Fresh fields and pathways new: recent genetic insights into cardiac malformation.
Cardiovascular malformations are the most common type of birth defect. Currently, only a fraction of cases have associated causative factors and little is known about the aetiology of the rest. Despite this, our understanding of normal and abnormal heart development continues to grow, a number of recent discoveries even challenging long-held concepts. In this review, we highlight some of this new knowledge, emphasising aspects that may be of interest to the clinician.
Leong
F T
FT
Department of Cardiology, Papworth Hospital, Papworth Everad, Cambridge, UK. f.t.leong@gmx.com
Freeman
L J
LJ
Keavney
B D
BD
D002869:Chromosome Aberrations; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics; D004062:DiGeorge Syndrome / Q000235:genetics; D006330:Heart Defects, Congenital / Q000235:genetics*; D006344:Heart Septal Defects, Atrial / Q000235:genetics; D000072576:Homeobox Protein Nkx-2.5; D018398:Homeodomain Proteins / Q000235:genetics; D006801:Humans; D009154:Mutation; D013577:Syndrome; D020825:T-Box Domain Proteins / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics
D000072576:Homeobox Protein Nkx-2.5; D018398:Homeodomain Proteins; C095552:NKX2-5 protein, human; D020825:T-Box Domain Proteins; C103172:T-box transcription factor 5; D014157:Transcription Factors