Cardiac evaluation in children and adults with Pompe disease sharing the common c.−32-13T&gt;G genotype rarely reveals abnormalities

Beek, Nadine A.M.E. van der; Soliman, Osama Ibrahim Ibrahim; Capelle, Carine I. van; Geleijnse, Marcel L.; Vletter, Wim B.; Kroos, Marian A.; Reuser, Arnold; Frohn-Mulder, Ingrid M.E.; Doorn, Pieter A. van; Ploeg, Ans T. van der

doi:10.1016/j.jns.2008.07.013

Cited by 31 publications

(23 citation statements)

References 38 publications

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“…35 Hypertrophic cardiomyopathy is a characteristic feature in patients with classic infantile Pompe disease (but not in the childhood and adult forms of Pompe disease) and in most cases it is known to respond well to ERT. 17,21,22 In our study, all classic infantile patients were already being treated with ERT (median, 5 years; interquartile range, 2-10 years), but in 4 patients LVH was not (yet) resolved at the time cTnT levels were measured. Patient 12 (Table II in the Data Supplement) had only received 2 infusions of ERT (cTnT, 39 ng/L) and patient 7 was treated for 6 months (cTnT, 20 ng/L).…”

Section: Discussionmentioning

confidence: 82%

“…19,20 The heart is generally not affected in nonclassic Pompe disease. 21,22 Increased cTnT concentrations were found in one of our adult patients who reported atypical chest pain. However, a comprehensive cardiac evaluation failed to reveal cardiac abnormalities.…”

mentioning

confidence: 79%

“…In addition, 13 patients with the classic infantile form underwent echocardiography within 1 month after the plasma samples were taken (Sonos 5500 or 7500 ultrasound system, Philips, Best, The Netherlands), as well as 48 patients with nonclassic Pompe disease with a suspicion of LVH based on the ECG, or who already underwent this procedure during a previous study. 21 The LV mass index (LVMI) was calculated and indexed by body surface area. 27 We used previously published data as reference values for children and young adults.…”

Section: Ecg and Echocardiographymentioning

confidence: 99%

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Elevated Plasma Cardiac Troponin T Levels Caused by Skeletal Muscle Damage in Pompe Disease

Wens

Schaaf

Michels

et al. 2016

Circ Cardiovasc Genet

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Background— Elevated plasma cardiac troponin T (cTnT) levels in patients with neuromuscular disorders may erroneously lead to the diagnosis of acute myocardial infarction or myocardial injury. Methods and Results— In 122 patients with Pompe disease, the relationship between cTnT, cardiac troponin I, creatine kinase (CK), CK-myocardial band levels, and skeletal muscle damage was assessed. ECG and echocardiography were used to evaluate possible cardiac disease. Patients were divided into classic infantile, childhood-onset, and adult-onset patients. cTnT levels were elevated in 82% of patients (median 27 ng/L, normal values <14 ng/L). Cardiac troponin I levels were normal in all patients, whereas CK-myocardial band levels were increased in 59% of patients. cTnT levels correlated with CK levels in all 3 subgroups ( P <0.001). None of the abnormal ECGs recorded in 21 patients were indicative of acute myocardial infarction, and there were no differences in cTnT levels between patients with and without (n=90) abnormalities on ECG (median 28 ng/L in both groups). The median left ventricular mass index measured with echocardiography was normal in all the 3 subgroups. cTnT mRNA expression in skeletal muscle was not detectable in controls but was strongly induced in patients with Pompe disease. cTnT protein was identified by mass spectrometry in patient-derived skeletal muscle tissue. Conclusions— Elevated plasma cTnT levels in patients with Pompe disease are associated with skeletal muscle damage, rather than acute myocardial injury. Increased cTnT levels in Pompe disease and likely other neuromuscular disorders should be interpreted with caution to avoid unnecessary cardiac interventions.

