Terminal stage cardiac findings in patients with cardiac Fabry disease: An electrocardiographic, echocardiographic, and autopsy study

Takenaka, Toshihiro; Teraguchi, Hiroyuki; Yoshida, Aichi; Taguchi, Syuhei; Ninomiya, K; Umekita, Yoshihisa; Yoshida, Hiroki; Horinouchi, Michiko; Tabata, Kazuhiro; Yonezawa, Suguru; Yoshimitsu, Makoto; Higuchi, Koji; Nakao, Shoichiro; Anan, Ryuichiro; Minagoe, Shinichi; Tei, Chuwa

doi:10.1016/j.jjcc.2007.12.001

Cited by 125 publications

(105 citation statements)

References 30 publications

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“…1,2 In AFD patients, cardiac fibrosis and wall thinning are localized to the inferoposterior wall, although the mechanism remains unclear. 2, 3 In the present study, we used 123 I-meta-iodobenzylguanidine (MIBG) scintigraphy to examine whether cardiac sympathetic nervous activity is impaired in patients with AFD. Supplementary File 1.…”

Section: Discussionmentioning

confidence: 99%

Focal Reduction in Cardiac <sup>123</sup>I-Metaiodobenzylguanidine Uptake in Patients With Anderson-Fabry Disease

Yamamoto

Suzuki

Sugimura

et al. 2016

Circ J

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Background: It remains to be elucidated whether cardiac sympathetic nervous activity is impaired in patients with Anderson-Fabry disease (AFD). Methods and Results:We performed 123 I-meta-iodobenzylguanidine (MIBG) scintigraphy and gadoliniumenhanced cardiovascular magnetic resonance (CMR) in 5 AFD patients. MIBG uptake in the inferolateral wall, where wall thinning and delayed enhancement were noted on CMR, was significantly lower compared with the anteroseptal wall. The localized reduction in MIBG uptake was also noted in 2 patients with no obvious abnormal findings on CMR.Conclusions: Cardiac sympathetic nervous activity is impaired in AFD before development of structural myocardial abnormalities. (Circ J 2016; 80: 2550 -2551

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Section: Discussionmentioning

confidence: 99%

Focal Reduction in Cardiac <sup>123</sup>I-Metaiodobenzylguanidine Uptake in Patients With Anderson-Fabry Disease

Yamamoto

Suzuki

Sugimura

et al. 2016

Circ J

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“…19 They could show that there is a thinning of the posterior-lateral basal segment of the left ventricle, due to spreading replacement fibrosis. 19 In advanced stages this fibrosis leads to wall motion abnormalities that can be visualized even with standard echocardiography (Movies 1-3). It is of note that late enhancement in cardiac magnetic resonance can be seen even in some non-hypertrophic females, although there is no evidence of wall motion abnormality on echo.…”

Section: Hypertrophy and Fibrosismentioning

confidence: 99%

Echocardiography in Fabry Disease

Niemann

Weidemann

2013

Cardiogenetics

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Fabry disease is an X-linked lysosomal storage disorder caused by alpha-galactosidase A deficiency. The genetic defect leads to progressive intracellular accumulation of Gl3 in various tissues, including heart, kidney, vascular endothelium and the nervous system. Cardiac involvement is frequent and since renal transplantation therapy became standard most Fabry patients die due to cardiac reasons. Left ventricular hypertrophy is the morphological hallmark of the disease. Hypertrophy can be accompanied by various other cardiac findings, which can be visualized using echocardiography. Especially the left ventricular geometry and the regional myocardial function can show major alterations during disease progression. This review provides echocardiographic guidance in Fabry disease and highlights possible alterations of the hearts components visualizable with echocardiography. The main findings are summarized in the Take home message sections.

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“…16 Autopsy studies of patients with Fabry disease who died of primary cardiac events show a much higher rate of bradycardia and pacemaker use, up to 40%. 17 This study sought to examine the incidence of clinically significant arrhythmias in a series of patients with Fabry cardiomyopathy.…”

Section: Introductionmentioning

confidence: 99%

Arrhythmias in Fabry Cardiomyopathy

Acharya

Robertson

Kay

et al. 2012

Clinical Cardiology

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Background: Prior studies suggest that the incidence of ventricular arrhythmias is high in patients with Fabry cardiomyopathy. This study evaluated the incidence of significant arrhythmias in a series of patients with Fabry cardiomyopathy. Hypothesis: Arrhythmias are important causes of morbidity and mortality in Fabry Cardiomyopathy. Methods: This study was a retrospective chart review of 19 patients with known Fabry cardiomyopathy. Device interrogation reports were reviewed for those who had implantable devices. Electrocardiogram, Holter monitor, and event monitors were reviewed in those who did not have implantable devices. Results: Eighteen of nineteen patients were on enzyme replacement therapy (ERT). Nine (47%) out of 19 patients had implantable devices. Implant indications included symptomatic bradycardia, nonsustained ventricular tachycardia, conduction abnormalities, palpitations, and syncope. Mean follow-up in the patients with devices was 50 ± 23 months. Two patients received implantable cardioverter-defibrillator (ICD) shocks, 1 of which was inappropriate for atrial fibrillation. Patients were paced in the atrium 71% ± 37% of the time and paced in the ventricle 49% ± 52% of the time. Four patients with devices were paced more than 95% of the time. Patients with an ICD had lower heart rates prior to ICD implant than the group that did not have devices (60 ± 10 vs 78 ± 16, P = 0.03). Of the patients without devices, only 1 had sudden cardiac death. Patients with implanted devices had higher left ventricular (LV) mass indices compared to patients without implanted devices (136 ± 40 g/m 2 vs 93 ± 19 g/m 2 , P = 0.008). Conclusions: Significant ventricular arrhythmias are uncommon in patients with Fabry cardiomyopathy on ERT, but utilization of pacing is high. Sudden cardiac death in Fabry cardiomyopathy may be related to bradycardia.

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Terminal stage cardiac findings in patients with cardiac Fabry disease: An electrocardiographic, echocardiographic, and autopsy study

Cited by 125 publications

References 30 publications

Focal Reduction in Cardiac <sup>123</sup>I-Metaiodobenzylguanidine Uptake in Patients With Anderson-Fabry Disease

Focal Reduction in Cardiac <sup>123</sup>I-Metaiodobenzylguanidine Uptake in Patients With Anderson-Fabry Disease

Echocardiography in Fabry Disease

Arrhythmias in Fabry Cardiomyopathy

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