BRS #3 Flashcards
children who grow _______ per year between age 3 and puberty usually do not have an endocrinopathy or underlying pathologic disorder
2 inches (5 cm) per year
define short stature
height that is 2 SDs below the mean (below 3rd percentile)
all patients more than _____ SDs below the man or who have a growth velocity less than _____ per year have a pathologic growth disorder until proven otherwise
3 SDs
5 cm/year
hypoglycemia, prolonged jaundice, cryptorchidism, microphallus, short stature
hypopituitarism
male mid parental height
(father’s height + mother’s height + 5 inches)/2
female mid parental height
(father’s height - 5 + mother’s height)/2
2 classes of drugs that can cause short stature
steroids, stimulants
define upper and lower segment
what are normal U/L ratios
lower segment = pubic symphysis to the heel
upper segment = total height - lower segment
birth = 1.7
age 3 = 1.3
> age 7 = 1.0
2 types of normal variant short stature
- familial short stature- 2 SDs below the mean with short MPH but with normal bone age, normal onset of puberty, normal growth of 2 inches/year
- constitutional growth delay - 2 SDs below the mean with h/o delayed puberty in either/both parents, delayed bone age, late onset of puberty, normal growth of 2 inches/year
define pathologic short stature
height less than 3 SDs below the mean with abnormal growth velocity
causes of pathologic proportionate short stature
prenatal onset: environmental causes, chromosomal disorders, genetic syndromes, viral infection
postnatal onset: malnutrition, cyanotic heart disease, renal disease, GI disease, pulmonary disease, endocrine disease, psychosocial (ex. neglect)
2 causes of pathologic disproportionate short stature (very short legged with increased U/L ratio)
rickets
skeletal dysplasias
frontal bossing, bowed legs, low serum phosphorus, high serum alkaline phosphatase
rickets
short people with short limbs
achondroplasia
initial labs for short stature workup
CBC, ESR, T4, electrolytes including Ca and phosphorus, Cr, bicarbonate, IGF-1
initial imaging for short stature workup
bone age determination
AP and lateral skull radiographs to see if sella looks weird
conditions in which bone age = chronological age
familial short stature
IUGR
Turner syndrome
skeletal dysplasia
conditions in which bone age < chronological age
constitutional short stature hypothyroidism hypercortisolism GH deficiency chronic diseases
prolonged neonatal juandice hypoglycemia cherubic facies central obesity microphallus cryptorchidism midline defects poor growth velocity
GH deficiency
__________ must be considered in any child > 5 years of ae who is not growing 2 inches per year
craniopharyngioma
all patients with GH deficiency should have this done
MRI of the head
how to dx GH deficiency
low IGF-1 levels
poor response on GH stimulation testing
tx of GH deficiency
daily subcutaneous injections of GH until max growth potential (age 13-14 in girls, 15-16 in boys)
most common cause of hypothyroidism in kids is ________
how do you dx it?
Hashimoto’s thyroiditis
-increased TSH, low T4, positive antithyroid peroxidase antibodies
most common cause of hypercortisolism that results in short stature is ______
iatrogenic use of steroids
________ has been shown to improve ultimate height of Turner patients
GH treatment
onset of puberty is between _____ and ______ in females
7 and 13
thelarche occurs due to this hormone
adrenarche occurs due to this hormone
estrogen
adrenal androgens
in females, ______ and usually the first sign of puberty
breast buds
menarche has mean onset at age _____
12.5
_____ stimulates ovaries to produce follicles, which in turn produce estrogen
TSH
_____ is responsible for the positive feedback in the middle of the menstrual cycle resulting in the release of an egg
LH
male puberty onset is between ____ and ______ years
9 and 14
____ is usually the first sign of male puberty
testicular enlargement
_____ stimulates the seminiferous tubules in the testes to produce sperm
FSH
______ in boys stimulates the testicular Leydig cells to produce androgens, which in turn are responsible for penile enlargement and growth of axially, facial, and pubic hair
LH
precocious puberty in girls and boys
girls: breast or pubic hair before age 7 or menarche before age 9
boys: testicular changes, penile enlargement, or pubic or axillary hair before age 9
premature thelarche is a big red flag (T/F)
F
it is common and benign, usually present in first 2 years of life
-caused by transient activation of the HPGA
-no workup or tx is necessary
early onset of pubic or axillary hair w/o development of breast tissue or enlarged testes
- this condition is more common in ____ (boys/girls)
- can have apocrine odor
- tx?