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Section: Discussionmentioning

confidence: 82%

mentioning

confidence: 79%

Section: Ecg and Echocardiographymentioning

confidence: 99%

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Elevated Plasma Cardiac Troponin T Levels Caused by Skeletal Muscle Damage in Pompe Disease

Wens

Schaaf

Michels

et al. 2016

Circ Cardiovasc Genet

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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%

Autopsy findings in late-onset Pompe disease: A case report and systematic review of the literature

Hobson‐Webb

Proia

Thurberg³

et al. 2012

Molecular Genetics and Metabolism

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“…Given the fact that ERT for Pompe disease is widely available in industrialized countries, we consider it unlikely that larger numbers of untreated patients will undergo CMR in the future. However, existing echocardiography-based data support that ERT has no significant impact on cardiac parameters in LOPD [6, 7]. …”

Section: Discussionmentioning

confidence: 99%

Pattern and prognostic value of cardiac involvement in patients with late-onset pompe disease: a comprehensive cardiovascular magnetic resonance approach

Boentert

Florian

Dräger

et al. 2016

Journal of Cardiovascular Magnetic Resonance

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BackgroundPompe disease is an autosomal recessive disorder caused by deficiency of the lysosomal α–1,4-glucosidase leading to accumulation of glycogen in target tissues with progressive organ failure. While the early infantile-onset form is characterized by early severe hypertrophic cardiomyopathy with cardiac and respiratory failure, clinically relevant cardiomyopathy seems to be uncommon in patients with late-onset Pompe disease, and the prevalence and nature of myocardial abnormalities are still to be clarified.MethodsSeventeen patients with genetically proven late-onset Pompe disease (50 ± 18 years, 11 male) and 18 age- and gender-matched healthy controls (44 ± 10 year, 12 male) underwent comprehensive cardiovascular magnetic resonance (CMR) including conventional and advanced techniques: cine and feature tracking-based strain imaging for depiction of (even subtle) systolic LV dysfunction as well as late gadolinium enhancement (LGE) and myocardial extracellular volume fraction (ECV) quantification for focal and diffuse fibrosis detection.ResultsAll patients had normal left ventricular (LV) and right ventricular (RV) volumes and normal LV and RV ejection fraction. In comparison to healthy controls, neither conventional cine nor advanced feature-tracking based-strain imaging could depict any (subclinical) myocardial systolic dysfunction. Three (18%) of the patients had non-ischemic LGE in the basal inferolateral wall and 21% demonstrated elevated global ECV values suggestive of interstitial myocardial fibrosis. Non-specific abnormalities such as left atrial (LA) dilatation were present in two patients, while LV hypertrophy was seen only in one. Two of the three LGE-positive patients were also hypertensive and demonstrated high global ECV values (>30%) in addition to dilated LA. After a median follow-up of 25 (11–29) months, only one cardiovascular event occurred: one of the LGE-positive patients with a high cardiovascular risk profile suffered an acute coronary syndrome.ConclusionIn contrast to the early infantile-onset form of Pompe disease, mild and rather non-specific cardiac abnormalities can be detected by CMR only in a small proportion of patients with late-onset Pompe disease. The observed structural abnormalities seem to result from an interplay between the storage disease and other comorbidities and they did not affect short-term to mid-term prognosis in adult Pompe patients.

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Cardiac evaluation in children and adults with Pompe disease sharing the common c.−32-13T>G genotype rarely reveals abnormalities

Cited by 31 publications

References 38 publications

Elevated Plasma Cardiac Troponin T Levels Caused by Skeletal Muscle Damage in Pompe Disease

Elevated Plasma Cardiac Troponin T Levels Caused by Skeletal Muscle Damage in Pompe Disease

Autopsy findings in late-onset Pompe disease: A case report and systematic review of the literature

Pattern and prognostic value of cardiac involvement in patients with late-onset pompe disease: a comprehensive cardiovascular magnetic resonance approach

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