Expanding the clinical spectrum of late-onset Pompe disease: Dilated arteriopathy involving the thoracic aorta, a novel vascular phenotype uncovered

El-Gharbawy, Areeg; Bhat, G. J.; Murillo, Jaime; Thurberg, Beth L.; Kampmann, Christoph; Mengel, Karl-Eugen; Kishnani, Priya S.

doi:10.1016/j.ymgme.2011.04.009

Cited by 47 publications

(44 citation statements)

References 18 publications

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“…In our patients, however, the MCA and the distal ICA were also enlarged although the diameters of the proximal ICA and CCA were normal, implicating a more widespread, but not generalised, arterial dilation. Previous studies revealed similar findings: in adults with Pompe disease, the ascending aorta was found to be enlarged (El-Gharbawy et al 2011), and recently a reduced diameter in the CCA was reported (Wens et al 2014). The pathological basis of dilative arteriopathy and dolichoectasia in the general population is unknown, but both conditions are usually associated with severe atherosclerosis.…”

Section: Discussionmentioning

confidence: 57%

Morphology and Function of Cerebral Arteries in Adults with Pompe Disease

et al. 2014

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Objective: Cerebrovascular abnormalities have been reported in adult patients with Pompe disease. The objective was to study these abnormalities by (1) determining the diameter and mean flow velocity (MFV) of large cerebral arteries and (2) estimating cerebral blood flow (CBF), resistance index (RI) and cerebrovascular reactivity (CVR) as functions of resistance vessels.Methods: In ten adults with Pompe disease and twenty controls, the diameter, peak systolic (PSV) and enddiastolic velocities (EDV) of arteries supplying the brain were quantified by MR angiography and sonography. MFV, RI and CBF were calculated. CVR in the middle cerebral artery (MCA) was determined by hyperventilation and acetazolamide injection.Results: MR angiography revealed dilation of cerebral arteries predominantly in the posterior circulation. Dilative arteriopathy was found in three patients; two of them showed vertebrobasilar dolichoectasia. Despite of the dilative arteriopathy, the MFV was normal, indicating increased CBF and dilated resistance vessels. RI of all examined arteries and CVR of MCA were normal.Conclusion: The data suggest that dilation of small and large cerebral arteries is a common feature in adults with Pompe disease. Increased CBF might be the consequence of dilated resistance vessels. However, dysfunction of resistance vessels was rarely found.Synopsis: In adults with Pompe disease, dilation of small and large cerebral arteries is a common feature and might be associated with increased cerebral blood flow.

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Section: Discussionmentioning

confidence: 57%

Morphology and Function of Cerebral Arteries in Adults with Pompe Disease

et al. 2014

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“…Dilated arteriopathy has been reported in adults with LOPD (Quenardelle et al 2014;El-Gharbawy et al 2011), and very recently in a longterm survivor of infantile Pompe disease (Patel et al 2013), in addition to dolichoectasia of the basilar artery and ectasia of the internal carotids (Sacconi et al 2010;Laforêt et al 2008). Glycogen accumulation in smooth muscle may affect cellular contractility and thus weaken blood vessel walls.…”

Section: Discussionmentioning

confidence: 99%

“…Some of the complications, such as bowel and urinary incontinence, arterial aneurysms, and dysphagia, overlap with known complications in late-onset Pompe disease (LOPD) (El-Gharbawy et al 2011;Prater et al 2012;Hobson-Webb et al 2012;Laforêt et al 2008). Additional findings, such as cardiac arrhythmias and ocular refractory errors, are emerging (Prakalapakorn et al 2014).…”

Section: Introductionmentioning

confidence: 99%

Postmortem Findings and Clinical Correlates in Individuals with Infantile-Onset Pompe Disease

2015

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“…In tandem with therapeutic advances, the clinical and pathological understanding of late onset Pompe disease is also expanding. For example, it is now known that basilar artery aneurysms [7,12], aortic aneurysms [13], ptosis [14,15], and even cardiac disease can occur in association with LOPD [6,10,11,16]. Human autopsies and animal model studies have been important vehicles in understanding these previously uncharacterized findings.…”

Section: Introductionmentioning

confidence: 99%