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Fabry disease is an important secondary cardiomyopathy characterized by the accumulation of glycosphingolipids due to a pathogenic mutation in the GLA gene. Lethal ventricular arrhythmia is the most common cause of sudden death in patients with Fabry disease. We herein report a case of a man in his 40s with late-onset Fabry disease who had polymorphic ventricular tachycardia and fibrillation during enzyme replacement therapy. After recovery from successful cardiopulmonary resuscitation, we recommended implantation of an implantable cardioverter-defibrillator; however, the patient refused to undergo implantation at that time. We administered a wearable cardioverter-defibrillator at his discharge, and he was successfully rescued from polymorphic ventricular tachycardia and fibrillation. He was finally given an implantable cardioverter-defibrillator. In Fabry disease, lethal ventricular arrhythmia is an important cause of sudden death. Ventricular tachycardia and fibrillation during enzyme replacement therapy have not been reported. Furthermore, secondary prevention of lethal ventricular arrhythmia using a wearable cardioverter-defibrillator has not been reported in Fabry disease. Therefore, this case report has implications for the possible incidence and prevention of lethal ventricular arrhythmias in patients with Fabry disease. [ABSTRACT FROM AUTHOR]

• Late gadolinium enhancement (LGE) was positive in 5 of 26 Fabry patients. • All of the LGE-positive patients showed left ventricular hypertrophy. • LGE was localized at the mid-wall in the infero-lateral area of the left ventricle. Fabry disease is one of the causes of left ventricular hypertrophy (LVH) and can be treated with enzyme replacement therapy or pharmacological chaperone therapy. Late gadolinium enhancement (LGE) in cardiac magnetic resonance (CMR) can identify myocardial fibrosis and be used for the stratification in LVH. However, the details of the prevalence and characteristics of LGE in Japanese Fabry patients have not been reported. We evaluated myocardial involvement in 26 Fabry patients (10 males, 16 females) using gadolinium-enhanced CMR. LGE areas were analyzed using the previously reported scoring method. Echocardiography was also performed to evaluate the left ventricular function and left ventricular mass. LGE on CMR images was positive in 5 out of 26 patients, and all patients with LGE-positive findings suffered from LVH (2 out of 5 male patients and 3 out of 4 female patients with LVH on echocardiography). LGE was specifically localized at the mid-wall in the infero-lateral area of the left ventricle. LGE-positive patients seemed to be older, and tended to have a larger left ventricular mass index and higher B-type natriuretic peptide level than LGE-negative patients. These results revealed that specific localization of LGE was present in Fabry patients. [ABSTRACT FROM AUTHOR]

Background and Purpose: Fabry disease (FD) is an X-linked lysosomal storage disorder frequently associated with the central nervous system manifestations. Although white matter hyperintensity (WMH) on MRI has been previously reported, little is known about cerebral microbleeds (CMBs) in patients with FD. Our aim is to investigate the clinical characteristics of CMBs in patients with FD.Methods: All patients with FD were diagnosed by enzyme activity and/or gene analysis at Jikei University Hospital. We retrospectively enrolled consecutive patients with FD who underwent MRI study, including fluid-attenuated inversion recovery and susceptibility-weighted imaging, between July 2008 and September 2013. After categorizing the patients into CMB-positive and CMB-negative groups, we compared the clinical characteristics between the 2 groups.Results: We enrolled 54 patients (males, 24; median age 39 years, interquartile range; 29-50 years). The CMB-positive group included 16 (30%) patients. The number of males was significantly higher in the CMB-positive group than in the CMB-negative group (75% versus 32%, P = .003). The prevalence rates of chronic kidney disease (CKD) (estimated glomerular filtration rate < 60 mL/min/1.73 m(2)) and WMH were higher in the CMB-positive group than in the CMB-negative group (CKD: 44% versus 13%, P = .013; WMH: 88% versus 58%, P = .035). No significant differences in the number of vascular risk factors were observed between the 2 groups.Conclusions: The distinct characteristics of FD patients with CMBs were male sex, presence of CKD, and WMH. These factors may play an important role in the mechanism of hemorrhagic stroke in FD. [ABSTRACT FROM AUTHOR]

Abstract: The 1p36 deletion syndrome is a newly delineated multiple congenital anomalies/mental retardation syndrome characterized by mental retardation, growth delay, epilepsy, congenital heart defects, characteristic facial appearance, and precocious puberty. We analyzed 11 patients by fluorescence in situ hybridization (FISH) using commercially available bacterial artificial chromosome and P1-derived artificial chromosome genomic clones to define the chromosomal deletion responsible for the 1p36 deletion syndrome. Cytogenetic investigation revealed two cases with a terminal deletion of 1p36. Nine patients had an apparently normal karyotype with standard G-bands by trypsin using Giemsa (GTG), but FISH screening with the highly polymorphic genetic marker D1Z2, which is mapped to 1p36.3 and contains an unusual reiterated 40-bp variable number tandem repeat, revealed a submicroscopic deletion. All patients had severe to profound mental retardation. Based on the University of California Santa Cruz Genome Browser, we constructed a deletion map and analyzed the relationship between neurological findings and chromosomal deletions for the 11 cases. Six cases had intractable epilepsy and three had no seizures. The common deletion interval was about 1 million base pairs (Mbp) located between RP11-82D16 and RP4-785P20 (Rho guanine exchange factor (GEF) 16). The severity of clinical symptoms correlates with the size of the deletion. This is demonstrated by the 3 patients with at least 8Mbp deletions that display profound mental retardation and congenital heart defects. Although haploinsufficiency of the potassium channel beta-subunit (KCNAB2) is thought to be responsible for intractable seizures in the 1p36 deletion syndrome, this was not the case for 3 of the 11 patients in this study. Further investigation of the 1p36 region is necessary to allow identification of genes responsible for the 1p36 deletion syndrome. [Copyright &y& Elsevier]