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Congenital Defects

Transposition of great vessels Maternal diabetes
Aortic insufficiency/aneurysm/dissection Marfan's syndrome
Coarctation of the aorta (preductal) Turner's syndrome
Congenital rubella Patent ductus arteriosus! Septal defects, pulm artery stenosis.
Down syndrome ASD (ostium PRIMUM!), VSD, AV septal defect (endocardial cushion)
Horseshoe kidney - associated with Turner's syndrome
22q11 syndromes (DiGeorge) Truncus arteriosus, tetralogy of Fallot
Cause of most R-->L shunts Failure of neural crest cells to migrate (Tetralogy, Transposition, Truncus)
Clubbing and polycythemia in 5 year old Eisenmenger's syndrome - uncorrected L-->R shunt causing pulm HTN and becoming R-->L shunt. Hypoxemia = ↑EPO.
Boot shaped heart Right ventricular hypertrophy seen in Tetralogy of Fallot
Cause of Tetralogy of Fallot Anteriosuperior displacement of infundibular septum
Left--> Right shunts Septal defects (VSD, ASD) and patent ductus arteriosus (PDA)
TORCHeS: Patent ductus arteriosus Rubella
TORCHeS: Cataracts Rubella
TORCHeS: Chorioretinitis, hydrocephalus, intracranial calcifications Toxoplasma - "Wet, Ret, White"
TORCHeS: Hearing loss, seizures, petechial rash CMV
TORCHeS: Hearing loss, cataracts, PDA Rubella
TORCHeS: Stillbirth Syphilis
TORCHeS: Notched teeth, saddle nose, saber shins, CN VIII deafness Syphilis
TORCHeS: Hydrops fetalis Parvovirus B19 (or syphilis)
Continuous "machine-like" murmur Patent ductus arteriosus
#1 heart defect and cause VSD - caused by fetal alcohol syndrome
Tetralogy of Fallot defects Pulmonary stenosis (prognosis!), RVH, VSD, overriding aorta (overrides VSD)
Teratogen effect: Diethylstilbestrol (DES) Vaginal clear cell adenocarcinoma
Teratogen effect: Phenytoin Fetal hydantoin syndrome: Microcephaly, hypoplastic nails/phalanges, cardiac defects, facial defects
Teratogen effect: Warfarin Bone deformities, fetal hemorrhage, eye problems
Teratogen effect: Cocaine Placental abruption
Maternal diabetes Caudal regression syndrome - anal atresia, sirenomelia (fused legs), transposition of great vessels
Vitamin A excess in pregnancy Extremely high risk of spontaneous abortion, birth defects (cleft palate)
Teratogen effect: Tetracyclines Discolored teeth
Teratogen effect: Lithium Ebstein's abnormality (atrialized left ventricle)
Teratogen effect: Aminoglycosides CN VIII defect - hearing
Cleft lip Failure of fusion of maxillary and medial nasal processes
Cleft palate Failure of fusion of lateral palatine processes, nasal septum, median palatine process
Thyroglossal duct cyst vs branchial cleft cyst Thyroglossal duct cyst (midline) MOVES when swallowing. Branchial cleft cyst (lateral neck) does not.
Omphalocele vs gastroschisis Both are lateral fold closure of abdominal wall. Omphalocele = covered by peritoneum. Gastroschisis is NOT.
Hypospadias Failure of urethral folds to close
Epispadias Faulty positioning of genital tubercle
Potter syndrome Bilateral renal agenesis = Oligohydramnios = ↓lung/face/extremity development
Created by: andrewquis