CardiomyopathyUsefulness of Combining Electrocardiographic and Echocardiographic Findings and Brain Natriuretic Peptide in Early Detection of Cardiac Amyloidosis in Subjects With Transthyretin Gene Mutation
Section snippets
Methods
We have included 36 consecutive patients with TTR-FAP belonging to 7 unrelated families. The study was approved by our institutional review committee. Informed consent was obtained from all patients.
Diagnosis was based on genetic testing for TTR-FAP: the Glu89Gln mutation was detected in 20 patients, the Phe64Leu mutation was detected in 12 patients, and the Thr49Ala mutation was detected in 4 patients. None of the included patients had evidence of monoclonal protein in the serum or urine, a
Results
Whole-body scan and SPECT revealed 99mTc-DPD accumulation (CA group) in 18 of 35 patients (51%) and no cardiac radiotracer accumulation (no CA group) in the remaining 17 patients (49%). In the CA group, cardiac 99mTc-DPD accumulation was graded as follows: grade 1, n = 6; grade 2, n = 8; grade 3, n = 4.
The age of patients in the CA group (52 ± 11 years) and no CA group (49 ± 14 years) was similar (p = 0.51). A higher prevalence of male sex (68% vs 6%, p <0.001) and somatic polyneuropathy (84%
Discussion
The main result of the present study is that an integrated approach consisting of ECG and echocardiography significantly increases sensitivity in diagnosing CA at an early stage in patients with FAP. In particular, we showed that the association between resting ECG abnormalities, consisting mainly of poor R-wave progression, pseudonecrosis, ST-T abnormalities, LBBB, low QRS voltage, and septal LV thickness (cut-off value 14 mm) on echocardiography was the most sensitive combination for the
Acknowledgments
The authors gratefully acknowledge Jennifer Pfaff, BA of Aurora Cardiovascular Services, Aurora St. Luke's Medical Center, for editorial preparation of the manuscript and Brian Miller and Brian Schurrer of Aurora Sinai Medical Center for help with the figures.
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