Compromiso cardiaco en pacientes con Mucopolisacaridosis tipo II (Enfermedad De Hunter) / Cardiac commitment in patients with type II Mucopolysaccharidosis. (Hunter's disease)
Prensa méd. argent
;
105(6): 326-331, Jul 2019. fig, tab, graf
Article
in Spanish
| LILACS, BINACIS
| ID: biblio-1023677
ABSTRACT
This report describes the cardiac involvement of patients with mucopolysaccharidoses Type II (Hunter disease). Mucopolysaccharidoses Type II are an uncommon group of about 50 rare inherited metabolic disorders, that result from defects in lysosomal dysfunction, usually as a consequence of deficiency of a single enzyme required for the metabolism of lipids, glycoproteins or so called mucoplysaccharides. Most of this diorders are autosomal recesively inherited such as Hunter syndrome Mucopolysacharidosis. Tuype II is a lisosomal storage disease caused by a deficiency of the lysosomal ensyme iduronate 2 sulfatase. its frequency is 1 to 100.000 to 150.000 male births; is farmore common in boys. Clinical, electrocardiographical and sonographical variables were determined. As a result 18 patients were evaluated; all the patients presented cardiac involvement. Color Doppler sonocardiogram was pathological in the 100% of the patients, and 4 of them, showed mitral/and or aortic, and 4 patients with miocardic hypoertrophy, and 1 patient, pulmonary hipertension. A clinical review is prsented, and a guide for management is detailed (AU)
Index:
LILACS (Americas)
Main subject:
Echocardiography
/
Echocardiography, Doppler
/
Epidemiology, Descriptive
/
Retrospective Studies
/
Mucopolysaccharidosis II
/
Heart Valve Diseases
Type of study:
Observational study
Limits:
Adolescent
/
Adult
/
Child
/
Humans
/
Male
Language:
Spanish
Journal:
Prensa méd. argent
Journal subject:
Medicine
Year:
2019
Type:
Article
Affiliation country:
Argentina
Institution/Affiliation country:
Hospital Nacional Prof. Alejandro Posadas/AR
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