A B S T R A C TGlycogen storage disease type II (also called Pompe's disease or acid maltase deficiency) is an autosomal recessive metabolic disorder which causes an accumulation of glycogen in the lysosomes due to deficiency of the lysosomal acid alpha-glucosidase enzyme. It is the only glycogen storage disease with a defect in lysosomal metabolism, and the first glycogen storage disease to be identified in 1932. The build-up of glycogen causes progressive muscle weakness (myopathy) throughout the body and affects various body tissues, particularly in the heart, skeletal muscles, liver, and nervous system.We are presenting two cases of infantile form of Pompe's disease with secondary hypertrophic cardiomyopathy (CMP). The first case was a 1-year-old female child who presented with Ross Class III heart failure (HF) of 3 months duration. Echocardiography (ECHO) showed concentric left ventricular (LV) hypertrophy, with the posterobasal segment more hypertrophic than the interventricular septum and moderate pericardial effusion. The second case was a 2-month-old male child who presented with Ross Class II HF. His ECHO showed eccentric hypertrophy of the posterobasal left ventricle, with thickening of the mitral valve leaflets and the chordae with Grade I mitral regurgitation (MR). Both children were diagnosed to have Pompe's disease by blood alphaglucosidase assay.
An echocardiographic investigation is one of the key modalities of diagnosis in patients suffering from COVID 19, especially if they are elderly, have associated comorbid conditions, and pregnant. Hence, it is becoming extremely essential to look into the correct safety precautions, health-care professionals must take while conducting an echo investigation. At the same time, a focused echo examination aimed at correct imaging view acquisition in the shortest possible time is the need of the hour. The decision matrix formulated for conducting an echocardiographic evaluation is based on the presence or absence of cardiological comorbidity vis-a-vis positive or suspected for COVID- 19. The safety measures and image acquisition have been constructed keeping in mind the current safety precautions by the World Health Organization, the Centers for Disease Control and Prevention, and the Ministry of Health and Family Welfare, India.
Cardiovasc. j. 2020; 13(1): 97-101
We present a case of arrhythmogenic right ventricular cardiomyopathy (ARVC)-Naxos disease. The patient is 21-year-old male with no history of previous heart disease admitted in a private hospital for rhythm disorder in heart. The condition was diagnosed as ventricular tachycardia (VT) and was treated with cardioversion. The patient was referred to our hospital for further evaluation. On examination patient had palmoplantar keratoderma, wooly hair, and dystrophic nails. The cardiovascular system examination was clinically normal. His electrocardiogram showed epsilon wave in lead V1; echocardiography showed hypo-echogenic tissues in the right ventricular (RV) apex and free wall; magnetic resonance imaging (MRI) investigation revealed fibrofatty replacement of RV free wall and dyskinetic RV wall with diastolic outbulging.
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