Congenital Disorders Flashcards
Know all the cards!!!
What does TORCH stand for?
toxoplasmosis, other, rubella, CMV, herpes simplex
Bug found in cat feces, raw or undercooked meat, contaminated soil or water
toxoplasma gondii
Maternal sx include: fatigue, fever, headache, malaise, and myalgia
toxoplasmosis
Neonate sx include: fever, maculopapular rash, hepatosplenomegaly, microcephaly, seizures, jaundice, thrombocytopenia, and, rarely, generalized lymphadenopathy
toxoplasmosis
Classic triad of congenital toxoplasmosis
chorioretinitis,hydrocephalus, and intracranial calcifications
Infections that are included in the “other” classification of TORCH
HIV, parvovirus B-19, varicella, hepatitis B, syphilis
Bug responsible for causing syphilis
Treponema pallidum
Neonate/childhood manifestations of infection include rash, osteochondritis, liver/lung fibrosis, interstitial keratitis, hutchinson teeth, CN VIII deafness
congenital syphilis
Clinical manifestations include: deafness, cataracts, cardiac manifestations, blueberry muffin lesions, hepatosplenomegaly, growth retardation
congenital rubella
Most common congenital viral infection
CMV (40,000 per year)
Leading cause of sensorineural hearing loss, mental retardation, retinal disease and cerebral palsy.
congential CMV
Congenital infection most commonly acquired at the time of birth if mom is having primary outbreak. C-section to prevent transmission
Herpes Simplex
Percentage of infants who acquire HSV born to mothers with no previous history or clinical findings of HSV
75%
Treatment of congenital HSV
acyclovir
Clinical manifestations include: cutanteous scars, cataracts, chorioretinitis, nystagmus, hypoplastic limbs, cortical atrophy, seizures
congenital varicella
Syndrome characterized by low IQ, small for gestational age, learning/behavorial difficulties, facial dysmorphism
fetal alcohol syndrome
Common meds that are teratogens
ACEI, tetracycline, sulfas, fluconazole, anticonvulsants
Common maternal medical disorders that can cause birth defects
DM, PKU, Lupus, HTN, hypothyroidism
All of the following have what in common: amniotic bands, too little/much amniotic fluid, position of fetus, uterine fibroids, placental issues
they are mechanical forces taht may cause congenital defects
Sx of this defect include: fatigue, diaphoresis w/feeding, poor growth, pansystolic murmur
VSD
Why might a VSD be asymptomatic at birth?
due to normally elevated pulmonary vascular resistance but as the PAP decreases, the amount of left to right shunt increases
This defect is usually asymptomatic. Soft systolic ejection murmur, fixed split S2.
ASD
Sx of this defect include widened pulse pressure, machine like murmur
PDA
Tx of PDA if it fails to close within 24 hrs
prostaglandin inhibitors (indomethacin) or catheter based intervention
Defect that is often associated with other heart abnormalities and occurs where the ductus arteriosis inserts into the aorta
coarctation of the aorta
Tx of coarctation of the aorta
keep ductus arteriosus patent until surgery
Components of tetralogy of Fallot
VSD, pulmonary stenosis, overriding aorta, right ventricular hypertrophy
Sx of this defect include harsh systolic ejection murmur, hypoxia, cyanosis, tachypnea
Tetrology of fallot
term for cyanosis that worsens with crying, toddlers will squat to relieve symptoms, may have syncope, hemiparesis, seizures or death may occur
tet spells
Most common abnormality of chromosomal number
Trisomy 21 (1:800)
40% have congenital heart defects and 20X increased risk of leukemia
Trisomy 21
Most common characteristic of Down Syndrome
mental retardation with IQs mostly between 40-50
Chromosomal defect with multiple dysmorphic features. Most die of heart failure or infection in infancy or by the second year of life
Trisomy 13
Syndrome characterized by hypoplasia of the thymus and/or parathyroid gland, conotruncal cardiac defects, facial dysmorphism
Deletion 22q11 Syndrome
Clinical manifestations include neonatal hypocalcemia, increased infectsion and predisposition to autoimmune diseases
Deletion 22q11 Syndrome
Clinical manifestions include lymphedema, webbing of neck, short sature, multiple pigmented nevi, gonadal dysgenesis
Turner Syndrome (XO)
Tx for Turner Syndrome
Estrogen replacement therapy, Growth hormone therapy
Most common congenital abnormality causing primary hypogonadism
klinefelter syndrome
Sx include: absent frontal baldness, wide hips, narrow shoulders, female-type pubic hair pattern, long arms/legs, small testis
Klinefelter’s
Mutation of DNA that codes for a protein helps plays a role in the development of synapses
Fragile X syndrome
Disease of the exocrine gland system. Defective chloride channel results in highly viscous secretions and abnormal mucociliary clearance
Cystic Fibrosis
Chronic progressive genetic disorder of the body’s mucus glands. Affects the respiratory and digestive systems in children and young adults
Cystic Fibrosis
Clinical manifestations include cough, nasal polyps, recurrent chest infections, intussception, rectal prolaspe, meconium ileus
Cystic fibrosis
Gold standard test for cystic fibrosis
sweat test
Caused by a mutation in the FBN1 gene that determines the structure of fibrillin
Marfan’s
Clinical presentation includes flat feet, scoliosis, long/skinny fingers and toes, stretch marks, hyperflexible joints
Marfan’s
Most common amino acid metabolism disorder. Decreased activity of phenylalanine hydroxylase
Phenylketonuria (PKU)
Clinical presentation includes: hypopigmentation, tremors, hypertonicity, seizures, mental retardation
Phenylketonuria (PKU)
Tx for PKU
Restriction of foods high in Phenylalanine, avoid aspartame, supplementation of tyrosine
Deficiency of galactose-1-phosphate uridyltransferase leading to buildup of unmetabolized galactose
Galactosemia
Clinical presentation includes: Hepatomegaly
Vomiting, anorexia
Growth failure, Aminoaciduria
galactosemia
What happens if a galactosemic patient is given milk?
unmetabolized milk sugars build up and damage liver, eyes, kidneys, brain
Name the two major types of neural tube defects
anecephaly (no cranium) and meningomyelocele (spina bifida)
Highest incidence in Asian and Native American popns. 2:1 male-female ratio
Cleft lip with/without cleft palate
Clinical presentation includes: muscle spasticity, dyskinesia, ataxia, epilepsy, mental retardation
cerebral palsy
