The Abbreviated Pr Interval of Fabry's Disease

Roudebush, Corbin P.; Foerster, J. M.; Bing, O.

doi:10.1056/nejm197308162890709

Cited by 50 publications

(14 citation statements)

References 9 publications

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“…In the light of recent observations of electrocardiographic changes in patients with Fabry's disease (Roudebush et al, 1973), our results are of some interest. Our data support the observation that patients with ACD have an increased incidence of accelerated atrioventricular conduction, but because of the total range of atrioventricular conduction times encountered, this feature is of no use in identifying involved patients.…”

mentioning

confidence: 64%

Angiokeratoma corporis diffusum (Anderson-Fabry disease) in a single large family in Nova Scotia.

Spence¹,

Clarke²,

D'entremont³

et al. 1978

Journal of Medical Genetics

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SUMMARY Eighteen males, 17 of whom were members of a single family, affected with angiokeratoma corporis diffusum were examined in detail to determine the extent of clinical variation of the expression of what was almost certainly the same X-linked mutation in each. The commonest symptom was episodic bouts of severe, painful dysaesthesia in hands and feet. This was a major complaint of 12, a minor complaint of 5, and absent in 1. In over half the subjects, the skin rash that is considered a characteristic sign of the disease was absent or inconspicuous. All exhibited mild clubbing of fingers and toes, and 15 showed variable limitation of active and passive extension of the 5th fingers bilaterally. Only 2 (aged 36 and 47) had evidence of significant renal disease. Electrocardiograms showed abnormally short PR intervals in 4, and right ventricular conduction disturbances in 5.

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mentioning

confidence: 64%

Angiokeratoma corporis diffusum (Anderson-Fabry disease) in a single large family in Nova Scotia.

Spence¹,

Clarke²,

D'entremont³

et al. 1978

Journal of Medical Genetics

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“…13 Indeed, the latter are implicated in the impulse transmission in neurons, and we speculate that they may cause the short PR and increased QRS voltages in FDCM. In particular, short PR firstly indicated by Roudebush in 1973 14 as a characteristic of FD is reported with a prevalence of ≈15% in large series. 15,16 In the absence of accessory pathways, it is attributed to Gb3 infiltration of the atrioventricular node.…”

Section: Discussionmentioning

confidence: 93%

Pathology and Function of Conduction Tissue in Fabry Disease Cardiomyopathy

Frustaci

Morgante

Russo

et al. 2015

Circ: Arrhythmia and Electrophysiology

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Original ArticleBackground-Cardiac arrhythmias are common in Fabry disease (FD) and may occur in prehypertrophic cardiomyopathy suggesting an early compromise of conduction tissue (CT). Therefore, FD X-linked and CT may be variously involved in male and female patients with FD cardiomyopathy, affecting CT function. Methods and Results-Among 74 patients with endomyocardial biopsy diagnosis of FD cardiomyopathy, 13 (6 men; 7 women; mean age, 50.1±13.5 years; maximal wall thickness, 16.7±3.7 mm) had CT included in histological specimens and 6 also at electron microscopy. CT glycolipid infiltration was defined as focal, moderate, extensive, or massive, if involved ≤30%, ≤50%, >50%, or 100% of cells; identified as loosely arranged small myocytes positive to HCN4 immunostaining, supplied by a centrally placed thick-walled arteriole. CT involvement was correlated with age, sex, and α-Gal gene mutation. CT function was evaluated by electrophysiological study and arrhythmias at Holter registration. CT infiltration was focal/moderate in 4 women with no arrhythmias and normal electrophysiological study, extensive in 3 women with atrial or ventricular arrhythmias and short HV interval, and massive in 6 men with atrial fibrillation or ventricular arrhythmias and short HV. Short PR/AH with increased refractoriness was additionally found in 3 patients with extensive/massive CT infiltration. A male patient with the shortest HV presented infra-Hissian block during decremental atrial stimulation. There was no correlation with age, maximal wall thickness, and type of gene mutation. Conclusions-CT infiltration in FD cardiomyopathy is constant in men and variable in women because of skewed X-chromosome inactivation; its extensive/massive involvement causes accelerated conduction with prolonged refractoriness and electric instability. (Circ Arrhythm Electrophysiol. 2015;8:799-805.

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“…In contrast to the thorough investigation on morphology and function of Fabry cardiac involvement by echocardiography and CMR the "old technique" of electrocardiography (ECG) has been widely neglected. This is somehow surprising, as the first reports of cardiac involvement in Fabry disease were mainly based on ECG changes (Mehta et al 1977;Roudebush et al 1973). Thus, we conducted a study to comprehensively establish the changes in resting ECG parameters in a large group of patients with Fabry disease in different disease stages.…”

Section: Introductionmentioning

confidence: 98%