A novel missense mutation for Fabry disease detected by echocardiographic screening in left ventricular hypertrophy patients

Fabry disease is an X-linked lysosomal storage disease caused by mutations in the a-galactosidase A gene (GLA), leading to the absence or a reduction of the enzymatic activity of the encoded enzyme and subsequent progressive tissue accumulation of glycosphingolipids through-out all the body, with consequent multiorgan failure. Here, we report the case of a 57-year-old woman with Fabry disease due to a novel GLA gene mutation

SCORE risk scale as a prognostic factor after sudden sensorineural hearing loss

Menezes et al. recently published an interesting study on cardiovascular prognostic factors for sudden sensorineural hearing loss (SSNHL), analyzing therapeutic strategies with intravenous and intratympanic corticosteroids and evaluating the application of the Systematic Coronary Risk Evaluation risk scale to classify risk in patients with SSNHL. In addition to intravenous and intratympanic corticosteroids, we would like to stress the role of hyperbaric oxygen therapy (HBOT). The new guidelines on SSNHL and the most recent scientific evidence emphasize the therapeutic role of HBOT. In a previous study, we recommended the use of HBOT in addition to intravenous steroid for patients with idiopathic SSNHL. For the best outcomes, we also recommended starting treatment within 14 days from the onset of SSNHL. In the same article, we discussed potential risk factors for SSNHL. Among cardiovascular risk factors, we suggest the possible association between patent foramen ovale (PFO) and SSNHL. The higher prevalence of PFO in our patients (50%) compared to controls suggests that SSNHL may be attributable to a paradoxical embolism, such as a venous embolism as a result of PFO

A novel missense mutation for Fabry disease detected by echocardiographic screening in left ventricular hypertrophy patients

Fabry disease is an X-linked lysosomal storage disease caused by mutations in the a-galactosidase A gene (GLA), leading to the absence or a reduction of the enzymatic activity of the encoded enzyme and subsequent progressive tissue accumulation of glycosphingolipids through-out all the body, with consequent multiorgan failure. Here, we report the case of a 57-year-old woman with Fabry disease due to a novel GLA gene mutation

Risk stratification using the CHA2DS2-VASc score in Takotsubo syndrome: Data from the Takotsubo Italian network

Background--The CHA2DS2-VASc score predicts stroke in patients with atrial fibrillation and has been reported to have a prognostic role even in acute coronary syndrome patients. The Takotsubo syndrome is a condition that mimics acute coronary syndrome and may present several complications including stroke. We sought to assess the ability of CHA2DS2-VASc score to predict adverse events in Takotsubo syndrome patients. Methods and Results--Overall, 371 Takotsubo syndrome patients were enrolled in a prospective registry. Patients were divided into 3 groups according to the CHA2DS2-VASc score: Group A (â\u89¤1), B (2-3), and C (â\u89¥4). The median CHA2DS2-VASc score was 3 (interquartile range: 2-4). Overall, 9%, 42%, and 49% were included in Group A, B, and C, respectively. Follow-up length was 26±20 months. The mortality rate was 6%, 7%, and 17% in Group A, B, and C, respectively (P= 0.011). The stroke rate was 3% and not different among the 3 groups. Estimated major adverse cardiac and cerebrovascular events (the composite of death, myocardial infarction, and stroke) rates in the 3 groups were 6%, 9%, and 17% in Group A, B, and C, respectively (P=0.033). The CHA2DS2-VASc score resulted as a predictor of major adverse cardiac and cerebrovascular events (odds ratio 2.1, 95% confidence interval, 1.2-3.6; P=0.01) and all-cause mortality (odds ratio 1.5, 95% confidence interval, 1.2-1.9; P=0.001). Conclusions--In Takotsubo syndrome, the CHA2DS2-VASc score allows prediction of cardiovascular events and mortality at longterm follow-up