Key result
A distal 5q deletion including the CSX locus was identified in a 7.5-year-old girl, suggesting haploinsufficiency of CSX may cause ventricular myocardial noncompaction.
Case Report (n=1)
Haploinsufficiency of the CSX gene due to a distal 5q deletion may be a genetic cause of ventricular myocardial noncompaction.
May warrant CSX evaluation in noncompaction; hypothesis-generating and requires replication before practice change.
We describe a 7 1/2-year-old girl with mildly unusual phenotype and complex heart disease including ventricular myocardial noncompaction. She was found to have a distal 5q deletion, del(5)(q35.1q35.3). Fluorescent in situ hybridization showed that this deletion included the locus for the cardiac specific homeobox gene, CSX. This suggests that some instances of ventricular myocardial noncompaction may be caused by haploinsufficiency of CSX.
No takes yet. Share an insight, caveat, or question.
Pauli et al. (1999) conducted a case report in Ventricular myocardial noncompaction (n=1). Distal 5q deletion (del(5)(q35.1q35.3)) was evaluated. A distal 5q deletion including the CSX locus was identified in a 7.5-year-old girl, suggesting haploinsufficiency of CSX may cause ventricular myocardial noncompaction.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: