New referrals to centres dealing with congenital cardiac malformations are increasing alarmingly, with the majority of the children referred having normal hearts. This increase in demand for specialist services has important implications for resources and training.
We describe two neonates presenting with myocardial infarction, due to two different aetiologies of this extremely rare but potentially treatable condition, and discuss the management. One neonate had myocardial infarction complicating enteroviral myocarditis and recovered completely. The second had fatal myocardial infarction due to thrombosis of the left coronary artery. Although rare, the attending paediatrician should have a high index of suspicion when evaluating a neonate with acute onset of collapse. Electrocardiographic changes are diagnostic, but further echocardiographic assessment and prompt management at a tertiary cardiac centre are advised.
We describe an occurrence of long QT syndrome in association with persistent patency of the arterial duct in members of a family. Patency of the arterial duct was diagnosed in family members of 4 successive generations. The index case had long QT syndrome associated with such a patent duct. Another patient had long QT syndrome, but associated with a ventricular septal defect. We postulate that there may be a common genetic mechanism for long QT syndrome and persistent patency of the arterial duct.
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.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.