BRS #3 Flashcards
(302 cards)
0
Q
children who grow _______ per year between age 3 and puberty usually do not have an endocrinopathy or underlying pathologic disorder
A
2 inches (5 cm) per year
1
Q
define short stature
A
height that is 2 SDs below the mean (below 3rd percentile)
2
Q
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
A
3 SDs
5 cm/year
3
Q
hypoglycemia, prolonged jaundice, cryptorchidism, microphallus, short stature
A
hypopituitarism
4
Q
male mid parental height
A
(father’s height + mother’s height + 5 inches)/2
5
Q
female mid parental height
A
(father’s height - 5 + mother’s height)/2
6
Q
2 classes of drugs that can cause short stature
A
steroids, stimulants
7
Q
define upper and lower segment
what are normal U/L ratios
A
lower segment = pubic symphysis to the heel
upper segment = total height - lower segment
birth = 1.7
age 3 = 1.3
> age 7 = 1.0
8
Q
2 types of normal variant short stature
A
- 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
9
Q
define pathologic short stature
A
height less than 3 SDs below the mean with abnormal growth velocity
10
Q
causes of pathologic proportionate short stature
A
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)
11
Q
2 causes of pathologic disproportionate short stature (very short legged with increased U/L ratio)
A
rickets
skeletal dysplasias
12
Q
frontal bossing, bowed legs, low serum phosphorus, high serum alkaline phosphatase
A
rickets
13
Q
short people with short limbs
A
achondroplasia
14
Q
initial labs for short stature workup
A
CBC, ESR, T4, electrolytes including Ca and phosphorus, Cr, bicarbonate, IGF-1
15
Q
initial imaging for short stature workup
A
bone age determination
AP and lateral skull radiographs to see if sella looks weird
16
Q
conditions in which bone age = chronological age
A
familial short stature
IUGR
Turner syndrome
skeletal dysplasia
17
Q
conditions in which bone age < chronological age
A
constitutional short stature hypothyroidism hypercortisolism GH deficiency chronic diseases
18
Q
prolonged neonatal juandice hypoglycemia cherubic facies central obesity microphallus cryptorchidism midline defects poor growth velocity
A
GH deficiency
19
Q
__________ must be considered in any child > 5 years of ae who is not growing 2 inches per year
A
craniopharyngioma
20
Q
all patients with GH deficiency should have this done
A
MRI of the head
21
Q
how to dx GH deficiency
A
low IGF-1 levels
poor response on GH stimulation testing
22
Q
tx of GH deficiency
A
daily subcutaneous injections of GH until max growth potential (age 13-14 in girls, 15-16 in boys)
23
Q
most common cause of hypothyroidism in kids is ________
how do you dx it?
A
Hashimoto’s thyroiditis
-increased TSH, low T4, positive antithyroid peroxidase antibodies
24
most common cause of hypercortisolism that results in short stature is ______
iatrogenic use of steroids
25
________ has been shown to improve ultimate height of Turner patients
GH treatment
26
onset of puberty is between _____ and ______ in females
7 and 13
27
thelarche occurs due to this hormone
| adrenarche occurs due to this hormone
estrogen
| adrenal androgens
28
in females, ______ and usually the first sign of puberty
breast buds
29
menarche has mean onset at age _____
12.5
30
_____ stimulates ovaries to produce follicles, which in turn produce estrogen
TSH
31
_____ is responsible for the positive feedback in the middle of the menstrual cycle resulting in the release of an egg
LH
32
male puberty onset is between ____ and ______ years
9 and 14
33
____ is usually the first sign of male puberty
testicular enlargement
34
_____ stimulates the seminiferous tubules in the testes to produce sperm
FSH
35
______ 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
36
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
37
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
38
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
39
_____ (girls/boys) have a higher incidence of isosexual precocious puberty
girls
40
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
41
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)
42
central precocious puberty, poor growth, delayed bone age
hypothyroidism
43
GnRH stimulation test in CPP vs. PPP
give synthetic GnRH
- CPP: dramatic increase in LH
- PPP: flat response
44
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
45
there is usually no testicular enlargement in PPP except for the following 3 things
McCune-Albright syndrome
testotoxicosis
beta-HCG secreting tumors
46
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
47
testes enlarge bilaterally independent of the HPGA
testotoxicosis
48
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
49
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
50
constitutional delay of puberty is much more common in _____ (boys/girls)
boys
51
isolated gonadotropin deficiency associated with anosmia (inability to smell)
kallman syndrome
52
obesity, retinitis pigmentosa, hypogonadism, polysyndactyly
lawrence-moon-biedl syndrome
53
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
54
causes of hypogonadotropic hypogonadism
