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An infant with hypoplastic left heart syndrome and spinal muscular atrophy

  • Amanda L. Cook (a1), Christopher L. Curzon (a1) and Angelo S. Milazzo (a1)
Abstract

We report an infant with hypoplastic left heart syndrome consisting of mitral valvar atresia, aortic valvar atresia, hypoplasia of the aortic arch and coarctation of the aorta, who demonstrated respiratory failure and global hypotonia, and who was eventually diagnosed with spinal muscular atrophy.

Copyright
© 2006 Cambridge University Press
Corresponding author
Correspondence to: Angelo S. Milazzo MD, Duke Children's Cardiology, Division of Pediatric Cardiology, Department of Pediatrics, Duke University Medical Center, 3713 Benson Drive, Suite 202, Raleigh, NC 27609, USA. Tel: +1 919 855 8991; Fax: +1 919 855 9881; E-mail: dccr@mc.duke.edu (Use christopher.curzon@duke.edu if any problems with the above address)
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References

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Cussin V, Clermont O, Gerard B, Chantereau D, Elion J. Prevalence of SMN 1 deletion and duplication in carrier and normal populations: implication for genetic counseling. J Med Genet 2003; 40: e39.
Emery AEH. The nosology of the spinal muscular atrophies. J Med Genet 1971; 8: 481–495.
Pearn J. Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. J Med Genet 1978; 15: 409–413.
Brownell LG, Shokeir MHK. Inheritance of hypoplastic left heart syndrome (HLHS): Further observations. Clin Genet 1976; 9: 245–249.
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Rodriguez NR, Owen N, Talbot K, Ignatius J, Dubowitz V, Davies KE. Deletions in the survival motor neuron gene on autosomal recessive spinal muscular atrophy. Hum Mol Genet 1995; 4: 631–634.
Brenner JI, Berg KA, Schneider DS, Clark EB, Boughman JA. Cardiac malformations in relatives of infants with hypoplastic left heart syndrome. Am J Dis Child 1989; 143: 1492–1494.
Grossfeld PD. The genetics of hypoplastic left heart syndrome. Cardiol Young 1999; 9: 627–632.
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Cardiology in the Young
  • ISSN: 1047-9511
  • EISSN: 1467-1107
  • URL: /core/journals/cardiology-in-the-young
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