Cross‐sectional baseline analysis of electrocardiography in a large cohort of patients with untreated Fabry disease

Niemann, Markus; Hartmann, Tanja N.; Namdar, Mehdi; Breunig, Frank; Beer, Meinrad; Machann, Wolfram; Herrmann, Sebastian; Ertl, Georg; Wanner, Christoph; Weidemann, Frank

doi:10.1007/s10545-012-9540-8

Cited by 31 publications

(30 citation statements)

References 28 publications

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“…Results of the resting ECG correspond to those of previous studies identifying atrioventricular conduction (Niemann et al 2013;Namdar et al 2010), ventricular depolarization (Kampmann et al 2002), and an increased LV Sokolow-Lyon index as a nonquantitative measure for hypertrophy (Linhart et al 2001;Weidemann et al 2005). Repolarization abnormalities are common in FD, as confirmed in previous studies (Niemann et al 2013;Namdar et al 2011).…”

Section: Resting Ecgsupporting

confidence: 87%

“…Repolarization abnormalities are common in FD, as confirmed in previous studies (Niemann et al 2013;Namdar et al 2011). T inversion could be a sign of pathological LE and thus of replacement fibrosis.…”

Section: Resting Ecgsupporting

confidence: 76%

“…Another key feature is myocardial replacement fibrosis, detected with cardiac magnetic resonance imaging (cMRI) (Moon et al 2003(Moon et al , 2006. In early reports, a short P-R interval was described as one of the typical alterations on electrocardiography (ECG) (Roudebush et al 1973), but a large crosssectional study failed to confirm this finding (Niemann et al 2013). So far, information about electrical alterations has been largely derived from cross-sectional studies, and exercise testing is not regularly used for clinical evaluation in FD (Koskenvuo et al 2010).…”

Section: Introductionmentioning

confidence: 99%

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Electrical Changes in Resting, Exercise, and Holter Electrocardiography in Fabry Cardiomyopathy

et al. 2015

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Background: In Fabry cardiomyopathy, little is known about the interaction between its key feature of myocardial replacement fibrosis and changes in resting, Holter, and exercise electrocardiography (ÀECG).Methods and Results: Resting ECG, 24-h Holter ECG, and exercise ECG were performed in 95 patients (50 women) with Fabry disease, staged using cardiac magnetic resonance imaging to measure left ventricular fibrosis. With resting ECG, T alterations were seen in patients with cardiac fibrosis, while time intervals and rhythm were unchanged (except for a longer QRS duration in patients with severe fibrosis). All patients with severe fibrosis showed T inversion, ST alteration, or both. With Holter ECG, maximum and minimum heart rate did not differ with fibrosis severity. Patients without fibrotic tissue showed less ventricular premature beats (VPB) (median 5/24 h) compared to those with mild (median 11/24 h) or severe fibrosis (median 115/24 h; P < 0.05, respectively). Fibrosis was a strong predictor of VPB burden (r 2 ¼ 0.5; P < 0.001). During exercise, patients with severe fibrosis had the least increase in systolic blood pressure (sBP) (47 AE 22 mmHg vs. 62 AE 25 mmHg, P < 0.05) and the lowest maximum heart rate (113 AE 18/min; P < 0.05). Patients with mild fibrosis had a high sBP during exercise (198 AE 37 mmHg; P < 0.05). Decreased diastolic blood pressure (>10 mmHg) occurred in some patients with no (3/41) or mild fibrosis (3/ 34) but not in patients with severe fibrosis (0/20; P < 0.01).Conclusions: Our data suggest that cardiac replacement fibrosis is responsible for repolarization abnormalities on resting ECG and increased VPB with Holter ECG. During exercise ECG, advanced cardiomyopathy is characterized by chronotropic incompetence with limitations on blood pressure and heart rate increase.

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Section: Resting Ecgsupporting

confidence: 87%

Section: Resting Ecgsupporting

confidence: 76%

Section: Introductionmentioning

confidence: 99%

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Electrical Changes in Resting, Exercise, and Holter Electrocardiography in Fabry Cardiomyopathy

et al. 2015

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“…Of the included families, at least all index patients showed a characteristic storage pattern of an affected organ and we assume that this result can be extrapolated to family members with the same GLA mutation. This is supported by a study showing characteristic storage pattern throughout non-classical Myocardial late enhancement infero-postero-lateral region (43)(44)(45)(46)(47)(72)(73)(74)(75)(76)(77) families [87]. Even if this would have led to the inclusion of non-Fabry patients, this would not have altered our conclusions, because this would not have led to a higher number of false negatives: i.e.…”

Section: Discussionsupporting

confidence: 61%

“…From the remaining 52 articles, 9 entry or exit criteria were pre-selected (Table 1). A summary of all articles reviewed and the results of the Dutch validation cohort were presented to the panel (online supplementary data [39][40][41][42][43][44][45][46][47][72][73][74][75][76][77]). …”

Section: Pre-selection Of Voting Items: Systematic Reviewmentioning

confidence: 99%

Uncertain diagnosis of Fabry disease: Consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance

Smid

Tol

Cecchi

et al. 2014

International Journal of Cardiology

139

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An expert consensus document on the management of cardiovascular manifestations of Fabry disease

Linhart

Germain

Olivotto

et al. 2020

European J of Heart Fail

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Fabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic variants in the-galactosidase A (GLA) gene that leads to reduced or undetectable-galactosidase A enzyme activity and progressive accumulation of globotriaosylceramide and its deacylated form globotriaosylsphingosine in cells throughout the body. FD can be multisystemic with neurological, renal, cutaneous and cardiac involvement or be limited to the heart. Cardiac involvement is characterized by progressive cardiac hypertrophy, fibrosis, arrhythmias, heart failure and sudden cardiac death. The cardiac management of FD requires specific measures including enzyme replacement therapy or small pharmacological chaperones in patients carrying amenable pathogenic GLA gene variants and more general management of cardiac symptoms and complications. In this paper, we summarize current knowledge of FD-related heart disease and expert consensus recommendations for its management.

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Cross‐sectional baseline analysis of electrocardiography in a large cohort of patients with untreated Fabry disease

Cited by 31 publications

References 28 publications

Electrical Changes in Resting, Exercise, and Holter Electrocardiography in Fabry Cardiomyopathy

Electrical Changes in Resting, Exercise, and Holter Electrocardiography in Fabry Cardiomyopathy

Uncertain diagnosis of Fabry disease: Consensus recommendation on diagnosis in adults with left ventricular hypertrophy and genetic variants of unknown significance

An expert consensus document on the management of cardiovascular manifestations of Fabry disease

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