```
constitutional delay of puberty
chronic dzs
pypopituitarism
primary hypothyroidism
prolactinoma
genetic: kallman, prader-willi, lawrence-moon-biedl
```
55
male sexual differentiation is caused by the _____ gene on the _____
SRY gene on short arm of the Y chromosome
56
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)
57
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)
58
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
59
karyotype of mixed gonadal dysgenesis (MGD)
45 XO/46 XY mosaic
60
presentation of mixed gonadal dysgenesis
ambiguous genitalia and a testis and vas deferens on one side and a "streak gonad" on the contralateral side
61
ambiguous genitalia with both ovarian and testicular gonadal tissue
true hermaphroditism
| mostly 46XX but can be 46XY
62
complete androgen insensitivity
| -normal phenotypic females (normal external genitalia) but with 46 XY karyotype
testicular feminization syndrome
63
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
64
virilized female with increased blood pressure suggest ____
| if decreased blood pressure
CAH with 11beta-OH deficiency
| adrenal insufficiency
65
two parts of the adrenal gland and what they generally make
cortex- steroids
| medulla- catecholamines
66
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)
67
primary adrenal insufficiency is a problem at the level of the ____
adrenal gland
68
signs of cortisol insufficiency
```
anorexia
weakness
hyponatremia
hypotension
increased pigmentation
```
69
signs of aldosterone deficiency
FTT
salt craving
hyponatremia
hyperkalemia
70
examples of primary adrenal insufficiency
Addision's disease
CAH
adrenoleukodystrophy
71
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
72
most common cause of secondary adrenal insufficiency
iatrogenic- sudden stoppage of long term steroid use
73
______ is the MCC of ambiguous genitalia when no gonads are palpable
CAH- it is autosomal recessive
74
3 main types of CAH
21 hydroxylase deficiency- most common
11beta-hydroxylase deficiency
3beta-hydroxysteroid dehydrogenase deficiency
75
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
76
11beta-hydroxylase version of CAH- presents like the classic 21hydroxylase patients except they are _____ and _____
hypertensive
| hypokalemic
77
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
78
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
79
how to manage CAH
cortisone to suppress androgen production an adequate amount
| +/- fludrocortisone (mineralocorticoid) supplementation
80
septicemia caused by meningococcus in a neonate results in adrenal insufficiency
waterhouse-friderichsen syndrome
81
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
82
how to manage adrenal crisis
D5 in normal saline
| parenteral steroids until stabilization
83
delayed bone age, central obesity, moon facies, nuchal fat pad, easy bruisability, purplish striae, HTN, glucose intolerance
glucocorticoid excess
84
causes of hypercortisolism (3)
iatrogenic- exogenous steroids
cushing syndrome- adrenal tumor
cushing disease- excessive ACTH production
85
how to dx hypercortisolism
elevated 24 hour urine cortisol
| absence of expected cortisol suppression on dexamethasone suppression test
86
how to differentiate excess cortisol vs. obesity
hypercortisolism- growth impairment, delayed bone age
| obesity- normal to fast growth, advanced bone age
87
DM in children is more common in ____ (boys/girls)
boys
88
95% of DM1 patients have HLA ______
DR3 or DR4
89
genetic aspect of DM1
MZ 50% concordance
| DZ 30% concordance
90
autoimmune factors that may be seen in DM1 patient
islet cell antibodies (ICA)
antibodies against insulin
antibodies against glutamic acid decarboxylase (GAD)
91
classic presentation of DM1
polyuria, polydipsia, nocturia
| perhaps DKA
92
suspect _____ in girls with protracted cases of vaginal yeast infections
DM1
93
how to dx DM1
random glucose > 200 with polyuria, polydipsia, weight loos, nocturia
94
what's the honeymoon period of DM1
months to 1-2 years
| insulin requirement lessens due to transient recovery of endogenous islet cell function
95
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
96
glucose > 300, serum bicarb < 15, serum pH <7.30
DKA
97
severe DKA presentation
severe dehydration, abdominal pain that may mimic appendicitis, rapid and deep (Kussmaul) respirations, coma
98
lab findings in DKA
anion gap metabolic acidosis
hyperglycemia and glucosuria
ketonemia and ketonuria
hyperkalemia due to acidosis
99
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
100
suboptimal growth velocity and delayed bone age
goiter
myxedema (puffy skin, dry skin, occasionally orange-tinged)
amenorrhea or oligomenorrhea
hypothyroidism
101
most common metabolic disorder in new born
congenital hypothyroidism
102
causes of congenital hypothyroidism
1. thyroid dysgenesis (90%)
2. thyroid dyshormonogenesis- multiple inborn errors of thyroid hormone synthesis
* pendred syndrome- this + sensorineural hearing loss
3. use of PTU during pregnancy- transient
4. maternal autoimmune thyroid disease- transient
103
