title: [Complex cyanotic heart defect in a newborn infant with cat eye syndrome].
abstract: In a cyanotic newborn with characteristic features of Cat-Eye-Syndrome, cytogenetic examination disclosed a supernumerary small bisatellited chromosome. Angiography showed Tetralogy of Fallot with pulmonary atresia and a narrow patent ductus arteriosus with additional stenosis of the bifurcation of the pulmonary artery. At an age of 14 weeks, the patient died after the attempt of corrective cardiac surgery. Congenital cardiac malformation is present in more than one third of patients with cat-eye-syndrome and is usually the lifelimiting malformation in this syndrome.
authors.affiliation: Abteilung Kinderheikunde III, Medizinische Hochschule Hannover.
authors.forename: T
authors.initials: T
authors.lastname: Paul
authors.forename: A
authors.initials: A
authors.lastname: Reimer
authors.forename: M
authors.initials: M
authors.lastname: Wilken
authors.forename: K
authors.initials: K
authors.lastname: Miller
authors.forename: H C
authors.initials: HC
authors.lastname: Kallfelz
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D002869:Chromosome Aberrations / Q000235:genetics*; D025063:Chromosome Disorders; D002904:Chromosomes, Human, 21-22 and Y; D004431:Ear, External / Q000002:abnormalities*; D005124:Eye Abnormalities / Q000235:genetics*; D005260:Female; D006330:Heart Defects, Congenital / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D013577:Syndrome
vernacular_title: Komplexer zyanotischer Herzfehler bei einem Neugeborenen mit einem Cat-Eye-Syndrom.