PMID- 27931223
OWN - NLM
STAT- MEDLINE
DCOM- 20171212
LR  - 20240117
IS  - 1532-429X (Electronic)
IS  - 1097-6647 (Print)
IS  - 1097-6647 (Linking)
VI  - 18
IP  - 1
DP  - 2016 Dec 7
TI  - Pattern and prognostic value of cardiac involvement in patients with late-onset 
      pompe disease: a comprehensive cardiovascular magnetic resonance approach.
PG  - 91
LID - 91
AB  - BACKGROUND: Pompe disease is an autosomal recessive disorder caused by deficiency 
      of the lysosomal alpha-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. METHODS: Seventeen 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. RESULTS: All 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. CONCLUSION: In 
      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.
FAU - Boentert, Matthias
AU  - Boentert M
AD  - Department of Sleep Medicine and Neuromuscular Disorders, University Hospital 
      Munster, Munster, Germany.
FAU - Florian, Anca
AU  - Florian A
AD  - Department of Cardiovascular Medicine, University Hospital Munster, 
      Albert-Schweitzer-Campus 1, building A1, 48149, Munster, Germany.
FAU - Drager, Bianca
AU  - Drager B
AD  - Department of Sleep Medicine and Neuromuscular Disorders, University Hospital 
      Munster, Munster, Germany.
FAU - Young, Peter
AU  - Young P
AD  - Department of Sleep Medicine and Neuromuscular Disorders, University Hospital 
      Munster, Munster, Germany.
FAU - Yilmaz, Ali
AU  - Yilmaz A
AUID- ORCID: 0000-0003-4526-8679
AD  - Department of Cardiovascular Medicine, University Hospital Munster, 
      Albert-Schweitzer-Campus 1, building A1, 48149, Munster, Germany. 
      ali.yilmaz@ukmuenster.de.
LA  - eng
PT  - Journal Article
DEP - 20161207
PL  - England
TA  - J Cardiovasc Magn Reson
JT  - Journal of cardiovascular magnetic resonance : official journal of the Society 
      for Cardiovascular Magnetic Resonance
JID - 9815616
RN  - 0 (Contrast Media)
RN  - K2I13DR72L (Gadolinium DTPA)
SB  - IM
MH  - Acute Coronary Syndrome/diagnostic imaging/etiology
MH  - Adult
MH  - Aged
MH  - Asymptomatic Diseases
MH  - Cardiomyopathies/diagnostic imaging/etiology
MH  - Case-Control Studies
MH  - Contrast Media/administration & dosage
MH  - Female
MH  - Fibrosis
MH  - Gadolinium DTPA/administration & dosage
MH  - Glycogen Storage Disease Type II/*complications/diagnosis/enzymology/genetics
MH  - Heart Diseases/*diagnostic imaging/etiology/pathology/physiopathology
MH  - Humans
MH  - Hypertrophy, Left Ventricular/diagnostic imaging/etiology
MH  - *Magnetic Resonance Imaging, Cine
MH  - Male
MH  - Middle Aged
MH  - Myocardium/pathology
MH  - Predictive Value of Tests
MH  - Prognosis
MH  - Prospective Studies
MH  - Risk Factors
MH  - Stroke Volume
MH  - Ventricular Dysfunction, Left/diagnostic imaging/etiology
MH  - Ventricular Function, Left
MH  - Ventricular Function, Right
MH  - Ventricular Remodeling
MH  - Young Adult
PMC - PMC5146906
OTO - NOTNLM
OT  - Cardiac disease
OT  - Cardiomyopathy
OT  - Cardiovascular magnetic resonance
OT  - Feature tracking
OT  - Late gadolinium enhancement
OT  - Mapping
OT  - Pompe disease
EDAT- 2016/12/10 06:00
MHDA- 2017/12/13 06:00
PMCR- 2016/12/07
CRDT- 2016/12/10 06:00
PHST- 2016/09/15 00:00 [received]
PHST- 2016/12/02 00:00 [accepted]
PHST- 2016/12/10 06:00 [entrez]
PHST- 2016/12/10 06:00 [pubmed]
PHST- 2017/12/13 06:00 [medline]
PHST- 2016/12/07 00:00 [pmc-release]
AID - S1097-6647(23)01032-3 [pii]
AID - 311 [pii]
AID - 10.1186/s12968-016-0311-9 [doi]
PST - epublish
SO  - J Cardiovasc Magn Reson. 2016 Dec 7;18(1):91. doi: 10.1186/s12968-016-0311-9.