premature adrenarche
girls
no tx needed
_____ (girls/boys) have a higher incidence of isosexual precocious puberty
girls
isosexual precocious puberty or central precocious puberty (CPP) in boys and girls
boys: testicular enlargement, pubic hair, rapid growth
girls: breast development, pubic hair, rapid growth
causes of central precocious puberty in girls and boys
girls: mostly idiopathic
boys: tends to be organic –> evaluate all cases with head MRI (ex. hydrocephalus, CNS infection, CP, malignant tumors, severe head trauma)
central precocious puberty, poor growth, delayed bone age
hypothyroidism
GnRH stimulation test in CPP vs. PPP
give synthetic GnRH
- CPP: dramatic increase in LH
- PPP: flat response
PPP (peripheral precocious puberty) in boys and girls
boys: feminization (gynecomastia), premature onset of pubic hair
girls: virilization or breast development
- PPP is independent of the HPGA
there is usually no testicular enlargement in PPP except for the following 3 things
McCune-Albright syndrome
testotoxicosis
beta-HCG secreting tumors
bony changes (polyostotic fibrous dysplasia)
coast of Maine cafe au lait spots
PPP or hyperthyroidism
McCune-Albright syndrome
-enlarged gonads but secretion of sex steroids is independent of the HPGA
testes enlarge bilaterally independent of the HPGA
testotoxicosis
how does beta-HCG secreting tumor cause PPP?
beta-HCG looks like LH so it binds to LH receptor and enlarges the testes, stimulating Leydig cells and secreting androgens
delayed puberty definition in boys and girls
boys- no testicular enlargement by age 14
girls- no breast tissue by age 13, no menarche by 14 years
constitutional delay of puberty is much more common in _____ (boys/girls)
boys
isolated gonadotropin deficiency associated with anosmia (inability to smell)
kallman syndrome
obesity, retinitis pigmentosa, hypogonadism, polysyndactyly
lawrence-moon-biedl syndrome
causes of hypergonadotropic hypogonadism (high FSH and LH)
- chromosomal in girls and boys
- another cause
boys- klinefelter (XXY)
girls- Turner (XO)
other cause- autoimmune disorders
causes of hypogonadotropic hypogonadism
constitutional delay of puberty chronic dzs pypopituitarism primary hypothyroidism prolactinoma genetic: kallman, prader-willi, lawrence-moon-biedl
male sexual differentiation is caused by the _____ gene on the _____
SRY gene on short arm of the Y chromosome
describe male sexual differentiation
SRY gene –> fetal testes
- Sertoli cells produce anti-mullerian hormone –> regression of mullerian structures (fallopian tubes, uterus, upper 1/3 vagina)
- Leydig cells produce testosterone
- -> stimulates development of wolffian ducts (epididymis, vas deferens, seminal vesicles)
- -> converted to DHT, which causes virilization of external genitalia (scrotal fusion and penile enlargement)
describe female sexual differentiation
no SRY –> ovaries form
- no anti-mullerian hormone –> development of Fallopian tubes, uterus, upper 1/3 vagina
- no testosterone –> wolffian ducts regress
- no DHT –> external genitalia do not virilize (formation of labia, clitoris, and lower 2/3 vagina)
causes of undervirilized male (46 XY with ambiguous genitalia and 1 or more gonads palpable)
- inborn errors of testosterone synthesis
- gonadal intersex (internal structures are both male and female)
- mixed gonadal dysgenesis
- true hermaphroditism
- partial androgen insensitivity (X linked)- incomplete peripheral androgen resistance results in ambiguous genitalia
karyotype of mixed gonadal dysgenesis (MGD)
45 XO/46 XY mosaic
presentation of mixed gonadal dysgenesis
ambiguous genitalia and a testis and vas deferens on one side and a “streak gonad” on the contralateral side
ambiguous genitalia with both ovarian and testicular gonadal tissue
true hermaphroditism
mostly 46XX but can be 46XY
complete androgen insensitivity
-normal phenotypic females (normal external genitalia) but with 46 XY karyotype
testicular feminization syndrome
differential diagnosis of virilized female
XX with no palpable gonads
congenital adrenal hyperplasia- esp 21-hydroxylase deficiency
virilizing drugs during pregnancy
virilizing tumor in mother during pregnancy
virilized female with increased blood pressure suggest ____
if decreased blood pressure
CAH with 11beta-OH deficiency
adrenal insufficiency
two parts of the adrenal gland and what they generally make
cortex- steroids
medulla- catecholamines
adrenal cortex mainly makes these 3 things
-which one is independent of the pituitary gland and ACTH
mineralocorticoids (aldosterone)** this one is independent and is controlled by the RAAS system
glucocorticoids (cortisol)
androgens (DHEA)
primary adrenal insufficiency is a problem at the level of the ____
adrenal gland
signs of cortisol insufficiency
anorexia weakness hyponatremia hypotension increased pigmentation
signs of aldosterone deficiency
FTT
salt craving
hyponatremia
hyperkalemia
examples of primary adrenal insufficiency
Addision’s disease
CAH
adrenoleukodystrophy
in secondary adrenal insufficiency, ______ is not deficient
aldosterone is not deficient b/c it doesn’t depend on ACTH
there in 2ndary adrenal insufficiency, serum K is normal
most common cause of secondary adrenal insufficiency
iatrogenic- sudden stoppage of long term steroid use
______ is the MCC of ambiguous genitalia when no gonads are palpable
CAH- it is autosomal recessive
3 main types of CAH
21 hydroxylase deficiency- most common
11beta-hydroxylase deficiency
3beta-hydroxysteroid dehydrogenase deficiency
3 subtypes of 21-hydroxylase deficiency (most common CAH)
classic salt wasting CAH
- both mineralocorticoid and glucocorticoid affected
- girls: ambiguous genitalia
- 1-2 weeks: FTT, vomiting, electrolyte abnormalities
simple virilizing CAH
- only glucocorticoid affected so no electrolyte abnormalities
- girls: ambiguous genitalia at birth
