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Recently, we reported that nearly one-third of males and onefourth of females had LVH among Fabry patients prior to enzyme replacement therapy (ERT) [9]. We also showed that the appearance of LVH was age-dependent, and the progression rate of left ventricular mass (LVM) was higher in male patients than in female patients [9,10]. LVH itself is a key manifestation of a heart A B S T R A C T Background: 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. Methods: 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. Results: 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. Conclusions: These results revealed that specific localization of LGE was present in Fabry patients.

Objective: An electrocardiogram (ECG) is an important tool for demonstrating cardiac manifestations in various heart diseases. The present study clarified the characteristics of ECG parameters in Japanese Fabry patients under long-term enzyme replacement therapy (ERT).Methods: We analyzed the ECGs of 40 Fabry patients (male, n = 17; female, n = 23) before and after treatment with ERT. To evaluate the atrio-ventricular conduction, the PQ interval, corrected PQ and PQ minus P-wave in lead II (Pend-Q) were calculated. The QRS duration, QTc, Sokolow-Lyon index, and strain pattern were also examined.Results: At the baseline, the shortening of the PQ interval, corrected PQ and Pend-Q was identified in 7.5, 25.0, and 47.5% of cases, respectively. The prolongation of QRS duration and QTc was found in 7.5 and 40.0% of cases, respectively. The strain pattern was mainly identified in female patients, irrespective of left ventricular hypertrophy (LVH). During long-term ERT, the PQ interval, corrected PQ and Pend-Q did not change significantly. The QRS duration was significantly prolonged in both genders, whereas the QTc was significantly prolonged only in male patients. A subgroup analysis revealed that the prolongation of the QRS duration and QTc only occurred in male patients with LVH and only occurred in female patients with the classical type mutation. The prevalence of the strain was significantly increased only in male patients with LVH.Conclusions: These results suggest that the shortening of the Pend-Q is a specific finding in Japanese Fabry patients, and the strain pattern without LVH in female patients can be considered Fabry disease. During long-term ERT, prolongation of the QRS duration and QTc can indicate the progression of myocardial damage in male patients with LVH and in female patients with the classical type mutation.

Filling defects of the left atrial appendage (LAA) on multidetector computed tomography (MDCT) are known to occur, not only due to LAA thrombi formation, but also due to the disturbance of blood flow in the LAA of patients with atrial fibrillation (AF). The purpose of this study was to evaluate the impact of the maintenance of sinus rhythm via ablation on the incidence of LAA filling defects on MDCT in patients with AF. A total of 459 consecutive patients were included in the present study. Prior to ablation, MDCT and transesophageal echocardiography (TEE) were performed. AF ablation was performed in patients without LAA thrombi confirmed on TEE. The LAA filling defects were evaluated on MDCT at 3 months after ablation. LAA filling defects were detected on MDCT in 51 patients (11.1 %), among whom the absence of LAA thrombi was confirmed in 42 patients using TEE. The LAA Doppler velocity in patients with LAA filling defects was lower than that of patients without filling defects (0.61 ± 0.19 vs. 0.47 ± 0.21 m/s; P < 0.0001). The sensitivity, specificity and negative predictive value of MDCT in the detection of thrombi were 100, 91 and 100 %, respectively. No LAA filling defects were observed on MDCT at 3 months after ablation in any of the patients, including the patients in whom filling defects were noted prior to the procedure. MDCT is useful for evaluating the presence of LAA thrombi and the blood flow of the LAA. The catheter ablation of AF not only suppresses AF, but also eliminates LAA filling defect on MDCT suggesting the improvement of LAA blood flow.

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