Neonatal hypertrophic cardiomyopathy

• [PDF File]LETTER TO JMG Two cases of severe neonatal hypertrophic …

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  LETTER TO JMG Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene R H Lekanne Deprez*, J J Muurling-Vlietman*, J Hruda, M J H Baars,

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• [PDF File]2014 ESC Guidelines on diagnosis and management of …

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  2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: web addenda The Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC) Authors/Task Force Members: Perry M. Elliott* (Chairperson) (UK), Aris Anastasakis

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• [PDF File]Mybpc3 gene therapy for neonatal cardiomyopathy enables long …

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  Mybpc3 gene therapy for neonatal cardiomyopathy enables long-term disease prevention in mice Giulia Mearini 1,2, *, Doreen Stimpel 1,2, *, Birgit Geertz 1,2 , Florian Weinberger 1,2 , Elisabeth ...

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• [PDF File]Hypertrophic Cardiomyopathy in Infants and Children

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  hypertrophic cardiomyopathy, is the most frequent monogenic disorder in cardiolog y and the commonest cause of sudden death in youngsters in either form of presentation (J. Seidman & C. Seidman, 2001). Regardless of the presence or absence of obstruction, hypertrophic cardiomyopathy is classified into two main groups, familial and non-familial . (Table 3) The latter comprises 4 subgroups: …

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• Neonatal Hypertrophic Cardiomyopathy In An Infant With …

  Neonatal Hypertrophic Cardiomyopathy In An Infant With Osteogenesis Imperfecta Type I. The Internet Journal of Cardiology. 2001 Volume 1 Number 2. Abstract We report an association between neonatal hypertrophic cardiomyopathy and osteogenesis imperfecta type I. A preterm infant with cardiorespiratory distress was noted to have severe ...

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• [PDF File]Severe neonatal hypertrophic obstructive cardiomyopathy

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  Beckwith-Wiedemann syndrome, and hypertrophic obstructive cardiomyopathy seen in infants of diabe-tic mothers. The latter is the most common diagno-sis, and also the only one with a favorable outcome. The overall mortality of hypertrophic cardiomyopathy is approximately 1% per year. The highest mortality DISCUSSION

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• [PDF File]Resolution of Neonatal Hypertrophic Cardiomyopathy Presumed …

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  hypertrophic cardiomyopathy neonatal lupus anti-RNP and anti-Sm antibodies maternal transmission Abstract Severe asymmetrical hypertrophic cardiomyopathy without heart block accompanied by ...

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• Modeling Hypertrophic Cardiomyopathy in Neonatal …

  to encapsulate neonatal rat ventricular cardiomyocytes (NRVMs) in a single plane, and cell health was assessed. In parallel, recombinant adenoviruses containing the mutations responsible for human hypertrophic cardiomyopathy (HCM) in the beta myosin gene (R403Q and R453C) were generated and used as a tool to study the acute effects of HCM ...

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• [PDF File]CAUSES OF HYPERTROPHIC CARDIOMYOPATHY

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  hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, skeletal myopathy and mental retardation.9 The exact prevalence is unknown, although LAMP-2 mutations were noted in 1% of cases of HCM.9 Lysosomal storage disorders Fabry disease An X-linked disorder, caused by mutations of the alpha-galactosidase A gene.10 Fabry disease is a rare ...

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• [PDF File]Homozygosity for a Novel Splice Site Mutation in the Cardiac …

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  for a novel splice site mutation in the cardiac myosin-binding protein C gene causes severe neonatal hypertrophic cardiomyopathy. Am J Med Genet Part A 143A:2662–2667. INTRODUCTION Hypertrophic cardiomyopathy, clinically defined as thickening of the myocardial wall in the absence of other causes for left ventricular hypertrophy,

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