- boys: age 1-4 years with tall stature, advanced bone age, pubic hair, penile enlargement
nonclassic CAH
- late onset with very mild cortisol deficiency, age 4-5
- girls: premature adrenarche, clitoromegaly, acne, rapid growth, hirsutism, infertility
- boys: premature adrenarche, rapid growth, premature acne
11beta-hydroxylase version of CAH- presents like the classic 21hydroxylase patients except they are _____ and _____
hypertensive
hypokalemic
3beta-hydroxysteroid dehydrogenase deficiency (rare CAH)
salt wasting crises
glucocorticoid deficiency
ambiguous genitalia
*b/c there is an early block in all 3 adrenal pathways
diagnostic workup/what to measure in 3 types of CAH
21 hydroxylase- increased 17-OHP
11beta hydroxylase- increased specific compound S
3beta hydroxysteroid dehydrogenase- increased DHEA and 17hydroxygrenenolone
how to manage CAH
cortisone to suppress androgen production an adequate amount
+/- fludrocortisone (mineralocorticoid) supplementation
septicemia caused by meningococcus in a neonate results in adrenal insufficiency
waterhouse-friderichsen syndrome
how to dx acquired adrenal insufficiency
ACTH stim test
- normally, cortisol doubles in response to ACTH stim
- in primary adrenal insufficeincy, there is a blunted cortisol response
how to manage adrenal crisis
D5 in normal saline
parenteral steroids until stabilization
delayed bone age, central obesity, moon facies, nuchal fat pad, easy bruisability, purplish striae, HTN, glucose intolerance
glucocorticoid excess
causes of hypercortisolism (3)
iatrogenic- exogenous steroids
cushing syndrome- adrenal tumor
cushing disease- excessive ACTH production
how to dx hypercortisolism
elevated 24 hour urine cortisol
absence of expected cortisol suppression on dexamethasone suppression test
how to differentiate excess cortisol vs. obesity
hypercortisolism- growth impairment, delayed bone age
obesity- normal to fast growth, advanced bone age
DM in children is more common in ____ (boys/girls)
boys
95% of DM1 patients have HLA ______
DR3 or DR4
genetic aspect of DM1
MZ 50% concordance
DZ 30% concordance
autoimmune factors that may be seen in DM1 patient
islet cell antibodies (ICA)
antibodies against insulin
antibodies against glutamic acid decarboxylase (GAD)
classic presentation of DM1
polyuria, polydipsia, nocturia
perhaps DKA
suspect _____ in girls with protracted cases of vaginal yeast infections
DM1
how to dx DM1
random glucose > 200 with polyuria, polydipsia, weight loos, nocturia
what’s the honeymoon period of DM1
months to 1-2 years
insulin requirement lessens due to transient recovery of endogenous islet cell function
somogyi phenomenon
too much insulin at bedtime –> hypoglycemic –> counter regulatory stuff –> hyperglycemic and ketones in the morning
tx by LOWERING bedtime insulin dose, not raising it
glucose > 300, serum bicarb < 15, serum pH <7.30
DKA
severe DKA presentation
severe dehydration, abdominal pain that may mimic appendicitis, rapid and deep (Kussmaul) respirations, coma
lab findings in DKA
anion gap metabolic acidosis
hyperglycemia and glucosuria
ketonemia and ketonuria
hyperkalemia due to acidosis
how to manage DKA
- fluids!!! with isotonic saline
- regular insulin
- K repletion with K acetate (metabolic acidosis) or K phosphate (increase 2,3-DPG –> makes oxygen more available to tissues)
- *don’t drop osmolality to quickly or you risk cerebral edema
suboptimal growth velocity and delayed bone age
goiter
myxedema (puffy skin, dry skin, occasionally orange-tinged)
amenorrhea or oligomenorrhea
hypothyroidism
most common metabolic disorder in new born
congenital hypothyroidism
causes of congenital hypothyroidism
- thyroid dysgenesis (90%)
- thyroid dyshormonogenesis- multiple inborn errors of thyroid hormone synthesis
- pendred syndrome- this + sensorineural hearing loss
- use of PTU during pregnancy- transient
- maternal autoimmune thyroid disease- transient
thyroid screen is normally done as a newborn but some classic signs and symptoms
- prolonged jaundice
- poor feeding
- lethargy
- constipation
- large anterior and posterior fontanelles, protruding tongue, umbilical hernia, myxedema, mottled skin, hypothermia, delayed neurodevelopment, poor growth
how to tx congenital hypothyroidism
L-thyroxine
most common cause of acquired hypothyroidism with or without a goiter in a child
what is it, what are some sxs, how to tx
Hashimoto’s thyroiditis
- usually has goiter (firm and pebbly), thyroid antiperoxidase antibodies
- short stature
- can have transient hyperthyroidism
- tx with levothyroxine
if you have hyperthyroidism + vitiligo + alopecia, you should suspect ______
coexistence of other autoimmune polyendocrinopathies (DM, Addison’s disease)
most common cause of hyperthyroidism in childhood
Grave’s disease
what autoantibody in Grave’s disease
thyroid-stimulating immunoglobulin (TSI)
how to manage Grave’s disease
- PTU and methimazole (antithyroid medications)- PTU inhibits conversion of T4 to T3
- subtotal thyroidectomy
- radioactive iodine ablation
_____ and _____ release Ca and phosphorus from bones
vitamin D and PTH
PTH causes ______ and ______ resabsorption and ______ excretion
Ca and bicarbonate
phosphorus
Ca source is mainly via GI tract, and this is facilitated by ______
vitamin D (1,25-OH vitamin D)
younger patients with hypocalcemia tend to present with ______ and older patients tend to present with
seizures or comas
neuromuscular hyperexcitability
early neonatal hypocalcemia ( < 4 days) is usually ______
transient
3 main causes of late neonatal hypocalcemia (> 4 days)
- hypoparathyroidism- usually 2/2 maternal hyperparathyroidism… high Ca crosses placenta and suppresses baby’s PTH
- DiGeorge syndrome
- hyperphosphatemia b/c it complexes with Ca… 2/2 too much intake or uremia
what is pseudohypoparathyroidism
rare AD disorder resulting in PTH resistance… symptoms of hypocalcemia but PTH is high!
