title: Cardiac function in types II and III spinal muscular atrophy: should we change standards of care?
abstract: OBJECTIVE
  In the last years, there has been increasing evidence of cardiac involvement in spinal muscular atrophy (SMA). Autonomic dysfunction has been reported in animal models and in several patients with types I and III SMA, these findings raising the question whether heart rate should be routinely investigated in all SMA patients. The aim of our study was to detect possible signs of autonomic dysfunction and, more generally, of cardiac involvement in types II and III SMA.
  
  
  METHODS
  We retrospectively reviewed 24-hour electrocardiography (ECG) in 157 types II and III SMA patients (age range, 2-74 years). Of them, 82 also had echocardiography.
  
  
  RESULTS
  None of the patients had signs of bradycardia, atrial fibrillation, or the other previously reported rhythm disturbances regardless of the age at examination or the type of SMA. Echocardiography was also normal. There were no signs of congenital cardiac defects with the exception of one patient with a history of ventricular septal defects.
  
  
  CONCLUSIONS
  Our results suggest that cardiac abnormalities are not common in type II and type III SMA. These findings provide no evidence to support a more accurate cardiac surveillance or changes in the existing standards of care.
authors.affiliation: Department of Paediatric Neurology, Catholic University, Rome, Italy.
authors.forename: Flaviana
authors.initials: F
authors.lastname: Bianco
authors.affiliation: Department of Paediatric Neurology, Catholic University, Rome, Italy.
authors.forename: Marika
authors.initials: M
authors.lastname: Pane
authors.affiliation: Department of Laboratory Medicine, Unit of Molecular Medicine, Bambino Gesù Hospital, Rome, Italy.
authors.forename: Adele
authors.initials: A
authors.lastname: D'Amico
authors.affiliation: Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy.
authors.forename: Sonia
authors.initials: S
authors.lastname: Messina
authors.affiliation: Department of Paediatric Neurology, Catholic University, Rome, Italy.
authors.forename: Angelica Bibiana
authors.initials: AB
authors.lastname: Delogu
authors.affiliation: Department of Neurosciences and Psychiatry and Anaesthesiology, University of Padoa, Padoa, Italy.
authors.forename: Gianni
authors.initials: G
authors.lastname: Soraru
authors.affiliation: Department of Paediatric Neurology, Catholic University, Rome, Italy.
authors.forename: Maria Carmela
authors.initials: MC
authors.lastname: Pera
authors.affiliation: Neuromuscular Center, S.G. Battista Hospital, University of Turin, Turin, Italy.
authors.forename: Tiziana
authors.initials: T
authors.lastname: Mongini
authors.affiliation: Department of Experimental Medicine, Cardiomiology and Medical Genetics, Second University of Naples, Naples, Italy.
authors.forename: Luisa
authors.initials: L
authors.lastname: Politano
authors.affiliation: Developmental Neurology Unit, Neurological Institute C. Besta, Milan, Italy.
authors.forename: Giovanni
authors.initials: G
authors.lastname: Baranello
authors.affiliation: Department of Neurosciences, Psychiatry and Anaesthesiology, University of Messina, Messina, Italy.
authors.forename: Gianluca
authors.initials: G
authors.lastname: Vita
authors.affiliation: Medical Genetics Institute, Catholic University, Rome, Italy.
authors.forename: Francesco Danilo
authors.initials: FD
authors.lastname: Tiziano
authors.affiliation: Department of Myopathology and Neuroimmunolgy, Pediatric Neurology and Neuroradiology Units, Neurological Institute C. Besta, Milan, Italy.
authors.forename: Lucia
authors.initials: L
authors.lastname: Morandi
authors.affiliation: Department of Laboratory Medicine, Unit of Molecular Medicine, Bambino Gesù Hospital, Rome, Italy.
authors.forename: Enrico
authors.initials: E
authors.lastname: Bertini
authors.affiliation: Department of Paediatric Neurology, Catholic University, Rome, Italy.
authors.forename: Eugenio
authors.initials: E
authors.lastname: Mercuri
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D004562:Electrocardiography; D005260:Female; D006331:Heart Diseases / Q000175:diagnosis* / Q000209:etiology*; D006801:Humans; D008297:Male; D008875:Middle Aged; D014897:Spinal Muscular Atrophies of Childhood / Q000150:complications*; D055815:Young Adult