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
104
how to tx congenital hypothyroidism
L-thyroxine
105
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
106
if you have hyperthyroidism + vitiligo + alopecia, you should suspect ______
coexistence of other autoimmune polyendocrinopathies (DM, Addison's disease)
107
most common cause of hyperthyroidism in childhood
Grave's disease
108
what autoantibody in Grave's disease
thyroid-stimulating immunoglobulin (TSI)
109
how to manage Grave's disease
- PTU and methimazole (antithyroid medications)- PTU inhibits conversion of T4 to T3
- subtotal thyroidectomy
- radioactive iodine ablation
110
_____ and _____ release Ca and phosphorus from bones
vitamin D and PTH
111
PTH causes ______ and ______ resabsorption and ______ excretion
Ca and bicarbonate
| phosphorus
112
Ca source is mainly via GI tract, and this is facilitated by ______
vitamin D (1,25-OH vitamin D)
113
younger patients with hypocalcemia tend to present with ______ and older patients tend to present with
seizures or comas
| neuromuscular hyperexcitability
114
early neonatal hypocalcemia ( < 4 days) is usually ______
transient
115
3 main causes of late neonatal hypocalcemia (> 4 days)
1. hypoparathyroidism- usually 2/2 maternal hyperparathyroidism... high Ca crosses placenta and suppresses baby's PTH
2. DiGeorge syndrome
3. hyperphosphatemia b/c it complexes with Ca... 2/2 too much intake or uremia
116
what is pseudohypoparathyroidism
rare AD disorder resulting in PTH resistance... symptoms of hypocalcemia but PTH is high!
117
how does Mg affect Ca?
low Mg causes low Ca b/c Mg is needed for PTH release
118
_____ causes low Ca and low phosphorus
vitamin D deficiency
119
hypocalcemia can cause this on EKG
prolonged QT
120
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
121
rickets is caused by _____ deficiency
| this results in deficient _________ of growing bones with a normal bone matrix
vitamin D
| mineralization
122
causes of rickets
vitamin D deficiency
GI disorders- malabsorption
defective vitamin D metabolism 2/2 renal or hepatic dysfunction
123
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
124
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
125
phosphate deficient form of rickets caused by bone or soft tissue tumor
oncogenous rickets
| *consider in pts with bone pain or a myopathy
126
rickets most prominent in these 2 age ranges
first 2 years
| adolescence
127
most commonly involved areas in rickets
wrists, knees, ribs, weight bearing bones become bowed
128
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
129
how is nephrogenic DI inherited
X linked recessive
130
define hypoglycemia
serum glucose < 40
131
causes of hyperinsulinism in neonate with persistent hypoglycemia
- islet cell hyperplasia (nesidioblastosis)
- beckwith-wiedemann syndrome: LGA, visceromegaly, hemihypertrophy, macroglossia, umbilical hernia, distinctive ear creases
132
suspect ______ in neonate with hypoglycemia, microphallus, and midline defects like cleft palate
congenital hypopituitarism
133
this drug can cause hypoglycemia
alcohol
| -deplete essential cofactors needed for gluconeogenesis in the liver
134
girls with hyperthyroidism are more likely to have ____ menarche
delayed
135
you can get these electrolyte disturbances when treating DKA
hypoglycemia
hypocalcemia
hypokalemia
136
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
137
in PPP boys _____ do/do not have testicular enlargement
do not
138
breast development, cafe au lait spots, fibrous dysplasia of the long bones
mccune albright syndrome- girls with PPP
139
thin child who develops hypoglycemia after a long fast
ketotic hypoglycemia
140
____% of children have an innocent heart murmur at some point during childhood
50%
141
```
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
142
```
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)
143
```
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
144
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
145
ASD in middle portion of the atrial septum
| most common type of ASD
ostium secundum
146
ASD high in the septum... right pulmonary veins drain anomalously into the right atrium or SVC instead of into the left atrium
sinus venosus
147
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
148
sxs of ASD
usually minimal
149
3 physical exam findings in ASD
1. increased RV impulse
2. systolic ejection murmur in the mid and upper left sternal border
- can also hear mid-diastolic filling rumble due to turbulence at tricuspid valve
3. fixed split S2
150
how to tx ASD
close the defect
151
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
152
amount of blood shunted from one side to the other of VSD depends on _______ and ______
size of VSD
| degree of pulmonary vascular resistance (PVR)
153
small VSDs presentation and prognosis
grade 4 high-pitched holosystolic murmur (smaller VSD = louder murmur)
it usually closes spontaneously
154
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
155
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
156
what happens if PVR remains irreversibly elevated?
