Cardiac challenges in patients with Fabry disease

Weidemann, Frank; Linhart, Aleš; Monserrat, Lorenzo; Strotmann, Joerg

doi:10.1016/j.ijcard.2009.08.002

Cited by 47 publications

(27 citation statements)

References 77 publications

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“…For example, symptomatic bradycardia due to significant atrioventricular block may require pacemaker implantation, and an implantable cardioverter defibrillator is indicated in the management of malignant ventricular arrhythmias. 61 …”

Section: Cardiac Diseasementioning

confidence: 99%

Therapeutic goals in the treatment of Fabry disease

Mehta

West

Pintos-Morell

et al. 2010

Genetics in Medicine

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Purpose: Fabry disease is a progressive multiorgan, multisystem disorder that is caused by a deficiency in the lysosomal enzyme ␣-galactosidase A. Serious renal, cardiac, and cerebrovascular involvement are responsible for much of the morbidity and premature mortality associated with Fabry disease, and neuropathic pain, gastrointestinal problems, and hypohidrosis negatively affect quality of life of patients with Fabry disease. Fabry disease is X-linked, but women are often symptomatic and may be as severely affected as men. Methods: We propose a series of therapeutic and symptomatic goals for use in setting the expectations of enzyme replacement therapy and for assessing the response to enzyme replacement therapy in the treatment of Fabry disease. Results: Enzyme replacement therapy has been available since 2001 and has been associated with benefit in clinical trials, including stabilization of kidney function, improvement of cardiac structure and function, reduction in severity of neuropathic pain, and improvement in gastrointestinal involvement. Conclusions: The presentation of these therapeutic goals will aid in the evaluation of response to enzyme replacement therapy and be useful in establishing an overall management plan for individual patients. Genet Med 2010:12(11):713-720.

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Section: Cardiac Diseasementioning

confidence: 99%

Therapeutic goals in the treatment of Fabry disease

Mehta

West

Pintos-Morell

et al. 2010

Genetics in Medicine

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“…In general, effects on the heart are well described as a concentric hypertrophic cardiomyopathy with reduced regional myocardial function (Breunig et al 2003;Weidemann et al 2010;Linhart et al 2000). Another key feature is myocardial replacement fibrosis, detected with cardiac magnetic resonance imaging (cMRI) (Moon et al 2003(Moon et al , 2006.…”

Section: Introductionmentioning

confidence: 99%

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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“…The CV manifestations of Fabry disease include hypertension, left ventricular hypertrophy (LVH), rhythm and conduction abnormalities, increased intimamedia thickness, valvular insufficiency, and ischemic heart disease (7)(8)(9). Over time, these cardiac complications can progress to heart failure (HF), myocardial infarction (MI), and life-threatening arrhythmias (4,6,10).…”

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confidence: 99%