Congenital Disorders Flashcards
TORCH
Toxoplasmosis Other (syphilis, HIV, Parvovirus B-19, varicella, hepatitis, enterovirus) Rubella Cytomegalovirus Herpes simplex
Toxoplasmosis
Found in cat feces, raw or undercooked meat, contaminated soil or water
IgM anti-toxoplasma antibody at 20-26 weeks (mother)
Treatment: Pyrimethamine & sulfadiazine or Spiramycin
Syphilis
Snuffles: nasal obstruction, intially clear drainage then purulent or red
DX: IgM FTA-ABS (fluorescent treponemal antibody absorption) in newborn blood
Not always positive at first, recheck in 3-4 weeks
TX: PCN G
Monitor for vision, hearing, developmental abnormalities
Clinical manifestations of congenital rubella
purpuric skin lesions (classically described as “blueberry muffin” lesions that represent extramedullary hematopoiesis), hyperbilirubinemia, deafness, cataracts, cardiac malformations
Cytomegalovirus (CMV)
Most common congenital viral infection
Leading cause of sensorineural hearing loss, mental retardation, retinal disease and cerebral palsy.
Small for gestational age, microcephaly, thrombocytopenia, hepatosplenomegaly, hepatitis, intracranial calcifications
Herpes Simplex
Most commonly acquired at the time of birth during transit through the infected birth canal
Transmission more likely if mom is having primary outbreak
Cesarean section often performed to prevent transmission
Treatment with acyclovir
Maternal Medication that causes birth defects
ACEI Anticonvulsant agents Antineoplastic agents Thalidomide, retinoic acid, methylene blue Misoprostol, penicillamine, fluconazole Lithium, isotrentinoin, acitrentin Tetracycline, sulfa meds
VSD
25% of all congenital heart defects
Opening between the right and left ventricles
Some close spontaneously, others need patching, Degree of symptoms correlates with size of the shunt
Fatigue
Diaphoresis with feedings
Poor growth
Pansystolic murmur
PDA
Ductus arteriosus allows blood to flow from the PA to the AO during fetal life
normally closes within the first 24h after birth
Widened pulse pressure
Continuous machine like murmur
Closure with prostaglandin inhibitors such as indomethacin
High O2 sats
Tetralogy of Fallot
VSD, pulmonary stenosis, overriding aorta, right ventricular hypertrophy
Right to left shunt
Tet spells – cyanosis worsens with crying
Hypoxia
Tachypnea
Acyanotic congenital heart disease
Left to right shunts PDA VSD ASD Obstructive lesions
Cyanotic congenital heart disease
Right to left shunt 5 Ts of cyanotic congenital heart disease: Tetralogy of Fallot Transposition of the great arteries Tricuspid atresia Truncus arteriosus Total anomalous pulmonary venous return
Turner Syndrome (XO)
Lymphedema (hands & feets) Webbing of the neck Short stature Multiple pigmented nevi Gonadal dysgenesis
Klinefelter Syndrome (XXY)
Most common congenital abnormality causing primary hypogonadism
Other than thin build and long arms, prepubertal boys have a normal phenotype
Often not detected until about age 15 or 16 when the testes remain small and they lack secondary sexual characteristics
