The variation of morphological and functional cardiac manifestation in Fabry disease: potential implications for the time course of the disease

Weidemann, Frank; Breunig, Frank; Beer, Meinrad; Sandstede, J.; Störk, Stefan; Voelker, Wolfram; Ertl, Georg; Knoll, Anita; Wanner, Christoph; Strotmann, Joerg

doi:10.1093/eurheartj/ehi143

Cited by 212 publications

(182 citation statements)

References 23 publications

(36 reference statements)

Supporting

Mentioning

154

Contrasting

Unclassified

Order By: Relevance

“…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: 86%

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

et al. 2015

Self Cite

View full text Add to dashboard Cite

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.

show abstract

Section: Resting Ecgsupporting

confidence: 86%

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

et al. 2015

Self Cite

View full text Add to dashboard Cite

show abstract

“…Renal involvement is progressive, eventually leading to end-stage renal disease (ESRD) by the fourth and fifth decades of life if untreated; prior to the advent of dialysis and renal transplantation, ESRD was the leading cause of death (Branton et al 2002). Cardiac manifestations include left ventricular (LV) hypertrophy, valvular disease, conduction abnormalities leading to arrhythmias, congestive heart failure, and coronary artery disease (Weidemann et al 2005;Linhart and Elliott 2007;Kampmann et al 2008;Linhart 2008;Morrissey et al 2011).…”

Section: Introductionmentioning

confidence: 99%

Effects of Switching from Agalsidase Beta to Agalsidase Alfa in 10 Patients with Anderson-Fabry Disease

et al. 2012

View full text Add to dashboard Cite

“…It can detect the patterns of late gadolinium enhancement specific to AFD [25,26] and has the advantage of being noninvasive. cMRI is equally important at follow-up and is especially useful for detecting fibrosis [27]. It provides information about disease progression and response to ERT, as patients with severe late enhancement do not respond to ERT [28,29].…”

Section: Follow-upmentioning

confidence: 99%

Delphi consensus on the current clinical and therapeutic knowledge on Anderson–Fabry disease

Concolino¹,

Degennaro²,

Parini³

et al. 2014

European Journal of Internal Medicine

View full text Add to dashboard Cite

Background: Management of Anderson-Fabry disease (AFD) is contentious, particularly regarding enzyme replacement therapy (ERT). We report results of a Delphi consensus panel on AFD management. Methods: A survey to gauge consensus among AFD experts was distributed online and responses were analysed. Statements on: 1) diagnosis; 2) when starting ERT; 3) management of ERT infusion and adverse reactions; and 4) follow-up/monitoring response to therapy and progression of disease were included. Responses without consensus were discussed with an enlarged panel and modified to reach consensus. Results: 15 experts responded to the survey. After plenary discussion among the enlarged panel, consensus was reached on most statements. Key points were the use of a target organ biopsy to show Gb3 deposits in symptomatic women with negative molecular analysis, the need for ERT in symptomatic women and in all patients with persistent signs and symptoms ± organ damage. It was agreed to assess vital signs before ERT administration and use a 0.2 μL filter on infusion to reduce the risk of adverse reactions, that serum should be drawn prior to the first infusion for anti-agalsidase antibody analysis to have a baseline value if a subsequent adverse reaction appears, and that pre-medication is required in those with prior infusion reactions. Holter ECG monitoring, cardiac and brain MRI, renal parameters, and abdominal ultrasound were considered important for the assessment of disease progression and response at ERT. Conclusions: This consensus supplies guidance to healthcare providers on best practice in the management of patients with AFD and indicates a need for more guidance.

show abstract

The variation of morphological and functional cardiac manifestation in Fabry disease: potential implications for the time course of the disease

Abstract: These results illustrate the variation of morphological changes and its functional consequences in Fabry cardiomyopathy.

Cited by 212 publications

References 23 publications

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

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

Effects of Switching from Agalsidase Beta to Agalsidase Alfa in 10 Patients with Anderson-Fabry Disease

Delphi consensus on the current clinical and therapeutic knowledge on Anderson–Fabry disease

Contact Info

Product

Resources

About