how does Mg affect Ca?
low Mg causes low Ca b/c Mg is needed for PTH release
_____ causes low Ca and low phosphorus
vitamin D deficiency
hypocalcemia can cause this on EKG
prolonged QT
how to manage hypocalcemia
if mild, no tx needed
if Ca < 7.5 in newborns or < 8 in older children, then can give Ca
oral therapy if minor sxs
IV Ca gluconate if major sxs
give 1,25-OH vitamin D to patients with chronic hypoparathyroidism
rickets is caused by _____ deficiency
this results in deficient _________ of growing bones with a normal bone matrix
vitamin D
mineralization
causes of rickets
vitamin D deficiency
GI disorders- malabsorption
defective vitamin D metabolism 2/2 renal or hepatic dysfunction
what is vitamin D-dependent rickets?
labs on presentation?
- AR condition
- deficiency of 1alpha-hydroxylase, which converts 25-OH vitamin D to 1,25-OH vitamin D in the kidney
- increased PTH, low vitamin D/Ca/phosphorus, increased alkaline phosphatase
what is vitamin D-resistant rickets (familial hypophosphatemia)
how is it inherited
what findings
what is the tx
- most common form of rickets in the US
- X linked dominant
- renal tubular phosphorus leak –> normal Ca and low phosphorus –> typical bowing of the legs but no tetany
- tx with phosphate supplements and 1,25 vitamin D
phosphate deficient form of rickets caused by bone or soft tissue tumor
oncogenous rickets
*consider in pts with bone pain or a myopathy
rickets most prominent in these 2 age ranges
first 2 years
adolescence
most commonly involved areas in rickets
wrists, knees, ribs, weight bearing bones become bowed
clinical presentation of rickets
short stature
bowed legs
rachitic rosary (prominent costochondral junction)
craniotabes- “ping pong” skull
frontal bossing
delayed suture closure
wrist xrays show widening, fraying, and cupping
how is nephrogenic DI inherited
X linked recessive
define hypoglycemia
serum glucose < 40
causes of hyperinsulinism in neonate with persistent hypoglycemia
- islet cell hyperplasia (nesidioblastosis)
- beckwith-wiedemann syndrome: LGA, visceromegaly, hemihypertrophy, macroglossia, umbilical hernia, distinctive ear creases
suspect ______ in neonate with hypoglycemia, microphallus, and midline defects like cleft palate
congenital hypopituitarism
this drug can cause hypoglycemia
alcohol
-deplete essential cofactors needed for gluconeogenesis in the liver
girls with hyperthyroidism are more likely to have ____ menarche
delayed
you can get these electrolyte disturbances when treating DKA
hypoglycemia
hypocalcemia
hypokalemia
premature adrenarche…. what they have and don’t have
have apocrine odor and pubic hair
do not have breast development or very advanced bone age
in PPP boys _____ do/do not have testicular enlargement
do not
breast development, cafe au lait spots, fibrous dysplasia of the long bones
mccune albright syndrome- girls with PPP
thin child who develops hypoglycemia after a long fast
ketotic hypoglycemia
____% of children have an innocent heart murmur at some point during childhood
50%
innocent heart murmur: ages 2-7 mid-left sternal border vibratory, twanging, or buzzing grade 1-3, systolic loudest supine and louder with exercise
still’s murmur
innocent heart murmur: any age upper left sternal border grade 1-2, peaks early in systole blowing, high-pitched loudest supine and louder with exercise
pulmonic systolic murmur (systolic ejection murmur)
innocent heart murmur: any age but esp school age neck and below the clavicles continuous murmur heard only when sitting or standing disappears if supine
venous hum
ASD in lower portion of atrial septum
what else can it cause?
what is it associated with?
ostium primum
can also cause mitral regurg
associated with Down syndrome
ASD in middle portion of the atrial septum
most common type of ASD
ostium secundum
ASD high in the septum… right pulmonary veins drain anomalously into the right atrium or SVC instead of into the left atrium
sinus venosus
ASDs cause a ____ to _____ shunt
what does this lead to?
