Atrioventricular conduction disturbances in a young patient with Fabry's disease without other signs of cardiac involvement

Kouris, Nikos T.; Kontogianni, Dimitra D.; Pavlou, Maria T.; Babalis, Dimitris

doi:10.1016/j.ijcard.2003.10.065

Cited by 6 publications

(3 citation statements)

References 6 publications

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“…5 Importantly, Gb3 accumulation in the AV conduction system and AV conduction disturbances system may precede the onset of LVH. 19 We have shown previously that atrial dysfunction can also precede LVH as LA reservoir dysfunction was present despite normal LV mass in a proportion of 11% FD patients. 20 Similarly, AF can be the first clinical manifestation of FD pointing at early isolated LA involvement.…”

Section: Discussionmentioning

confidence: 86%

Severe bradyarrhythmia linked to left atrial dysfunction in Fabry disease—A cross‐sectional study

Pichette

Nadeau

et al. 2018

Clinical Cardiology

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Section: Discussionmentioning

confidence: 86%

Severe bradyarrhythmia linked to left atrial dysfunction in Fabry disease—A cross‐sectional study

Pichette

Nadeau

et al. 2018

Clinical Cardiology

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“…With the use of ERT and antiproteinuric therapy, renal outcomes have improved and currently the most common cause of death is cardiac involvement and sudden cardiac death [41], [42] Electrocardiographic changes that have been described in Fabry disease include atrial fibrillation, atrioventricular conduction abnormalities, left ventricular hypertrophy, and repolarization abnormalities [17], [43]; [44]. Cardiac symptoms in patients with Fabry disease include bradycardia, shortness of breath with exertion, vasospastic and/or exertional angina pectoris, and syncope [45], [46].…”

Section: Discussionmentioning

confidence: 99%

Cardiomyopathy and Response to Enzyme Replacement Therapy in a Male Mouse Model for Fabry Disease

et al. 2012

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Fabry disease is an X-linked disorder of glycosphingolipid metabolism that results in progressive accumulation of neutral glycosphingolipids, (predominately globotriaosylceramide; GL-3) in lysosomes, as well as other cellular compartments and the extracellular space. Our aim was to characterize the cardiac phenotype of male knock-out mice that are deficient in alpha-galactosidase A activity, as a model for Fabry disease and test the efficacy of Enzyme Replacement Therapy with agalsidase-beta. Male mice (3–4 months of age) were characterized with awake blood pressure and heart rate measurements, cardiac echocardiography and electrocardiography measurements under light anesthesia, histological studies and molecular studies with real-time polymerase chain reaction. The Fabry knock-out mouse has bradycardia and lower blood pressure than control wild type (CB7BL/6J) mice. In Fabry knock-out mice, the cardiomyopathy associated mild hypertrophy at echography with normal systolic LV function and mild diastolic dysfunction. Premature atrial contractions were more frequent in without conduction defect. Heart weight normalized to tibial length was increased in Fabry knock-out mice. Ascending aorta dilatation was observed. Molecular studies were consistent with early stages of cardiac remodeling. A single dose of agalsidase-beta (3 mg/kg) did not affect the LV hypertrophy, function or heart rate, but did improve the mRNA signals of early cardiac remodeling. In conclusion, the alpha-galactosidase A deficient mice at 3 to 4 months of age have cardiac and vascular alterations similar to that described in early clinical stage of Fabry disease in children and adolescents. Enzyme replacement therapy affects cardiac molecular remodeling after a single dose.

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“…In this sense, patients with FD should be evaluated with an electrocardiogram (ECG) because ventricular repolarization disorders and conduction abnormalities may occur several years before the patient develops LVH or other cardiovascular manifestations. [48][49][50][51] Moreover, changes in the tissue Doppler velocities also precede the development of LVH, and strain rate imaging and 2-dimensional speckle tracking echocardiography may evidence left ventricle, right ventricle, and left atrium dysfunction, even when conventional cardiac parameters are normal ( Figure 2). [52][53][54][55][56] Endomyocardial biopsy and perfusion studies with dipyridamole infusion with 13 N-labeled ammonia by positron-emission tomography can reveal the presence of microvascular dysfunction, which is also an early sign of cardiac involvement and precedes the development of LVH.…”

Section: Early Diagnosismentioning

confidence: 99%

Cardiac Manifestation of Fabry Disease

Fernández

Politei

2016

Journal of Inborn Errors of Metabolism and Screening

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Although Fabry disease was identified a century ago, it is still a challenging condition to diagnose and treat. Registries data suggest that at least 10% of patients may first present with a cardiac event and that cardiac disease is 1 of the 3 major causes of morbidity and mortality in affected males and females. Cardiac involvement in Fabry disease may be expressed as left ventricular hypertrophy (LVH), coronary disease, atrioventricular conduction disturbances, arrhythmias, and valvular involvement. The exact mechanism by which hypertrophy and fibrosis in the heart occur is not fully understood. Lysosomal globotriaosylceramide accumulation in the myocardium is responsible for only 3% of the mass in the hypertrophic heart, indicating that the LVH is not a direct result of substrate infiltration. One of the most important contributions that cardiologists can make is to consider the diagnosis of Fabry disease in patients with cardiac manifestations preceding the development of LVH and conduct family screening to identify patients with early cardiac involvement which will benefit more from enzyme replacement therapy (ERT). Fabry patients without cardiac manifestations of the disease should be evaluated annually by a cardiologist specialized in Fabry disease, regardless of the indication for ERT.

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Atrioventricular conduction disturbances in a young patient with Fabry's disease without other signs of cardiac involvement

Cited by 6 publications

References 6 publications

Severe bradyarrhythmia linked to left atrial dysfunction in Fabry disease—A cross‐sectional study

Severe bradyarrhythmia linked to left atrial dysfunction in Fabry disease—A cross‐sectional study

Cardiomyopathy and Response to Enzyme Replacement Therapy in a Male Mouse Model for Fabry Disease

Cardiac Manifestation of Fabry Disease

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