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BACKGROUND: Fabry disease (FD) is a rare lysosomal storage disease, caused by mutations in the gene encoding the enzyme α-galactosidase A (α-Gal A). Cardiac involvement is one of the main causes of death and it is characterized by progressive concentric left ventricular hypertrophy (LVH), which in most cases is symmetric. Mild thickening of the left-sided valves is seen in as many as a quarter of patients. Severe aortic stenosis is an extremely rare disorder in FD. CASE SUMMARY: In this report, we describe the case of a 57-year-old male, who was diagnosed with a cardiac variant of FD 10 years ago. Since the patient had severe LVH, he was started on enzyme replacement therapy when he was 47 years old with an intravenous infusion of 0.2 mg/kg of agalsidase alpha every 14 days. The patient remained stable and asymptomatic for 9 years, until he presented with dyspnoea in New York Heart Association functional class II-III and severe aortic stenosis (aortic valve area: 0.97 cm2) together with severe systolic dysfunction [ejection fraction (EF): 29%]. Because of the patient's comorbidities and high surgical risk, he underwent successful transfemoral transcatheter aortic valve implantation (TAVI). At 2 months following TAVI, the patient was asymptomatic and, in spite of his Fabry cardiomyopathy, the EF had increased to 45%. DISCUSSION: To our knowledge, this is the first case in the literature to demonstrate a rapid progression of aortic stenosis with severe impairment of left ventricular function and worsening in functional class in a patient with FD, who following TAVI improved his EF, with disappearance of symptoms and ventricular arrhythmias.
RESUMO
OBJECTIVE: We sought to compare the new transcatheter aortic valve replacement (TAVR) device ACURATE neo (ACT) with the already established CoreValve (MCV) and SAPIEN XT (SXT) for the treatment of severe aortic stenosis (AS). BACKGROUND: Very few data on TAVR devices are available beyond MCV and SAPIEN and there is no previous study comparing ACT with MCV and SXT. METHODS: We prospectively evaluated consecutive patients who underwent transfemoral TAVR for the treatment of severe AS. Clinical outcomes were reported following Valve Academic Research Consortium 2 (VARC-2) criteria. RESULTS: A total of 162 patients (ACT n = 49, MCV n = 56, SXT n = 57), were included. MCV group had higher valve embolization/migration rates (ACT none; MCV 9%; SXT 2%; P = 0.034) causing lower device success rates (ACT 98%; MCV 86%; SXT 95%; P = 0.043). At 30 days, there was no significant difference in all-cause mortality (P = 0.22), cardiovascular mortality (P = 0.20), periprocedural myocardial infarction (P = 0.40), stroke (P = 0.64), major vascular complications (P = 0.48), life-threatening bleeding (P = 0.29), acute kidney injury stage 2/3 (P = 0.69), or VARC-2 composite early safety endpoints (P = 0.21). MCV group had higher rates of new permanent pacemaker implantation (ACT 6%; MCV 25%; SXT 11%; P = 0.013). Follow-up echocardiography showed no significant difference in aortic valve mean pressure gradient (P = 0.73) or moderate/severe aortic regurgitation (P = 0.19) between groups. CONCLUSIONS: In a "real world" registry, ACT compared favorably against the well-studied SXT and MCV devices in both safety and efficacy. MCV implantation was associated with lower device success rates and higher rates of new permanent pacemaker implantation. © 2016 Wiley Periodicals, Inc.