title: Sudden cardiac arrest in a child with nemaline myopathy.
abstract: BACKGROUND
  Nemaline myopathy is a rare, non progressive congenital skeletal muscle disorder defined by the presence of inclusions known as nemaline rods in muscle fibers. Several clinical subtypes have been described, according to degree of muscle weakness, severity and age at onset. The course of nemaline myopathy is very slowly progressive, and death is usually due to respiratory failure. Cardiac involvement is rare and generally considered to be the result of ACTA1 mutations.
  
  
  METHODS
  We report the case of a 6 year old boy with typical congenital nemaline myopathy. Nemaline myopathy was confirmed at 3 years of age by muscle biopsy. No mutation of ACTA1, TPM2 and TNNT1 genes was detected. The child died suddenly of cardiac arrest and associated hypoxic-ischemic brain injury, in absence of acute respiratory failure or swallowing difficulties.
  
  
  RESULTS
  Nemaline cardiomyopathy was suspected, but post mortem cardiac biopsy did not show findings consistent with nemaline myopathy.
  
  
  CONCLUSIONS
  Congenital typical nemaline myopathy is not necessarily a static or very slowly progressive disorder and acute cardiac deterioration can lead to early death.
authors.affiliation: Neonatal and Pediatric Intensive Care Unit, Department of Pediatrics, University of Messina, Italy, Via Consolare Valeria 1, 98125, Messina, Italy. lmarseglia@unime.it.
authors.forename: Lucia
authors.initials: L
authors.lastname: Marseglia
authors.affiliation: Neonatal and Pediatric Intensive Care Unit, Department of Pediatrics, University of Messina, Italy, Via Consolare Valeria 1, 98125, Messina, Italy. gabridangelo@alice.it.
authors.forename: Gabriella
authors.initials: G
authors.lastname: D'Angelo
authors.affiliation: Unit of Paediatric Genetics and Immunology, Department of Paediatrics, University of Messina, Messina, Italy. saramanti@hotmail.it.
authors.forename: Sara
authors.initials: S
authors.lastname: Manti
authors.affiliation: Unit of Paediatric Genetics and Immunology, Department of Paediatrics, University of Messina, Messina, Italy. salpietroenzo@yahoo.it.
authors.forename: Vincenzo
authors.initials: V
authors.lastname: Salpietro
authors.affiliation: Unit of Paediatric Genetics and Immunology, Department of Paediatrics, University of Messina, Messina, Italy. tarrigo@unime.it.
authors.forename: Teresa
authors.initials: T
authors.lastname: Arrigo
authors.affiliation: Ultrastructural Pathology Unit, University of Messina, Messina, Italy. vcavallari@unime.it.
authors.forename: Vittorio
authors.initials: V
authors.lastname: Cavallari
authors.affiliation: Neonatal and Pediatric Intensive Care Unit, Department of Pediatrics, University of Messina, Italy, Via Consolare Valeria 1, 98125, Messina, Italy. egitto@unime.it.
authors.forename: Eloisa
authors.initials: E
authors.lastname: Gitto
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging; D002648:Child; D016757:Death, Sudden, Cardiac / Q000209:etiology*; D018450:Disease Progression; D017809:Fatal Outcome; D006801:Humans; D020925:Hypoxia-Ischemia, Brain / Q000000981:diagnostic imaging / Q000209:etiology; D008297:Male; D017696:Myopathies, Nemaline / Q000150:complications* / Q000175:diagnosis; D011379:Prognosis; D014057:Tomography, X-Ray Computed