Congenital heart defects in spinal muscular atrophy type I: a clinical report of two siblings and a review of the literature.
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.
Menke
Leonie A
LA
Department of Pediatric Genetics, Academic Medical Center, Amsterdam, The Netherlands.
Poll-The
Bwee Tien
BT
Clur
Sally-Ann
SA
Bilardo
Catia M
CM
van der Wal
Allard C
AC
Lemmink
Henny H
HH
Cobben
Jan Maarten
JM
D037881:Aborted Fetus; D017809:Fatal Outcome; D005260:Female; D006330:Heart Defects, Congenital / Q000150:complications*; D006801:Humans; D007231:Infant, Newborn; D011247:Pregnancy; D035781:Siblings; D014897:Spinal Muscular Atrophies of Childhood / Q000150:complications*