PurposePlasma globotriaosylsphingosine (lyso-Gb3) is a promising secondary screening biomarker for Fabry disease. Here, we examined its applicability as a primary screening biomarker for classic and late-onset Fabry disease in males and females.MethodsBetween 1 July 2014 and 31 December 2015, we screened 2,360 patients (1,324 males) referred from 169 Japanese specialty clinics (cardiology, nephrology, neurology, and pediatrics), based on clinical symptoms suggestive of Fabry disease. We used the plasma lyso-Gb3 concentration, α-galactosidase A (α-Gal A) activity, and analysis of the α-Gal A gene (GLA) for primary and secondary screens, respectively.ResultsOf 8 males with elevated lyso-Gb3 levels (≥2.0 ng ml) and low α-Gal A activity (≤4.0 nmol h ml), 7 presented a GLA mutation (2 classic and 5 late-onset). Of 15 females with elevated lyso-Gb3, 7 displayed low α-Gal A activity (5 with GLA mutations; 4 classic and 1 late-onset) and 8 exhibited normal α-Gal A activity (1 with a classic GLA mutation and 3 with genetic variants of uncertain significance).ConclusionPlasma lyso-Gb3 is a potential primary screening biomarker for classic and late-onset Fabry disease probands.Genet Med advance online publication, 15 March 2018; doi:10.1038/gim.2018.31.

Introduction: Phrenic nerve (PN) injury is a well-known complication of cryoballoon ablation (CBA) for pulmonary vein (PV) isolation in patients with atrial fibrillation.However, it is still insufficient to practically predict phrenic nerve injury (PNI) before freezing. We hypothesized that phrenic nerve capture (PNC) with phrenic nerve orifice pacing (PVOP) might be a surrogate sign of the close proximity of the PN, and that might predict PNI and changes in the compound motor action potential (CMAP) amplitude.Methods: Seventy patients (60 ± 12 years, male 80%, paroxysmal 56%) underwent PVOP with a 20-electrode ring catheter before the CBA. The clinical outcome was the occurrence of transient and persistent PNI. In addition, the PV position and pacing threshold during PNC with PVOP, and changes in the CMAP amplitude were recorded. We compared these measurements between patients with and without PNC (PNC/non-PNC group) with PVOP.Results: PNC with PVOP occurred in 39 (56%) patients and was localized only to the right superior PV. Transient PNI occurred in seven (10%) patients and permanent in none. The CMAP amplitude decreased significantly more in the PNC group (PNC 33% vs non-PNC 16%, P = .027). PNC group had a higher risk of the composite outcome of transient PNI or ≥30% decrease in the CMAP amplitude (PNC 54% vs non-PNC 13%; P < .001). Conclusions: This PVOP technique could be feasible and contribute to predicting transient PNI and CMAP amplitude reductions before cryoapplications. Further studies are necessary to elucidate the additional efficacy of PVOP over CMAP monitoring alone. K E Y W O R D S atrial fibrillation, compound motor action potential, cryoballoon, phrenic nerve injury, pulmonary vein orifice pacing

Spontaneous coronary artery dissection (SCAD) is rare, but it frequently presents as acute myocardial infarction. It is frequently fatal and most cases are diagnosed at autopsy. We herein present the case of a 65-year-old woman with ST-elevation and myocardial infarction due to SCAD. Optical coherence tomography (OCT) helped us to confirm the diagnosis. The information on the intravascular morphology provided by OCT imaging is much more detailed in comparison to that provided by coronary angiography (CAG) and intravascular ultrasound (IVUS).

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In the above article, we noticed that one female patient in the positive group (plasma lyso-Gb3 7.6 ng/ml, α-galactosidase A activity 4.9 nmol/h/ml) who presented at the neurology clinic was already diagnosed with Fabry disease before the current study. We excluded patients with a confirmed diagnosis of Fabry disease and those with relatives known to have Fabry disease. To accurately describe the information in the current study, we must exclude this patient from the analysis. We have accurately revised this information as follows.