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An infant with hypoplastic left heart syndrome and spinal muscular atrophy

Published online by Cambridge University Press:  03 February 2006

Amanda L. Cook ,
Christopher L. Curzon  and
Angelo S. Milazzo
Amanda L. Cook
Affiliation:
Division of Pediatric Cardiology, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, United States of America
Christopher L. Curzon
Affiliation:
Division of Pediatric Cardiology, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, United States of America
Angelo S. Milazzo
Affiliation:
Division of Pediatric Cardiology, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, United States of America
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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.

Keywords

Congenital heart disease, genetic syndromes, functionally single ventricle
Type
Brief Report
Information
Cardiology in the Young , Volume 16 , Issue 1 , January 2006 , pp. 78 - 80
Copyright
© 2006 Cambridge University Press

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References

Natowicz M, Chatten J, Clancy R. Genetic disorders and major extracardiac anomalies associated with the hypoplastic left heart syndrome. Pediatrics 1988; 82: 698–706.Google Scholar
Munsat TL. Workshop report: International SMA Collaboration. Neuromuscul Disord 1991; 1: 81.Google Scholar
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.Google Scholar
Emery AEH. The nosology of the spinal muscular atrophies. J Med Genet 1971; 8: 481–495.Google Scholar
Pearn J. Incidence, prevalence, and gene frequency studies of chronic childhood spinal muscular atrophy. J Med Genet 1978; 15: 409–413.Google Scholar
Brownell LG, Shokeir MHK. Inheritance of hypoplastic left heart syndrome (HLHS): Further observations. Clin Genet 1976; 9: 245–249.Google Scholar
Kojima H, Ogimi Y, Mizutani K, Nishimura Y. Hypoplastic left heart syndrome in siblings. Lancet 1969; 2: 701.Google Scholar
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.Google Scholar
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.Google Scholar
Grossfeld PD. The genetics of hypoplastic left heart syndrome. Cardiol Young 1999; 9: 627–632.Google Scholar