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Congenital Defects
| Question | Answer |
|---|---|
| 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