- left to right
- leads to increase in size of RA and RV and to increased pulmonary blood flow
sxs of ASD
usually minimal
3 physical exam findings in ASD
- increased RV impulse
- systolic ejection murmur in the mid and upper left sternal border
- can also hear mid-diastolic filling rumble due to turbulence at tricuspid valve - fixed split S2
how to tx ASD
close the defect
after birth, what direction is the blood flow in VSD?
what can this lead to?
LV to RV due to lower pulmonary vascular resistance
increased pulmonary circulation –> pulmonary vessel hypertrophy –> pulmonary HTN
amount of blood shunted from one side to the other of VSD depends on _______ and ______
size of VSD
degree of pulmonary vascular resistance (PVR)
small VSDs presentation and prognosis
grade 4 high-pitched holosystolic murmur (smaller VSD = louder murmur)
it usually closes spontaneously
in moderate-severe VSDS, you may hear a ______ murmur and a ______ murmur
holosystolic
diastolic mitral filling murmur if there’s a lot of blood flow to the lungs that now needs to pass through the mitral valve
signs of elevated PVR in VSD
- RV heave
- S2 may be single and loud
- mitral filling rumble disappears b/c there is decreased left to right shunt
- symptoms of CHF also decreases 2/2 decrease in pulmonary blood flow
what happens if PVR remains irreversibly elevated?
shunting from right to left
Eisenmenger syndrome
how to tx VSD
- medical management of CHF
- surgical closure for heart failure refractory to medical management, large VSDs with pulmonary HTN (3-6 months), small-moderate VSDs (2-6 years)
what is the blood flow in PDA?
from aorta to ductus to pulmonary artery (left to right shunt) –> increased pulmonary blood flow
physical exam findings of PDA
machinery-like continuous murmur at LUSB
if large left-to-right shunt, you may hear diastolic mitral rumble, widened pulse pressure (>30mmHg) and brisk pulses
how to manage PDA
indomethacin in premature infants to close PDA medically
various surgical techniques
define coarctation of the aorta
narrowing in the aorta usually between left subclavian artery and ductus arteriosus
infants with severe coarcation may depend on right to left shunt through the _____ for perfusion of the LE
PDA
as the PDA closes, they may develop sxs of CHF
hypertension in the right arm, reduced BP in the LE
radio-femoral delay (femoral is after radial, which is abnormal)
coarctation of the aorta
______ is found in 50% of patients with coarctation of the aorta
bicuspid aortic valve or aortic stenosis
where to listen to the bruit of coarctation of the aorta
left upper back near the scapula
initial management of coarctation of the aorta in the symptomatic neonate
- IV prostaglandin (PGE) to keep the ductus arteriosus open
- inotropic meds and low dose dopamine to maximize end organ (specifically renal) perfusion
how to definitively tx coarctation of the aorta
surgery
balloon angioplasty- good for recurrent coarctation
prognosis is excellent!
in aortic stenosis, there is an imbalance between ______ and ______
this can lead to ______
if severe AS occurs during development, you might have _
- myocardial supply (outflow obstruction) and demand (increased work 2/2 outflow obstruction)
- myocardial ischemia
- hypoplasia of the LV 2/2 impaired fetal LV development
neonate who is normal at birth but then develops signs and sxs of CHF at 12-24 hours of age
neonates with severe stenosis (critical aortic stenosis)
presentation of aortic stenosis in older children
exercise intolerance, chest pain, syncope, sudden death
how to manage aortic stenosis
balloon valvuloplasty
surgery with replacement of the valve
clinical presentation of pulmonary stenosis
- neonate with severe pulmonary stenosis
- older children/most children
- neonate with severe PS: can cause cyanosis 2/2 right to left shunting through a PFO
- most children: no sxs
how to manage pulmonary stenosis if it’s symptomatic or gradient or RV pressure is high
balloon valvuloplasty
peripheral vs. central cyanosis
- peripheral- vasomotor instability or vasoconstriction as a result of cold temperature
- central- tongue and inner mucous membranes
- noncardiac: sepsis, hypoglycemia, polycythemia, pulmonary dz
- cardiac: 5 Ts
what are the 5Ts of cyanotic heart disease?
tetralogy of fallot TGA tricuspid atresia truncus arteriosus total anomalous pulmonary venous connection
results of the 100% oxygen test in cyanotic CHD
PaO2 fails to rise despite administration of 100% O2
most common cause of central cyanosis beyond the newborn period
tetralogy of fallot
define tetralogy of fallot
- VSD
- overriding aorta
- pulmonary stenosis
- RV hypertrophy
pathophys of TOF
RV outflow tract obstruction… blood flows from RV to pulmonary artery but also to the overriding aorta –> right to left shunt
-less pulmonary blood flow results in cyanosis
physical exam findings in TOF
increased RV impulse 2/2 RVH
systolic ejection murmur 2/2 pulmonary stenosis
cyanosis
actions that increase cyanosis in TOF
ex. things that increase right to left shunting
- decrease SVR- exercise, vasodilation, volume depletion
- increase resistance through the RVOT- crying, tachycardia
actions that decrease cyanosis in TOF
-reduces the right to left shunt
- increase SVR or reduce resistance through RVOT
- volume infusion, systemic hypertension, valsalva, bradycardia
neonates with severe pulmonary stenosis in TOF may present with cyanosis immediately after birth due to _____
closure of the PDA
a tet spell in TOF is characterized by sudden cyanosis and decreased murmur intensity
yep
pathophys of test spells and what do kids normally do during it?