shunting from right to left
| Eisenmenger syndrome
157
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)
158
what is the blood flow in PDA?
from aorta to ductus to pulmonary artery (left to right shunt) --> increased pulmonary blood flow
159
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
160
how to manage PDA
indomethacin in premature infants to close PDA medically
| various surgical techniques
161
define coarctation of the aorta
narrowing in the aorta usually between left subclavian artery and ductus arteriosus
162
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
163
hypertension in the right arm, reduced BP in the LE
| radio-femoral delay (femoral is after radial, which is abnormal)
coarctation of the aorta
164
______ is found in 50% of patients with coarctation of the aorta
bicuspid aortic valve or aortic stenosis
165
where to listen to the bruit of coarctation of the aorta
left upper back near the scapula
166
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
167
how to definitively tx coarctation of the aorta
surgery
balloon angioplasty- good for recurrent coarctation
prognosis is excellent!
168
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
169
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)
170
presentation of aortic stenosis in older children
exercise intolerance, chest pain, syncope, sudden death
171
how to manage aortic stenosis
balloon valvuloplasty
| surgery with replacement of the valve
172
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
173
how to manage pulmonary stenosis if it's symptomatic or gradient or RV pressure is high
balloon valvuloplasty
174
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
175
what are the 5Ts of cyanotic heart disease?
```
tetralogy of fallot
TGA
tricuspid atresia
truncus arteriosus
total anomalous pulmonary venous connection
```
176
results of the 100% oxygen test in cyanotic CHD
PaO2 fails to rise despite administration of 100% O2
177
most common cause of central cyanosis beyond the newborn period
tetralogy of fallot
178
define tetralogy of fallot
1. VSD
2. overriding aorta
3. pulmonary stenosis
4. RV hypertrophy
179
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
180
physical exam findings in TOF
increased RV impulse 2/2 RVH
systolic ejection murmur 2/2 pulmonary stenosis
cyanosis
181
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
182
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
183
neonates with severe pulmonary stenosis in TOF may present with cyanosis immediately after birth due to _____
closure of the PDA
184
a tet spell in TOF is characterized by sudden cyanosis and decreased murmur intensity
yep
185
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)
186
how to fix TOF
definitive surgical repair at 4-8 months
187
in TGA, when is cyanosis present
at or shortly after birth
188
central cyanosis, single S2, no murmur
TGA
189
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
190
anatomy of tricuspid atresia
essentially, the tricuspid valve does not exist and that area is closed
-an ASD or PFO must be present
191
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)
192
physical signs of tricuspid atresia
- no VSD
- VSD
- no VSD: no murmurs, single S2
| - VSD: VSD murmur
193
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
194
how to tx tricuspid atresia
Fontan procedure
| systemic venous return drains into pulmonary artery
195
truncus arteriosus anatomy
aorta and pulmonary artery originate from a common artery, the truncus
-VSD is almost always present
196
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
197
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
198
how to treat truncus arteriosus
medications for CHF
| surgical repair in infancy
199
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
200
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
201
how to tx TAPVC
surgical repair shortly after dx
202
MCC acquired heart disease in children in the US
Kawasaki disease
203
MCC acquired heart disease worldwide
acute rheumatic fever
204
most commonly seen organisms in endocarditis
gram positive cocci
- alpha-hemolytic streptococci (strep viridans)
- staph
205
how to dx endocarditis
blood cultures!!!
