Global longitudinal strain and quantitative sensory testing in pre-symptomatic patients with mutation for transthyretin amyloidosis

Abstract Background Hereditary transthyretin (ATTRv) amyloidosis is a rare, autosomal dominant, and devastating disease. If untreated, the disease fatal within 4–15 years from onset. Thus, diagnosis in early stages of ATTRv crucial to start treatment prevent or delay progression. However, symptomatic TTR gene mutation carriers may be challenging. Purpose We aimed identifying indexes cardiac and/or neurological involvement pre-symptomatic subjects (carriers) harboring mutation. Methods Eight TTR-mutation (mean age 51±9 years, 5 males) constituted study populations. Mutations identified were: Val30Met 4, Phe64Leu remaining 4 patients. Patients underwent tactile thermal quantitative sensory testing (QST), 99mTc-labeled bisphosphonate (HMDP) scintigraphy with evaluation Perugini score, comprehensive echocardiogram global longitudinal strain (GLS). Results Table 1 reports results overall PADO indicates predicted MWT maximal wall thickness at echocardiography. There was strong inverse correlation between °C degree HPT GLS (r=−0.790; p=0.02, demonstrating that worse corresponded better (Figure 1). Conclusion QST findings support an heart small nerve fibers even many before PADO. Interestingly, impairment seems not parallel fibers. An inhomogeneous accumulation fibrils, as well possible different pathophysiological mechanisms fibers, might result variable organ least earliest stage Our observation needs tested wider population such rare Funding Acknowledgement Type funding sources: None.