any trigger decreases O2 sat –> kid becomes irritable and cries –> crying increases resistance through the RVOT –> increases right to left shunt –> cyanosis worsens –> terrible cycle
-to compensate, kids learn to squat (increase venous return, increase SVR which decreases the right to left shunt)
how to fix TOF
definitive surgical repair at 4-8 months
in TGA, when is cyanosis present
at or shortly after birth
central cyanosis, single S2, no murmur
TGA
how to tx TGA
initial management: PGE to keep PDA open +/- emergent balloon atrial septostomy (make ASD or PFO) bigger
definitive management: arterial switch operation
anatomy of tricuspid atresia
essentially, the tricuspid valve does not exist and that area is closed
-an ASD or PFO must be present
in tricuspid atresia… describe what it’s like if VSD is present vs. absent
- VSD absent- pulmonary atresia is also present… blood can only get to the lungs via PDA
- VSD present- LV –> VSD –> pulmonary artery (left to right shunt)
physical signs of tricuspid atresia
- no VSD
- VSD
- no VSD: no murmurs, single S2
- VSD: VSD murmur
tricuspid atresia is the only cause of cyanosis in the newborn period that results in ______ and ______
______is also present
left axis deviation and LV hypertrophy
right atrial enlargement is also present
how to tx tricuspid atresia
Fontan procedure
systemic venous return drains into pulmonary artery
truncus arteriosus anatomy
aorta and pulmonary artery originate from a common artery, the truncus
-VSD is almost always present
pathophys of truncus arteriosus
excessive blood flow to lungs –> CHF develops
mixing occurs in the truncus
pts are commonly only mildly desaturated and sometimes cyanotic
clinical features of truncus arteriosus
- CHF
- systolic ejection murmur from increased flow across truncal valve
- single S2
- diastolic murmur 2/2 increased flow across mitral
- high pitched systolic murmur at the base 2/2 insufficiency of the truncal valve
how to treat truncus arteriosus
medications for CHF
surgical repair in infancy
anatomy of total anomalous pulmonary venous connection (TAPVC)
pulmonary veins drain into the systemic venous side rather than into the left atrium
-supracardiac, cardiac, infracardiac
pathophys of TAPVC
physical exam features
systemic and pulmonary venous blood mixes in the right atrium –> desaturated blood –> cyanosis on exam
-exam features: cyanosis, pulmonary flow murmur
how to tx TAPVC
surgical repair shortly after dx
MCC acquired heart disease in children in the US
Kawasaki disease
MCC acquired heart disease worldwide
acute rheumatic fever
most commonly seen organisms in endocarditis
gram positive cocci
- alpha-hemolytic streptococci (strep viridans)
- staph
how to dx endocarditis
blood cultures!!!
ESR
TEE > TTE in terms of sensitivity
how to tx endocarditis
what about ppx?
anti-microbial therapy for 4-6 weeks
ppx before procedures for the following pts:
-all pts with structural heart disease except secundum ASD
-all post op cardiac surgery pts for at least 6 months
causes of pericarditis
infection
collagen vascular disease
uremia
postpericardiotomy syndrome
most common organisms in bacterial pericarditis
staph aureus and strep pneumo
*pts with purulent pericarditis have a high incidence of constrictive pericarditis
if severe enough, pericarditis can lead to ______
cardiac tamponade
characteristic chest pain in pericarditis
intense while supine and relieved when sitting upright
physical exam of pericarditis
pericardial friction rub
distant heart sounds
pulsus paradoxus
hepatomegaly
how to dx pericarditis
pericardiocentesis ESR EKG- ST changes and low voltage QRS CXR- enlarged heart shadow echo- definitive
how to tx pericarditis
- bacterial
- viral or postpericardiotomy
bacterial: abx
viral or postpericardiotomy: ASA, NSAIDs, steroids
+/- drainage via pericardial catheter or surgical window
common causes of myocarditis
viruses- enteroviruses esp coxsackievirus
bacteria- corynebacterium diphtheriae, strep pyogenes, staph aureus, mycobacterium tuberculosis
fungi- candida, cryptococcus
protoza- T cruzi (chaga’s disease)
autoimmune- SLE, rheumatic fever, sarcoidosis
kawasaki disease
some lab and imaging findings with myocarditis
elevated ESR, CKMB fraction and CRP
viral serology or PCR of endomyocardial bx specimen
echo shows anatomically normal heart with global ventricular dysfnc
how to manage myocarditis
supportive: inotropes, diuretics, after load reducers
may need cardiac transplant
cardiomyopathy with ventricular dilation and reduced cardiac function
dilated cardiomyopathy
causes of dilated cardiomyopathy
viral myocarditis mitochondrial abnormalities carnitine deficiency nutritional deficiency- selenium and thiamine hypocalcemia chronic tachydysrhythmias anomalous origin of left coronary artery from pulmonary artery (ALCAPA) meds- doxorubicin