ESR
TEE > TTE in terms of sensitivity
206
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
207
causes of pericarditis
infection
collagen vascular disease
uremia
postpericardiotomy syndrome
208
most common organisms in bacterial pericarditis
staph aureus and strep pneumo
| *pts with purulent pericarditis have a high incidence of constrictive pericarditis
209
if severe enough, pericarditis can lead to ______
cardiac tamponade
210
characteristic chest pain in pericarditis
intense while supine and relieved when sitting upright
211
physical exam of pericarditis
pericardial friction rub
distant heart sounds
pulsus paradoxus
hepatomegaly
212
how to dx pericarditis
```
pericardiocentesis
ESR
EKG- ST changes and low voltage QRS
CXR- enlarged heart shadow
echo- definitive
```
213
how to tx pericarditis
- bacterial
- viral or postpericardiotomy
bacterial: abx
viral or postpericardiotomy: ASA, NSAIDs, steroids
+/- drainage via pericardial catheter or surgical window
214
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
215
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
216
how to manage myocarditis
supportive: inotropes, diuretics, after load reducers
| may need cardiac transplant
217
cardiomyopathy with ventricular dilation and reduced cardiac function
dilated cardiomyopathy
218
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
```
219
evaluation of dilated cardiomyopathy should include ______ and _____
viral serologies
| carnitine level
220
hypertrophic cardiomyopathy is inherited as ______
| most typical anatomic finding is _______
autosomal dominant
| asymmetric septal hypertrophy
221
these are impaired in HOCM
poor LV filling
| dynamic LVOT obstruction
222
MCC sudden death in young athletes
hypertrophci cardiomyopathy
223
harsh, systolic ejection murmur at the apex
| -accentuated with maneuvers that reduce LV volume (Valsalva and standing)
hypertrophic cardiomyopathy
224
management of HOCM
beta adrenergic blockers or CCBs
surgical myomectomy
antiarrhythmic medication
dual chamber pacing
225
causes of restrictve cardiomyopathy
amyloidosis
| inherited infiltrative disorders
226
how to tx restrictive cardiomyopathy
- diuretics to improve diastolic compliance
| - beta blockers and CCBs
227
most common dysrhythmia in childhood
| which is associated with sudden cardiac death
SVT (AVRT/WPW or AVNRT)
| WPW is associated with sudden cardiac death
228
delta wave suggests ______
WPW
229
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
230
chronic management of SVT
- meds like propranolol
| - catheter ablation of the accessory pathway
231
on CXR for congenital heart disease
- boot shaped
- egg on a string
- snowman appearance
- TOF
- TGA
- TAPVC
232
congenital 3rd degree AV block is associated with children born to moms with ______
-other causes of heart block?
SLE
- post cardiac surgery
- bacterial endocarditis
233
how to tx symptomatic AV block
cardiac pacing
234
2 inherited causes of long QT
- jervell-lange-nielsen syndrome- AR, associated with congenital deafness
- romano-ward syndrome- AD, not associated with congenital deafness
235
what defines a long QT
QTc > 440 msec
236
how to tx long QT
beta-blocker for symptoms
| cardiac pacing, AICD, etc. for asymptomatic people
237
inspiratory stridor suggests _______ such as _______
extrathoracic obstruction
| croup and laryngomalacia
238
expiratory wheezing suggests _________ such as _______
intrathoracic obstruction
asthma
bronchiolitis
239
most common age range for epiglottitis
age 2-7 years
240
MCC of epiglottitis prior to immunization
HIB
| -also GABHS, strep pneumo, and staph
241
abrupt onset of rapidly progressive upper airway obstruction w/o prodrome
- high fever, toxic looking
- muffled speech
- dysphagia and drooling
- sitting forward/tripoding
epiglottitis
242
xray finding in epiglottitis
thumbprinting on lateral neck xray
243
how to manage epiglottitis
* **emergency*** ***avoid causing distress as airway may close***
- nasotracheal intubation
- abx: 2nd or 3rd gen IV cephalosporin
244
if epiglottitis is due to HIB, then give _________ as ppx for unvaccinated household contacts < 6 years
rifampin
245
inflammation of the subglottic larynx, trachea, and bronchi
croup
246
2 types of croup and ages affected
viral croup- MCC stridor, ages 3month-3years, late fall-winter
spasmodic croup- year round in preschool children
247
MCC viral croup
parainfluenza viruses
248
URI for 2-3 days --> inspiratory stridor, fever, barky cough
viral croup
249
steeple sign on CXR indicates
croup
250
characteristic acute onset of stridor usually at night
spasmodic croup
| -recurs and resolves w/o treatment
251
tx for croup
cool mist and fluids
if stridor at rest --> systemic corticosteroids
if respiratory distress --> racemic epinephrine aerosol
if wheezing --> albuterol
252
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
253
viral infection that causes inflammatory bronchiolar obstruction
bronchiolitis
254
__________ is the most common lower respiratory tract infection in the first 2 years
it is also predominantly in kids < 2 years
bronchiolitis
255
when is bronchiolitis most active?
