Unusual angiographic appearances of the left ventricle in 2 cases of Pompe's disease (glycogenosis type II).
نویسندگان
چکیده
The angiographic and haemodynamic findings in 2 cases of Pompe's disease (glycogenosis type II) indicated an abnormal trabecular pattern, not previously reported, on the left ventricular angiogram of both patients. This feature may be helpful in distinguishing Pompe's disease from other forms of myocardial abnormality.
منابع مشابه
Generalized glycogenosis type II (Pompe's disease).
Nihill, M. R., Wilson, D. S., and Hugh-Jones, K. (1970). Archives of Disease in Childhood, 45, 122. Generalized glycogenosis type II (Pompe's disease). The characteristic clinical features of 2 cases of Pompe's disease are presented, namely, signs of a cardiomyopathy with skeletal hypotonia and a characteristic ECG with a short PR interval and high voltage QRS complexes. Glycogen storage diseas...
متن کاملPompe's disease or type IIa glycogenosis.
This is the report of a five-month-old child presenting clinical evidence of Pompe's disease: severe hypotonicity, hyporeflexia and congestive heart failure. The ECG showed a short PR interval, the chest radiography disclosed marked cardiomegaly, and the echocardiogram revealed marked left ventricular hypertrophy - the most typical finding of this disease. A skeletal muscle biopsy led to final ...
متن کامل[Pompe disease or type 2 glycogenosis].
We report the case of a rapidly progressing respiratory failure of a three-month old infant, who shows a cardiomyopathy with left ventricule hypertrophy leading to a Pompe's disease diagnosis. This type 2 glycogenosis will be confirmed by the enzymatic study of the hepatocytes. It is a genetic pathology associated with a deficient activity of the acid maltase resulting in a intralysosomial accu...
متن کاملUltrastructure of the eye in fetal type II glycogenosis (Pompe's disease).
Type II glycogenosis is an autosomal recessive storage disease characterized by absence of the enzyme acid alpha-1,4-glucosidase. The eye of a 16 week fetus, aborted after diagnosis by amniocentesis, was studied by light and electron microscopy. Extensive deposits of lysosomal and cytoplasmic glycogen were present in virtually all ocular tissues examined, with the notable exception of pigment e...
متن کاملE7 (1057ΔTA) mutation of the acidic α-glucosidase gene causes Pompe's disease in Droughtmaster cattle.
OBJECTIVE To determine whether known loss-of-function alleles of the acidic α-glucosidase gene (GAA) are present in the Droughtmaster breed and, if so, whether the clinical signs and pathology of generalised glycogenosis (Pompe's disease) previously reported in other affected cattle are also seen in homozygous Droughtmasters. DESIGN Existing genomic and other diagnostic tests developed for ge...
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ورودعنوان ژورنال:
- British heart journal
دوره 41 2 شماره
صفحات -
تاریخ انتشار 1979