title: Rare cardiac defect in Holt-Oram syndrome.
abstract: Holt-Oram syndrome is an autosomal dominant condition associated with skeletal malformations of the upper limbs, and congenital heart disease. Approximately 40% of cases represent new mutations. Defective development of the embryonic radial ray (e.g. aplasia, hypoplasia, fusion, other anomalous development) results in a wide spectrum of phenotypes, including triphalangeal or absent thumbs, foreshortened arms and phocomelia. The syndrome is associated with defective development of cardiac structures that results in atrial septal defect (ASD), most commonly the secundum type, heart block of varying degrees, or both. We report a rare cardiac defect patent ductus arteriosus (PDA) and ventricular septal defect (VSD) in a case of Holt-Oram syndrome.
authors.affiliation: Department of Paediatrics, Military Hospital, Pathankot, India. drrahul_2000@yahoo.com
authors.forename: R
authors.initials: R
authors.lastname: Sinha
authors.forename: C
authors.initials: C
authors.lastname: Nema
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D000328:Adult; D004452:Echocardiography; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D006344:Heart Septal Defects, Atrial / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D006345:Heart Septal Defects, Ventricular / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D007231:Infant, Newborn; D038061:Lower Extremity Deformities, Congenital / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D008297:Male; D009154:Mutation / Q000235:genetics; D017689:Polydactyly / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics; D011859:Radiography; D020825:T-Box Domain Proteins / Q000235:genetics; D013933:Thumb / Q000002:abnormalities*; D038062:Upper Extremity Deformities, Congenital / Q000175:diagnosis* / Q000000981:diagnostic imaging / Q000235:genetics
chemical_list: D020825:T-Box Domain Proteins; C103172:T-box transcription factor 5