New insights in cardiac structural changes in patients with Fabry’s disease

Linhart, Aleš; Paleček, Tomáš; Bultas, Jan; Ferguson, James J.; Hrudová, J; Karetová, Debora; Zeman, Jiřı́; Ledvinová, Jana; Poupětová, Helena; Elleder, M; Aschermann, Michael

doi:10.1067/mhj.2000.105105

Cited by 223 publications

(152 citation statements)

References 20 publications

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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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Section: Introductionmentioning

confidence: 99%

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

et al. 2015

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“…These data are consistent with a recent study of 30 patients with Anderson-Fabry disease; 37% of these patients had concentric LVH, 10% had ASH, and 3% had an eccentric pattern of hypertrophy. 9 In 25% of patients with familial HCM, ASH is associated with dynamic subaortic obstruction. 10 In the present study, one patient with Anderson-Fabry disease had a typical outflow gradient in association with concentric hypertrophy.…”

Section: Comparison Of Anderson-fabry Disease and Familial Hcmmentioning

confidence: 99%

Prevalence of Anderson-Fabry Disease in Male Patients With Late Onset Hypertrophic Cardiomyopathy

et al. 2002

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Background-Although studies have suggested that "late-onset" hypertrophic cardiomyopathy (HCM) may be caused by sarcomeric protein gene mutations, the cause of HCM in the majority of patients is unknown. This study determined the prevalence of a potentially treatable cause of hypertrophy, Anderson-Fabry disease, in a HCM referral population. Methods and Results-Plasma ␣-galactosidase A (␣-Gal) was measured in 79 men with HCM who were diagnosed at Ն40 years of age (52.9Ϯ7.7 years; range, 40 -71 years) and in 74 men who were diagnosed at Ͻ40 years (25.9Ϯ9.2 years; range, 8 -39 years). Five patients (6.3%) with late-onset disease and 1 patient (1.4%) diagnosed at Ͻ40 years had low ␣-Gal activity. Of these 6 patients, 3 had angina, 4 were in New York Heart Association class 2, 5 had palpitations, and 2 had a history of syncope. Hypertrophy was concentric in 5 patients and asymmetric in 1 patient. One patient had left ventricular outflow tract obstruction. All patients with low ␣-Gal activity had ␣-Gal gene mutations. Conclusion-Anderson-Fabry disease should be considered in all cases of unexplained hypertrophy. Its recognition is important given the advent of specific replacement enzyme therapy.

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“…Cardiac involvement is common, but not considered essential to reach diagnosis. Data from the literature show that not all patients have a cardiac alteration on echography [20,21].…”

Section: Diagnosismentioning

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

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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.

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New insights in cardiac structural changes in patients with Fabry’s disease

Cited by 223 publications

References 20 publications

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

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

Prevalence of Anderson-Fabry Disease in Male Patients With Late Onset Hypertrophic Cardiomyopathy

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

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