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Congenital heart defects in spinal muscular atrophy type I: A clinical report of two siblings and a review of the literature
Author(s) -
Menke Leonie A.,
PollThe Bwee Tien,
Clur SallyAnn,
Bilardo Catia M.,
van der Wal Allard C.,
Lemmink Henny H.,
Cobben Jan Maarten
Publication year - 2008
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.32233
Subject(s) - smn1 , sma* , spinal muscular atrophy , muscle contracture , medicine , cardiology , anatomy , mathematics , disease , combinatorics
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.