Transcatheter Tricuspid Valve Replacement for Anderson Fabry Disease With Severe Tricuspid Regurgitation.

Transcatheter Tricuspid Valve Replacement for Anderson Fabry Disease With Severe Tricuspid Regurgitation Guang-Wei Zhou, MD, Fan Yang, MD, Fan Qiao, MD, PhD, Zhi-Gang Song, MD, PhD, Lin Han, MD, PhD, Fang-Lin Lu, MD, PhD, and Zhi-Yun Xu, MD, PhD, Shanghai, People’s Republic of China INTRODUCTION Anderson Fabry disease (AFD) is an X-linked recessive metabolic disorder characterized by deficient activity of the lysosomal hydrolase, a-galactosidase A. Clinical manifestations of AFD are diverse and vary greatly depending on age and gender. These can be multiorgan involving the kidney, brain, heart, eye, and skin, and hence the diagnosis of AFD may be missed.1 Treatment depends on early recognition of the disease and timely institution of enzyme replacement therapy (ERT).2 A severe form of valvular regurgitation that would require surgical correction is relatively rare in AFD. The patient in this report had been followed for many years for renal dysfunction, mitral regurgitation, and hypertrophic cardiomyopathy (HCM), but AFD was not recognized until recently. Our patient had severe tricuspid regurgitation (TR) and implanted transcatheter tricuspid valve replacement (TTVR) and accepted ERT for further treatment. In this report, we described echocardiographic imaging and clinical observations to further understand AFD, help avoid misdiagnosis, and provide evidence for its clinical treatment and prognosis. CASE PRESENTATION A 54-year-old man was admitted with bilateral lower extremity edema and abdominal distension that persisted over a year but worsened within the last 3 months. The patient had a history of cardiac pacemaker implantation, renal replacement, and mitral valve replacement (MVR), which were performed in 2006, 2009, and 2015, respectively. They denied any family history of cardiovascular or kidney disease. After being admitted, physical examination showed blood pressure of 112/70 mm Hg, heart rate of 60 bpm, and body surface area of 1.4 m2. On auscultation, there was a diastolic murmur over the right lower sternal border. A blood test showed high level of creatinine, 159 mmol/L; glomerular filtration rate, 27.9 mL/min; trioxypurine 724, mmol/L; N-terminal b-type natriuretic peptide precur- From the Department of Cardiovascular Surgery, Changhai Hospital, Naval Military Medical University, Shanghai, People’s Republic of China. Keywords: Anderson Fabry disease, Tricuspid regurgitation, Transcatheter tricuspid valve replacement Correspondence: Dr. Fang-Lin Lu, MD, PhD, Department of Cardiovascular Surgery, Changhai Hospital, Naval Military Medical University, Shanghai 200433, People’s Republic of China. (E-mail: ). Copyright 2022 by the American Society of Echocardiography. Published by Elsevier Inc. This is an open access article under the CC BY-NC-ND license (http:// creativecommons.org/licenses/by-nc-nd/4.0/). 2468-6441 https://doi.org/10.1016/j.case.2022.10.008 sor, 6,050 pg/mL, B-type natriuretic peptide, 1,491.38 pg/mL, and international standardized ratio of prothrombin time, 2.0. The transthoracic echocardiogram (TTE), which was performed 1 day after the patient was admitted to our hospital, revealed markedly increased wall thickness of the left (LV) and right ventricular (RV) myocardium (interventricular septum, 2.3 cm; post wall, 1.7 cm; RV free wall, 1.3 cm), enlargement of the left and right atrium (left atrial [LA] volume index [LAVi], 69.2 mL/m2; right atrial [RA] volume index, 51.4 mL/m2), LV ejection fraction (LVEF) of 67%, RV fractional area change of 55%, mild increased pulmonary artery systolic pressure (37 mm Hg), and normally functioning mechanical mitral valve (mean transvalvular gradient, 6.0 mm Hg); transesophageal echocardiography (TEE) showed severe TR with vena contracta (VC) of 0.7 cm (Figure 1, Videos 1 and 2). An electrocardiogram revealed atrial fibrillation and ventricularly paced rhythm. Chest radiography showed postoperative MVR, cardiomegaly, and dual-chamber pacemaker implantation (Figure 2). An overall evaluation showed that the Society of Thoracic Surgeons score was 8.07%, clinic risk score was 7, Kansas City Cardiomyopathy Questionnaire (KCCQ) score was 58.33, and 6-minute walking distance (6MWD) was 308 m. The patient was informed that due to their surgical risk, they were not eligible to undergo a second thoracotomy but met the inclusion criteria for interventional tricuspid valve surgery for severe TR (VC $ 0.7 cm), as their LV systolic function was normal (LVEF $ 50%), the pulmonary artery systolic pressure was #55%, and there was no coexistent severe valve dysfunction. After obtaining consent, TTVR was performed. LuX-Valve is a novel TTVR system that consists of the following 4 components: (1) a trileaflet prosthetic valve with bovine pericardium; (2) a self-expandable nitinol valve stent consisting of an atrial disc; (3) 1 interventricular septal anchor ‘‘tongue’’; and (4) 2 expanded polytetrafluoroethylene-covered graspers (Figure 3A). It can be delivered via a 32-F catheter (Figure 3B and C) through a minimally invasive right thoracotomy under anesthesia without cardiopulmonary bypass using TEE and fluoroscopy guidance (Figure 3D and E). The total procedure went smoothly. The TEE showed that the position and function of the implanted valve prosthesis were normal, while color Doppler showed no obvious valve regurgitation or paravalvular leakage (Figure 4, Videos 3 and 4). Right ventricular angiography was not performed because of a history of kidney transplantation and unilateral renal insufficiency on admission. The patient’s symptoms improved to mild exertional dyspnea (New York Heart Association functional class I), the edema disappeared in both legs, and there were no TTVR-related complications. Compared to pre-TTVR, TTE showed that TR disappeared, the LAVi increased (82.1 vs 69.2 mL/m2), RA volume index decreased (42.8 vs 51.4 mL/m2) before discharge, and TV mean gradient was improved (2.5 vs 1.3 mm Hg). 39 40 Zhou et al VIDEO HIGHLIGHTS Video 1: Two-dimensional TTE, apical 4-chamber view, demonstrates severe biventricular myocardial wall thickness with normal systolic function. Also noted is a mechanical MVR and pacemaker wire. Video 2: Two-dimensional TTE, parasternal short-axis midventricular display, demonstrates severe biventricular myocardial wall thickness and normal global LV systolic function. Video 3: Two-dimensional TEE with color Doppler, midesophageal window, biplane (0 and 90 ) display demonstrates dilated right atrium with severe TR. Video 4: Two-dimensional TEE with color Doppler, multiplanar view (0 /60 /120 ) demonstrates no significant valvular or paravalvular TR after TTVR implantation. Video 5: Two-dimensional TTE, apical 4-chamber view demonstrates progressive thickening of the biventricular myocardial walls, reduction in right heart dimensions, and further dilatation of the left atrium 1 year following the TTVR compared with baseline. Video 6: Two-dimensional TTE, parasternal short- (...truncated)