winter
256
MCC of bronchiolitis
RSV
257
clinical progression of bronchiolitis
URI --> tachypnea, rales, wheezing
| +/- apnea, hypoxemia
258
CXR of bronchiolitis
hyperinflation with air trapping, patchy infiltrates, atelectasis
259
more than _____ of kids with bronchiolitis have recurrent wheezing
50%
260
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
261
______ are the MCC pneumonia in all age groups
viruses
262
______ 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
263
________ 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
264
whooping cough is caused by ________
bordetella pertussis
265
infants younger than _____ are most at risk for pertussis complications
6 months
266
3 stages of pertussis
1. catarrhal (1-2 weeks)- URI
2. paroxysmal (2-4 weeks)- coughing fits followed by inspiratory whoop... cyanosis, apnea, choking can happen in young infants
3. convalescent phase (weeks to months)- getting better
267
how to dx pertussis
tests on nasal secretion
268
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
269
_____ is the most common chronic pediatric disease
asthma
270
pathophys of asthma
smooth muscle bronchoconstriction
airway mucosal edema
increased secretions with mucous plugging
eventual airway wall remodeling
production of inflammatory mediators (ex. IgE)
271
some asthmatics don't wheeze, they _____
cough
272
CXR of asthmatic
hyperinflation
peribronchial thickening
patchy atelectasis
273
PFTs of asthma
increased lung volumes
| decreased expiratory flow rate
274
asthma management
| what is cromolyn?
anti-inflammatory ppx
| no effect on acute sxs
275
asthma management
| role of steroids
systemic steroid course for severe exacerbations
| inhaled steroids for preventing exacerbations
276
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
277
```
asthma management
leukotriene modifier (montelukast, zafirlukast)
```
oral anti-inflammatory agents for long term control of mild, persistent asthma
278
asthma classification: intermittent
daytime < 2/week
nighttime <2/month
-albuterol for sx relief
279
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
```
280
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)
```
281
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
```
282
CF is inherited as ______ and gene is on chromosome ______
AR
| 7
283
chronic progressive pulmonary insufficiency, pancreatic insufficiency (steatorrhea, FTT), high sweat electrolytes
CF
284
meconium ileus at birth
CF
285
PFTs of CF
decreased respiratory flow rates (obstruction) and then eventually decreased lung volumes (restriction)
286
common organisms in CF pneumonia
staph aureus and then **pseudomonas aeruginosa
287
aside from recurrent pneumonia, bronchiectasis, pulmonary fribrosis, cor pulmonale, this feature can be seen in CF
nasal polyps
288
in CF sweat chloride is _____
| what are the serum electrolytes like?
> 60 mmol/L
| hyponatremic, hypochloremic, hypokalemic metabolic alkalosis
289
tx for CF
```
abx
pulmonary toilet
bronchodilators for wheezing
good nutrition, pancreatic enzyme replacement, fat soluble vitamins
oxygen
lung transplant
psych support
```
290
define chronic lung disease
oxygen dependency beyond 28 days
291
MCC cause of chronic lung disease
premature children with respiratory distress syndrome (hyaline membrane disease or surfactant deficiency)
292
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
293
CXR of chronic lung disease (aka bronchopulmonary dysplasia)
hyperinflation
atelectasis
linear or cystic radiodensities
294
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
```
295
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
296
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
297
how to tx foreign body aspiration
cough it up
| if not, bronchoscopy to remove it
298
unexplained cessation of breathing for > 20 seconds
apnea of infancy or prematurity
299
three or more respiratory pauses lasting at least 3 seconds each, with less than 20 secs of normal respiration in between
periodic breathing
300
peak ages of SIDS
2-4 months
301
cause of apnea of prematurity
immature central respiratory center control
