PMC9871382_01
(A) Parasternal long-axis view shows severe LV hypertrophy (white arrow points to the interventricular septum measuring 2.3 cm; red arrow points to the inferolateral wall measuring 2.0 cm). (B) Right ventricular focused view shows RV hypertrophy (white arrow points to the RV free wall measuring 1.3 cm). (C) Tissue Doppler of the free wall at the tricuspid annular level demonstrates abnormal annular velocity: RV peak systolic velocity of the tricuspid annulus (white arrow) = 8 cm/sec. (D) Severe TR showing a VC (white line) = 0.8 cm.
gr1.jpg
PMC9871382_01_gr1.jpg
fig1
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). Meanwhile, tissue Doppler recording of the RV free wall at the tricuspid annular level showed abnormal systolic annular velocity (Figure 1C, white arrow: RV peak systolic velocity of the tricuspid annulus = 8 cm/sec), which was slightly lower than the normal reference (>9.5 cm/sec).
(A) A 12-lead electrocardiogram showed atrial fibrillation with a paced rhythm with a heart rate of 60 bpm. (B) Chest radiography revealed MVR, cardiomegaly, and a dual-chamber pacemaker implantation.
gr2.jpg
PMC9871382_01_gr2.jpg
fig2
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). Chest radiography showed postoperative MVR, cardiomegaly, and dual-chamber pacemaker implantation (Figure 2).
LuX-Valve is a radial force-independent orthotopic TTVR device for severe TR. (A) The LuX-Valve consists of an interventricular septal anchor (a), 2 graspers (b), and a valve disk (c). (B and C) General view of the delivery catheter. (D) Three-dimensional TEE TTVR en face view shows the device was deployed in targeted position. (E) Right ventricular angiography showed TR significantly improved from baseline (left panel) compared with after TTVR (right panel). Panels A-C are reprinted from Lu et al with permission of Elsevier; panels D-E are reprinted from Lu et al with permission from BMJ Publishing Group Ltd.
gr3.jpg
PMC9871382_01_gr3.jpg
fig3
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 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).
LuX-Valve Implantation. (A) Midesophageal biplane views showing severe TR (white line: VC = 0.8 cm). (B) Midesophageal biplane view and three-dimensional en face view shows the system implantation (green arrow: interatrial septum; white arrow: pacemaker electrode; yellow arrow: catheter sheath, red circle: the edge of atrial disk). Pacemaker electrode was located at the junction of the posterior valve and septal valve, under the edge of the atrial disk, and had no effect on pacemaker function. (C) Pulsed-wave Doppler showed the postoperative tricuspid transvalvular mean gradient was 1.43 mm Hg. (D) The transthoracic RV focused view of the percutaneous tricuspid valve was seen without paravalvular leakage visualized.
gr4.jpg
PMC9871382_01_gr4.jpg
fig4
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).
Automated sequencing profile of genomic DNA revealed a heterozygote alpha-galactosidase A mutation at chrX:100653895.
gr5.jpg
PMC9871382_01_gr5.jpg
fig5
The results revealed a heterozygote alpha-galactosidase mutation at chrX: 100653895 [c.679 C>T(p.R227X)] (Figure 5). The detection result of deacetyl GL-3 (Lyso-GL-3) was 87.73 ng/mL (reference value < 1.11 ng/mL).
Biventricular involvement prior to ERT. (A) Left ventricular global LS, (B) CS, and (C) RV global GS and free wall strain (FWS) and tricuspid annular plane systolic excursion (TAPSE) demonstrated abnormal strain imaging.
gr6.jpg
PMC9871382_01_gr6.jpg
fig6
Although LVEF (70% vs 67%) and RV fractional area change (63% vs 55%) remained normal and stable, comprehensive, multichamber two-dimensional speckle-tracking echocardiography (STE) showed the following: LA reservoir function (peak positive strain) of 8% (vs 6%); LA conduit function (early diastolic strain) of -8% (vs -7%); RA reservoir function (peak positive strain) of 5% (vs 8%); RA conduit function (early diastolic strain) of -8% (vs -7%); RV global longitudinal strain (LS) of -8.8% (vs -8.8%), RV free-wall strain of -11.8% (vs -12.9%), LV global LS of -9.4% (vs -8.9%), and circumferential strain (CS) of -12.1% (vs -14.5%; Figure 6).
A graph showing the change in 6MWD (A) and KCCQ score (B) over 1 year. A brief decline was seen 1 month after TTVR, followed by an improvement thereafter.
gr7.jpg
PMC9871382_01_gr7.jpg
fig7
TTVR (326 vs 308 m; 81.67 vs 58.33, respectively), especially the latter one (Figure 7). The patient started to take ERT in January 2022: beta-Galrch (FABRAZYME) 45 mg four times a day by venous channel as the routine method to cure AFD.