evaluation of dilated cardiomyopathy should include ______ and _____
viral serologies
carnitine level
hypertrophic cardiomyopathy is inherited as ______
most typical anatomic finding is _______
autosomal dominant
asymmetric septal hypertrophy
these are impaired in HOCM
poor LV filling
dynamic LVOT obstruction
MCC sudden death in young athletes
hypertrophci cardiomyopathy
harsh, systolic ejection murmur at the apex
-accentuated with maneuvers that reduce LV volume (Valsalva and standing)
hypertrophic cardiomyopathy
management of HOCM
beta adrenergic blockers or CCBs
surgical myomectomy
antiarrhythmic medication
dual chamber pacing
causes of restrictve cardiomyopathy
amyloidosis
inherited infiltrative disorders
how to tx restrictive cardiomyopathy
- diuretics to improve diastolic compliance
- beta blockers and CCBs
most common dysrhythmia in childhood
which is associated with sudden cardiac death
SVT (AVRT/WPW or AVNRT)
WPW is associated with sudden cardiac death
delta wave suggests ______
WPW
acute management of SVT
- vagal maneuvers- valsalva, ice pack on face, unilateral carotid massage, placing child upside down, orbital pressure
- IV adenosine (also propranolol, digoxin, procainamide, amiodarone)
- cardioversion for hemodynamic instability
chronic management of SVT
- meds like propranolol
- catheter ablation of the accessory pathway
on CXR for congenital heart disease
- boot shaped
- egg on a string
- snowman appearance
- TOF
- TGA
- TAPVC
congenital 3rd degree AV block is associated with children born to moms with ______
-other causes of heart block?
SLE
- post cardiac surgery
- bacterial endocarditis
how to tx symptomatic AV block
cardiac pacing
2 inherited causes of long QT
- jervell-lange-nielsen syndrome- AR, associated with congenital deafness
- romano-ward syndrome- AD, not associated with congenital deafness
what defines a long QT
QTc > 440 msec
how to tx long QT
beta-blocker for symptoms
cardiac pacing, AICD, etc. for asymptomatic people
inspiratory stridor suggests _______ such as _______
extrathoracic obstruction
croup and laryngomalacia
expiratory wheezing suggests _________ such as _______
intrathoracic obstruction
asthma
bronchiolitis
most common age range for epiglottitis
age 2-7 years
MCC of epiglottitis prior to immunization
HIB
-also GABHS, strep pneumo, and staph
abrupt onset of rapidly progressive upper airway obstruction w/o prodrome
- high fever, toxic looking
- muffled speech
- dysphagia and drooling
- sitting forward/tripoding
epiglottitis
xray finding in epiglottitis
thumbprinting on lateral neck xray
how to manage epiglottitis
- emergency* avoid causing distress as airway may close
- nasotracheal intubation
- abx: 2nd or 3rd gen IV cephalosporin
if epiglottitis is due to HIB, then give _________ as ppx for unvaccinated household contacts < 6 years
rifampin
inflammation of the subglottic larynx, trachea, and bronchi
croup
2 types of croup and ages affected
viral croup- MCC stridor, ages 3month-3years, late fall-winter
spasmodic croup- year round in preschool children
MCC viral croup
parainfluenza viruses
URI for 2-3 days –> inspiratory stridor, fever, barky cough
viral croup
steeple sign on CXR indicates
croup
characteristic acute onset of stridor usually at night
spasmodic croup
-recurs and resolves w/o treatment
tx for croup
cool mist and fluids
if stridor at rest –> systemic corticosteroids
if respiratory distress –> racemic epinephrine aerosol
if wheezing –> albuterol
a non-croup cause of stridor
toxicity, high fever, mucous and pus in the airway
what are some organisms involved?
bacterial tracheitis
staph aureus (60%), strep, nontypeable H flu
tx with abx
viral infection that causes inflammatory bronchiolar obstruction
bronchiolitis
__________ is the most common lower respiratory tract infection in the first 2 years
it is also predominantly in kids < 2 years
bronchiolitis
when is bronchiolitis most active?
winter
MCC of bronchiolitis
RSV
clinical progression of bronchiolitis
URI –> tachypnea, rales, wheezing
+/- apnea, hypoxemia
CXR of bronchiolitis
hyperinflation with air trapping, patchy infiltrates, atelectasis
more than _____ of kids with bronchiolitis have recurrent wheezing
50%
how to manage bronchiolitis
mostly supportive: nasal bulb suctioning, hydration, etc
bronchodilators and steroids are controversial
nebulized racemic epinephrine can reduce airway constriction
aerosolized ribavirin for very ill infants
monthly ppx with RSV antibody injections for high risk kids
______ are the MCC pneumonia in all age groups
viruses
______ is the MCC afebrile pneumonia at 1-3 months of age
chlamydia trachomatis
- staccato-type cough, h/o conjunctivitis at birth
- eosinophilia and CXR with interstitial infiltrates
________ is a very common cause of pneumonia in older children and adolescents
CXR and how to tx?
