Increased aortic stiffness in glycogenosis type 2 (Pompe's disease)

Nemes, Attila; Soliman, Osama Ibrahim Ibrahim; Geleijnse, Marcel L.; Anwar, Ashraf M.; Beek, Nadine A.M.E. van der; Doorn, Pieter A. van; Gavallér, Henriette; Csajbók, Éva; Cate, Folkert J. ten

doi:10.1016/j.ijcard.2006.07.215

Cited by 31 publications

(33 citation statements)

References 7 publications

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“…Medcalc software (Medcalc, Mariakerke, Belgium) was used during statistical evaluations. Interobserver reproducibility for measuring aortic SD and DD using Bland-Altman method in our institution is 84 and 88%, respectively [11].…”

Section: Methodsmentioning

confidence: 85%

Increased aortic stiffness in ulcerative colitis

et al. 2014

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Section: Methodsmentioning

confidence: 85%

Increased aortic stiffness in ulcerative colitis

et al. 2014

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“…The loss of integrity of smooth muscle with disease progression may explain the occurrence of dilatative arteriopathies or aneurysms in these patients. Increased aortic stiffness has also been reported as a frequent finding in late-onset Pompe patients [7]. Cerebral vessel abnormalities have been considered a rare finding in late-onset Pompe patients, because the majority of case reports were focused on describing severe or lethal CNS complications associated with this condition, and no systematic studies existed [4].…”

Section: Discussionmentioning

confidence: 99%

Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease

Sacconi

Bocquet²,

Chanalet

et al. 2010

J Neurol

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Cerebral aneurysms and arteropathies causing severe cerebrovascular events have been reported as rare complications in patients with late-onset Pompe disease. We investigated the frequency of cerebrovascular anomalies in six patients with late-onset Pompe disease followed at our institution. Clinical data collection and magnetic resonance angiography were performed as part of routine annual examinations. Four out of six patients had brain vascular anomalies including dolichoectasia of the basilar artery and ectasia of internal carotids. These patients also complained of gastrointestinal symptoms (chronic constipation and gastrointestinal reflux). Two patients had clinical signs related to the arteriopathy, including partial paralysis of the third cranial nerve and transient ischemic attacks. At 1 year follow-up, enzyme replacement therapy did not modify the size of cerebral vessels, but patients reported a marked improvement of intestinal symptoms. In conclusion, neurologists should be aware that intracranial artery abnormalities are not infrequent in patients with late-onset Pompe disease, and they should be specifically investigated in the presence of unexplained CNS symptoms.

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“…A previous study that found increased aortic stiffness in a small group of patients with Pompe disease used transthoracic echocardiography, an indirect way of measuring aortic stiffness (Nemes et al 2007).…”

Section: Discussionmentioning

confidence: 99%

“…The first indication of increased aortic stiffness in nonclassic Pompe disease was reported in a study on 17 Pompe patients that used transthoracic Doppler echocardiography, a non-invasive tool that measures aortic stiffness indirectly (Nemes et al 2007). The presence of increased aortic stiffness may be relevant, since it is considered to be an independent risk factor for cardiovascular disease and mortality (MattaceRaso et al 2006; Verbeke et al 2011).…”

Section: Abbreviationsmentioning

confidence: 99%

Increased aortic stiffness and blood pressure in non-classic Pompe disease

Kuperus

Wens

Mattace‐Raso

et al. 2014

Molecular Genetics and Metabolism

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Vascular abnormalities and glycogen accumulation in vascular smooth muscle fibres have been described in Pompe disease. Using carotid-femoral pulse wave velocity (cfPWV), the gold standard methodology for determining aortic stiffness, we studied whether aortic stiffness is increased in patients with Pompe disease. Eighty-four adult Pompe patients and 179 age-and gender-matched volunteers participated in this cross-sectional case-controlled study. Intima media thickness and the distensibility of the right common carotid artery were measured using a Duplex scanner. Aortic augmentation index, central pulse pressure, aortic reflexion time and cfPWV were assessed using the SphygmoCor® system. CfPWV was higher in patients than in volunteers (8.8 versus 7.4 m/s, p <0.001). This difference was still present after adjustment for age, gender, mean arterial blood pressure (MAP), heart rate and diabetes mellitus (p =0.001), and was shown by subgroup analysis to apply to the 40-59 years age group (p =0.004) and 60+ years age group (p = 0.01), but not to younger age groups (p =0.99). Except for a shorter aortic reflexion time (p =0.02), indirect indicators of arterial stiffness did not differ between patients and volunteers. Relative to volunteers (20 %), more Pompe patients had a history of hypertension (36 %, p =0.005), and the MAP was higher than in volunteers (100 versus 92 mmHg, p <0.001). This study shows that patients with non-classic Pompe disease have increased aortic stiffness and blood pressure. Whether this is due to glycogen accumulation requires further investigation. To reduce the potential risk of cardiovascular diseases, we recommend that blood pressure and other common cardiovascular risk factors are monitored regularly. Abbreviations

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Increased aortic stiffness in glycogenosis type 2 (Pompe's disease)

Cited by 31 publications

References 7 publications

Increased aortic stiffness in ulcerative colitis

Increased aortic stiffness in ulcerative colitis

Abnormalities of cerebral arteries are frequent in patients with late-onset Pompe disease

Increased aortic stiffness and blood pressure in non-classic Pompe disease

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