PMID: 2108248Feb 1, 1990Paper

Cardiovascular studies in the mucopolysaccharidoses

Journal of Medical Genetics
J NelsonH C Mulholland

Abstract

Cardiovascular studies were performed on 22 patients with mucopolysaccharidosis ascertained from an epidemiological study on the mucopolysaccharidoses in Northern Ireland. None of the patients had attended a cardiologist before the study. The main echocardiographical findings were thickening of the interventricular septum and left ventricular posterior wall in the absence of ECG evidence of ventricular hypertrophy. Moreover, reduced QRS voltages were present in the majority of the patients (77%) and some had reduced shortening fraction (33%). These findings suggest an infiltrative cardiomyopathy owing to mucopolysaccharide deposition as a cause of the cardiac thickening rather than true ventricular hypertrophy. Thickening of the mitral valve was present in one case and thickening of the aortic valve in two cases. Involvement of the other heart valves was minimal and aortic valve disease was not found in any of the cases of Morquio's disease type A. In conclusion, the clinical, ECG, and chest x ray findings and echocardiographical evidence for valvular involvement were significantly less than in other studies. Hence, the incidence of clinically significant cardiovascular disease in patients with mucopolysaccharidosis has probabl...Continue Reading

References

Oct 1, 1979·The Journal of Pediatrics·A K DoneJ M Clayton
Oct 1, 1975·Circulation·R M SchiekenH Zellweger
Oct 1, 1972·The American Journal of the Medical Sciences·A D Marks
Jul 1, 1981·British Heart Journal·M A Ireland, D B Rowlands
Jan 1, 1982·Critical Care Medicine·J De AngelisD Bluestone
Jul 1, 1982·The American Journal of Sports Medicine·J M Dickason, J M Fox
Dec 1, 1982·American Journal of Physical Anthropology·S M BaileyK E Guire
Oct 1, 1981·The Journal of Pediatrics·E F Bell
Oct 1, 1954·British Heart Journal·R W EMANUEL
Jan 1, 1950·British Heart Journal·S LINDSAY

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Citations

Apr 6, 2002·Cardiovascular Pathology : the Official Journal of the Society for Cardiovascular Pathology·David I KettlesChristopher Davidson
Feb 7, 2009·Cardiology in the Young·Vlasta FesslováRossella Parini
Apr 27, 2010·Cardiology in the Young·Gabriela N LealChong A Kim
Sep 1, 1992·Acta Paediatrica·V FarinaP Strisciuglio
Jan 27, 2012·Journal of Inherited Metabolic Disease·Marion M M G BrandsAns T van der Ploeg
Jun 19, 2007·Journal of Inherited Metabolic Disease·O I I SolimanM L Geleijnse
Feb 1, 1995·European Journal of Pediatrics·C F WippermannB K Jüngst
May 7, 2013·Insights Into Imaging·Stefano PalmucciGiovanni Carlo Ettorre
Jul 9, 2011·International Journal of Cardiology·Adam GoldaAnna Tylki-Szymanska
Jun 19, 2012·International Journal of Cardiology·Adam GoldaAnna Tylki-Szymańska
Oct 24, 2006·Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia·John NeelyLucas Restrepo
Apr 11, 2018·Orphanet Journal of Rare Diseases·Tamás ZeleiCsaba Siffel

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