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Circ Arrhythm Electrophysiol. 2015 Aug;8(4):799-805. doi: 10.1161/CIRCEP.114.002569. Epub 2015 Jun 5.

Pathology and function of conduction tissue in Fabry disease cardiomyopathy.

Author information

1
From the University of Rome Sapienza (A.F., E.M., P.F, C.C.), IRCCS L. Spallanzani (E.M., F.S., C.G., R.V., C.C.), and IRCCS S. Raffaele Pisana, Rome, Italy (M.A.R.). biocard@inmi.it.
2
From the University of Rome Sapienza (A.F., E.M., P.F, C.C.), IRCCS L. Spallanzani (E.M., F.S., C.G., R.V., C.C.), and IRCCS S. Raffaele Pisana, Rome, Italy (M.A.R.).

Abstract

BACKGROUND:

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.

KEYWORDS:

Fabry disease; arrhythmias; cardiac; cardiomyopathies; electron; microscopy; mutation

PMID:
26047621
DOI:
10.1161/CIRCEP.114.002569
[Indexed for MEDLINE]

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