, TTR-m subjects had echocardiographic evidence of more advanced disease with worse ejection fraction (p=0.007), and greater septal thickness (p=0.04) and left ventricular mass index (p=0.01). 28 subjects with TTR-m and 53 with TTR-w underwent fat aspirate biopsy. Subcutaneous fat aspirate was positive in only 15 (54%) of TTR-m and 11 (21%) of TTR-w patients
Positive subcutaneous fat aspirate for detection of systemic amyloidosis due to TTR (TTR-m or TTR-w) may make cardiac biopsy unnecessary in some patients with typical echocardiographic features of cardiac amyloidosis. However, the low rate of positivity, particularly in patients with TTR-w, still requires cardiac biopsy in many patients.
Poster Sessions, Expo North
Saturday, March 09, 2013, 10:00 a.m.-10:45 a.m.
Session Title: Dilated Cardiomyopathies: From Peripartum, Cancer Therapy, Familial Cardiomyopathies to Cardiac Amyloidosis
Abstract Category: 15. Heart Failure: Clinical
Presentation Number: 1134-287
- 2013 American College of Cardiology Foundation