Key result
Autonomic testing and 123I-MIBG scintigraphy characterize autonomic dysfunction in non-Val30Met ATTRv amyloidosis.
Case Report (n=4)
No quantitative results from 4 patients preclude practice change; leaves open the role of autonomic testing and MIBG scintigraphy in non-Val30Met ATTRv amyloidosis.
We examined four patients with ATTRv amyloidosis with non-Val30Met mutation (Pro24Ser, Val71Ala, Thr60Ala and Tyr114Cys) [7]. The coefficient of variation of Rion (Pro24Ser, Val71Ala, Thr60Ala60AlaeValsalva maneuver, head-up tilt test with impedance cardiography, noradrenaline infusion test, and (123) I-metaiodobenzylguanidine (MIBG) myocardial scintigraphy were assessed [7,8]. A sural nerve biopsy was performed in two patients as described previously (Pro24Ser and Val71Ala), in parallel with the autonomic tests [2,6].
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Koike et al. (2019) conducted a case report in Hereditary transthyretin (ATTRv) amyloidosis with non-Val30Met mutation (n=4). Autonomic function testing and sural nerve biopsy was evaluated on Cardiac and peripheral vasomotor autonomic functions (Valsalva maneuver, head-up tilt test, noradrenaline infusion test, and 123I-MIBG myocardial scintigraphy). Autonomic function testing and 123I-MIBG scintigraphy were evaluated in 4 patients with non-Val30Met ATTRv amyloidosis (2 also underwent sural nerve biopsy), with no quantitative results reported.
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