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Abstract Inborn errors of metabolism are individually rare but account for up to 10% of all childhood cardiomyopathies. This group of diseases is extremely heterogeneous in terms of age of… Click to show full abstract
Abstract Inborn errors of metabolism are individually rare but account for up to 10% of all childhood cardiomyopathies. This group of diseases is extremely heterogeneous in terms of age of onset, presentation and natural history. This review highlights ‘red flags’ in the presentation, examination or investigations of patients with metabolic storage or mitochondrial disease that can identify particular aetiologies and guide further investigations and management.
Keywords:
cardiology;
cardiomyopathies children;
disease;
children mitochondrial;
mitochondrial storage;
storage disease
Journal Title: Progress in Pediatric Cardiology
Year Published: 2018
Link to full text (if available)
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Journal Title: Progress in Pediatric Cardiology
Year Published: 2018
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!