mycoplasma pneumoniae
CXR: interstitial infiltrates
tx: oral erythromycin or azithromycin
whooping cough is caused by ________
bordetella pertussis
infants younger than _____ are most at risk for pertussis complications
6 months
3 stages of pertussis
- catarrhal (1-2 weeks)- URI
- paroxysmal (2-4 weeks)- coughing fits followed by inspiratory whoop… cyanosis, apnea, choking can happen in young infants
- convalescent phase (weeks to months)- getting better
how to dx pertussis
tests on nasal secretion
how to manage pertussis
- if super young, probably hospitalize
- abx for all pts to prevent spread (azithromycin or erythromycin)
- respiratory isolation until abx are given for 5 days
_____ is the most common chronic pediatric disease
asthma
pathophys of asthma
smooth muscle bronchoconstriction
airway mucosal edema
increased secretions with mucous plugging
eventual airway wall remodeling
production of inflammatory mediators (ex. IgE)
some asthmatics don’t wheeze, they _____
cough
CXR of asthmatic
hyperinflation
peribronchial thickening
patchy atelectasis
PFTs of asthma
increased lung volumes
decreased expiratory flow rate
asthma management
what is cromolyn?
anti-inflammatory ppx
no effect on acute sxs
asthma management
role of steroids
systemic steroid course for severe exacerbations
inhaled steroids for preventing exacerbations
asthma management
role of anticholinergic agents (atropine, ipratropium)
second line bronchodilators b/c they decrease airway vagal tone and block reflex bronchoconstriction
-may be useful in sever exacerbations
asthma management leukotriene modifier (montelukast, zafirlukast)
oral anti-inflammatory agents for long term control of mild, persistent asthma
asthma classification: intermittent
daytime < 2/week
nighttime <2/month
-albuterol for sx relief
asthma classification: mild persistent
daytime > 2/week but not daily nighttime > 2/month FEV > 80% predicted (normal) -albuterol for sx relief -low dose inhaled steroid (preferred) or cromolyn or leukotriene modifier for daily use
asthma classification: moderate persistent
daily sxs nighttime > 1/week FEV1 60-80% predicted daily use of albuterol -albuterol for sx relief -medium dose inhaled steroid OR low dose inhaled steroid + LABA (like advair)
asthma classification: severe persistent
continuous sxs frequent nighttime sxs limited physical activity FEV1 < 60% -albuterol for sx relief -high dose inhaled corticosteroid and LABA -long term systemic steroids, if needed
CF is inherited as ______ and gene is on chromosome ______
AR
7
chronic progressive pulmonary insufficiency, pancreatic insufficiency (steatorrhea, FTT), high sweat electrolytes
CF
meconium ileus at birth
CF
PFTs of CF
decreased respiratory flow rates (obstruction) and then eventually decreased lung volumes (restriction)
common organisms in CF pneumonia
staph aureus and then **pseudomonas aeruginosa
aside from recurrent pneumonia, bronchiectasis, pulmonary fribrosis, cor pulmonale, this feature can be seen in CF
nasal polyps
in CF sweat chloride is _____
what are the serum electrolytes like?
> 60 mmol/L
hyponatremic, hypochloremic, hypokalemic metabolic alkalosis
tx for CF
abx pulmonary toilet bronchodilators for wheezing good nutrition, pancreatic enzyme replacement, fat soluble vitamins oxygen lung transplant psych support
define chronic lung disease
oxygen dependency beyond 28 days
MCC cause of chronic lung disease
premature children with respiratory distress syndrome (hyaline membrane disease or surfactant deficiency)
pathophys of chronic lung disease
acute and secondary lung injury
healing of lung tissue is typically abnormal
results in restrictive and obstructive lung disease –> diminished PaO2 and increased PaCO2
CXR of chronic lung disease (aka bronchopulmonary dysplasia)
hyperinflation
atelectasis
linear or cystic radiodensities
how to manage chronic lung disease (aka. BPD)
prognosis?
supplemental O2 or vent support optimize pulmonary function optimize caloric intake and growth prevent complication infections early identification of complications -prog: pulm sxs and disease often diminish with time and growth but various complications may still occur
foreign body aspiration usually occurs in ages ________
what are some clinical features?
3 months - 5 years
- laryngotracheal foreign bodies (extrathoracic): inspiratory stridor, cough, hoarseness
- bronchial foreign bodies (intrathoracic): asymmetric exam findings, can be complete to partial to no obstruction, localized wheezing/persistent pneumonia
- esophageal obstruction can press on the trachea
how to dx foreign body aspiration
CXR
consider inspiratory and expiratory films, bilateral decubitus films in those who can’t inspire and expire on command
how to tx foreign body aspiration
cough it up
if not, bronchoscopy to remove it
unexplained cessation of breathing for > 20 seconds
apnea of infancy or prematurity
three or more respiratory pauses lasting at least 3 seconds each, with less than 20 secs of normal respiration in between
periodic breathing
peak ages of SIDS
2-4 months
cause of apnea of prematurity
immature central respiratory center control
