TY - JOUR
T1 - Cardiomyopathy correlates to nerve damage in p.A117S late-onset transthyretin amyloid polyneuropathy
AU - Lin, Yen Hung
AU - Hsueh, Hsueh Wen
AU - Su, Mao Yuan
AU - Cheng, Mei Fang
AU - Chiang, Ming Chang
AU - Juang, Jyh Ming Jimmy
AU - Kao, Yi Hui
AU - Chang, Kai Chieh
AU - Feng, Fang Ping
AU - Hsieh, Sung Tsang
AU - Chao, Chi Chao
N1 - Publisher Copyright:
© 2022 The Authors. Annals of Clinical and Translational Neurology published by Wiley Periodicals LLC on behalf of American Neurological Association.
PY - 2022/9
Y1 - 2022/9
N2 - Objective: Late-onset hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) is often associated with heart involvement. Recent advances in cardiac imaging allow the detection of cardiac amyloidosis. This study aimed to explore cardiomyopathy by cardiac imaging and its clinical correlates with polyneuropathy in late-onset ATTRv-PN. Methods: Polyneuropathy was assessed by intraepidermal nerve fiber (IENF) density, nerve conduction study (NCS), autonomic function tests, quantitative sensory testing, and clinical questionnaires. Cardiomyopathy was evaluated by echocardiography, 99mTc-pyrophosphate (PYP) single-photon emission computed tomography (SPECT) imaging, cardiac magnetic resonance imaging (CMR), and serum Pro-B-type natriuretic peptide. Healthy controls and patients with Brugada syndrome were enrolled for comparison of CMR. Results: Fifty late-onset ATTRv-PN patients (38 men, 46 with p. A117S mutation), aged 63.7 ± 5.5 years, of polyneuropathy disability stage 1–4 were enrolled. All patients presented polyneuropathy in NCS, and 74.5% of patients had reduced IENF density in distal legs. All patients showed significant radiotracer uptake in the heart on 99mTc-PYP SPECT imaging, and 87.8% of patients had abnormally increased left ventricular (LV) septum thickness on echocardiography. CMR showed longer myocardial native T1, larger extracellular volume, greater LV mass index, and higher LV mass to end-diastolic volume ratio in ATTRv-PN patients than healthy controls and patients with Brugada syndrome. These CMR parameters were associated with skin denervation, absent sympathetic skin responses, elevated thermal thresholds, worsened NCS profiles, and functional deficits of polyneuropathy. Interpretation: Late-onset ATTRv-PN coexisted with cardiomyopathy regardless of the clinical severity of polyneuropathy. The cardiac amyloid burden revealed by CMR was correlated with pathophysiology and clinical disability of nerve degeneration.
AB - Objective: Late-onset hereditary transthyretin amyloidosis with polyneuropathy (ATTRv-PN) is often associated with heart involvement. Recent advances in cardiac imaging allow the detection of cardiac amyloidosis. This study aimed to explore cardiomyopathy by cardiac imaging and its clinical correlates with polyneuropathy in late-onset ATTRv-PN. Methods: Polyneuropathy was assessed by intraepidermal nerve fiber (IENF) density, nerve conduction study (NCS), autonomic function tests, quantitative sensory testing, and clinical questionnaires. Cardiomyopathy was evaluated by echocardiography, 99mTc-pyrophosphate (PYP) single-photon emission computed tomography (SPECT) imaging, cardiac magnetic resonance imaging (CMR), and serum Pro-B-type natriuretic peptide. Healthy controls and patients with Brugada syndrome were enrolled for comparison of CMR. Results: Fifty late-onset ATTRv-PN patients (38 men, 46 with p. A117S mutation), aged 63.7 ± 5.5 years, of polyneuropathy disability stage 1–4 were enrolled. All patients presented polyneuropathy in NCS, and 74.5% of patients had reduced IENF density in distal legs. All patients showed significant radiotracer uptake in the heart on 99mTc-PYP SPECT imaging, and 87.8% of patients had abnormally increased left ventricular (LV) septum thickness on echocardiography. CMR showed longer myocardial native T1, larger extracellular volume, greater LV mass index, and higher LV mass to end-diastolic volume ratio in ATTRv-PN patients than healthy controls and patients with Brugada syndrome. These CMR parameters were associated with skin denervation, absent sympathetic skin responses, elevated thermal thresholds, worsened NCS profiles, and functional deficits of polyneuropathy. Interpretation: Late-onset ATTRv-PN coexisted with cardiomyopathy regardless of the clinical severity of polyneuropathy. The cardiac amyloid burden revealed by CMR was correlated with pathophysiology and clinical disability of nerve degeneration.
UR - http://www.scopus.com/inward/record.url?scp=85135813842&partnerID=8YFLogxK
U2 - 10.1002/acn3.51635
DO - 10.1002/acn3.51635
M3 - Article
C2 - 35945697
AN - SCOPUS:85135813842
SN - 2328-9503
VL - 9
SP - 1359
EP - 1369
JO - Annals of Clinical and Translational Neurology
JF - Annals of Clinical and Translational Neurology
IS - 9
ER -