Screening of Fabry disease in patients with an implanted permanent pacemaker.

BACKGROUND: Anderson-Fabry disease (AFD) is an X-linked inherited lysosomal disease caused by a defect in the gene encoding lysosomal enzyme α-galactosidase A (GLA). Atrio-ventricular (AV) nodal conduction defects and sinus node dysfunction are common complications of the disease. It is not fully elucidated how frequently AFD is responsible for acquired AV block or sinus node dysfunction and if some AFD patients could manifest primarily with spontaneous bradycardia in general population. The purpose of study was to evaluate the prevalence of AFD in male patients with implanted permanent pacemaker (PM). METHODS: The prospective multicentric screening in consecutive male patients between 35 and 65 years with implanted PM for acquired third- or second- degree type 2 AV block or symptomatic second- degree type 1 AV block or sinus node dysfunction was performed. RESULTS: A total of 484 patients (mean age 54 ± 12 years at time of PM implantation) were enrolled to the screening in 12 local sites in Czech Republic. Out of all patients, negative result was found in 481 (99%) subjects. In 3 cases, a GLA variant was found, classified as benign: p.Asp313Tyr, p.D313Y). Pathogenic GLA variants (classical or non-classical form) or variants of unclear significance were not detected. CONCLUSION: The prevalence of pathogenic variants causing AFD in a general population sample with implanted permanent PM for AV conduction defects or sinus node dysfunction seems to be low. Our findings do not advocate a routine screening for AFD in all adult males with clinically significant bradycardia.

Long-term health outcome and mortality evaluation after invasive coronary treatment using drug eluting stents with or without the IVUS guidance. Randomized control trial. HOME DES IVUS.

OBJECTIVE: To assess the role of the intravascular ultrasound (IVUS) during implantation of drug-eluting stents (DES) on long-term outcome in patients with complex coronary artery disease and high clinical risk profile with special attention to the development of late stent thrombosis (LST). METHODS: Two hundred and ten patients were randomly assigned to receive DES either with (N = 105) or without (N = 105) the IVUS guidance. Dual antiplatelet treatment was administered for 6 months in all patients. At 18-month follow-up, the rates of major adverse cardiac events (MACEs) (death, myocardial infarction, and reintervention) were assessed in both groups with special attention to possible LST. Stent thrombosis was classified according to Academic Research Consortium (ARC). RESULTS: At the 18-month follow-up, there was no significant difference between both groups regarding MACE (11% vs. 12%; P = NS). Stent thrombosis has occurred in four patients (3.8%) in the group with and in 6 patients (5.7%; P = NS) in the group without the IVUS guidance. CONCLUSIONS: In our randomized trial we failed to demonstrate the superiority of the IVUS guidance during DES implantation over standard high-pressure postdilatation. However we confirmed worrisome results concerning DES thrombosis after discontinuation of dual antiplatelet-treatment with documented stent thrombosis related events in almost 5% of patients with 50% of mortality in this high-risk clinical scenario.

Long-term health outcome and mortality evaluation after invasive coronary treatment using drug-eluting stents: HOME DES registry.

AIM: To assess the occurrence of late clinical events after the discontinuation of dual antiplatelet treatment in patients with drug-eluting stent implantation, complex coronary artery disease and high clinical risk profile. METHODS: Between January 2004 and December 2005, 2080 patients underwent percutaneous coronary intervention, including 276 patients (13%) who were treated with drug-eluting stents. At the 6-month follow-up, 273 patients remained event-free and of these, 171 completed the 12-month and 18-month follow-ups and have been enrolled in the analysis. Dual antiplatelet treatment was administered for 6 months in all patients. RESULTS: At the 18-month follow-up, stent thrombosis had occurred in 10 patients (5.8%), resulting in five sudden deaths and five target-vessel nonfatal myocardial infarctions. The majority (80%) of the events had developed within 7-12 months. The larger stent area and left main interventions were significantly associated with stent thrombosis (P=0.031 and P=0.001, respectively). CONCLUSIONS: Our study confirmed worrisome results concerning drug-eluting stent thrombosis after the discontinuation of dual antiplatelet treatment. The rate of stent thrombosis-related events in our high-risk cohort of patients reached almost 6% with a 50% mortality. The majority (80%) of the events occurred within the months 7-12.