TY - JOUR
T1 - Congenital heart defects in spinal muscular atrophy type I: A clinical report of two siblings and a review of the literature
AU - Menke, Leonie A.
AU - Poll-The, Bwee Tien
AU - Clur, Sally-Ann
AU - Bilardo, Catia M.
AU - van der Wal, Allard C.
AU - Lemmink, Henny H.
AU - Cobben, Jan Maarten
PY - 2008
Y1 - 2008
N2 - A newborn girl presented with asphyxia, joint contractures and diminished spontaneous movements. Echocardiography showed hypoplastic left heart. Spinal muscular atrophy type I (SMA I) was diagnosed by detecting a homozygous deletion in the survival motor neuron 1 gene (SMN1). In the first trimester of a subsequent pregnancy, SMA I, hypoplastic left heart, and contractures were identified again. Congenital heart defects (CHD) have now been reported in 20 patients with SMA I, including three previously reported siblings and our two siblings, leading us to hypothesize that SMA I/CHD represents a unique phenotype of SMA I rather than a coincidental association. The homozygous SMN1 deletion may play a role in the development of CHD when it occurs in the presence of mutations or polymorphisms in other genes important for cardiac development. © 2008 Wiley-Liss, Inc.
AB - A newborn girl presented with asphyxia, joint contractures and diminished spontaneous movements. Echocardiography showed hypoplastic left heart. Spinal muscular atrophy type I (SMA I) was diagnosed by detecting a homozygous deletion in the survival motor neuron 1 gene (SMN1). In the first trimester of a subsequent pregnancy, SMA I, hypoplastic left heart, and contractures were identified again. Congenital heart defects (CHD) have now been reported in 20 patients with SMA I, including three previously reported siblings and our two siblings, leading us to hypothesize that SMA I/CHD represents a unique phenotype of SMA I rather than a coincidental association. The homozygous SMN1 deletion may play a role in the development of CHD when it occurs in the presence of mutations or polymorphisms in other genes important for cardiac development. © 2008 Wiley-Liss, Inc.
UR - https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=40449084094&origin=inward
UR - https://www.ncbi.nlm.nih.gov/pubmed/18266240
U2 - https://doi.org/10.1002/ajmg.a.32233
DO - https://doi.org/10.1002/ajmg.a.32233
M3 - Article
C2 - 18266240
SN - 1552-4825
VL - 146
SP - 740
EP - 744
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 6
ER -