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NUNA 692 Principles III > congenital diseases > Flashcards

congenital diseases Flashcards

1
Q

MH characteristics

A
  • physical contraction
  • energy consumption
  • anaerobic metabolism
  • production of heat
  • lactate
  • CO2
  • cell damage
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2
Q

MH is an uncommon, life-threatening _________ ______ of _______ _____

A

hypermetabolic disorder of skeletal muscles

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3
Q

MH is triggered in individuals by _____ _____ and the _________ muscle relaxant, ______

A

volatile anesthetics and the depolarizing muscle relaxant, sux

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4
Q

MH results in:

A
  • sustained muscle contraction
  • hypercarbia
  • tachycardia
  • tachypnea
  • hyperkalemia
  • acidosis
  • increased temperature
  • myoglobinuria
  • mottling
  • decreased SaO2
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5
Q

incidence is greater in _______ than ______

A

children
adults

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6
Q

peak age of incidence

A

3 years old

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7
Q

majority of decreased incidence of MH d/t: (2)

A
  1. better ID of susceptible patients
  2. decreased use of sux (esp in kids)
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8
Q

majority of MH due to abnormal ______ gene on chromosome ______

A

RyR1
19q13.1

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9
Q

1% of MH due to ______ on _______

A

CACNA1S on 1q32

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10
Q

usual first clinical sign

A

uncontrolled hypercarbia

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11
Q

_________ is now considered one of the 3 early signs

A

hyperthermia

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12
Q

1C every ______ minutes

A

10

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13
Q

3 early signs

A

hypercarbia, hyperthermia, tachycardia

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14
Q

unstable hemodynamics with possible ______ dysrhythmias, pulm edema, ______, cerebral ____/_____ and _____ failure

A

ventricular
DIC
hypoxia/edema
renal

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15
Q

usually

A

intraoperative

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16
Q

only ____ occur postop

A

2%

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17
Q

up to _____ have had 2 or more uneventful GAs in the past

A

50%

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18
Q

less than ____ have a _____ family history

A

7%
positive

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19
Q

_______ ryanodine receptor (RyR1) variants

A

> 300

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20
Q

about ____ cause MH

A

30

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21
Q

variable ______ ______ leads to difficult diagnosis

A

clinical presentation

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22
Q

dysfunction RyR1 receptor: (2)

A
  1. opens the Ca++ channel more easily
  2. causes the channel to stay open longer in the presence of triggers
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23
Q

muscle depolarizations signals _____ opening

A

RyR1

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24
Q

sustained Ca overwhelms the natural reuptake into the ______ _____

A

sarcoplasmic reticulum

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25
Q

leading to sustained muscle contraction and uncontrollable ______ and ______ metabolism

A

aerobic and anaerobic

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26
Q

which leads to severe _______ and _______

A

acidosis and hyperthermia

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27
Q

if this process is not reversed, _____ is depleted

A

ATP

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28
Q

muscle cell ______ ensues resulting in death and rhabdo with massive ________ and ________

A

hypoxia
hyperkalemia and myoglobinuria

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29
Q

Dantrolene - binds to the RyR1 to promote: (2)

A
  1. closing state
  2. Ca reuptake into the SR
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30
Q

get a family hx of anesthesia, patients with blood relatives with known MH or myopathy with high association to MH, use:

A

non-triggering anesthetics

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31
Q

make sux

A

unavailable

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32
Q

tape or disengage

A

vaporizers

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33
Q

replace the

A

CO2 absorbant

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34
Q

flush machine with ___L/min O2 or follow manufacturers guidelines because some need up to _____ mins of flush time

A

10
120

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35
Q

consider _____ filters

A

charcoal

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36
Q

typical for peds: _____ pre-op, ____ _____ for IV start

A

versed
70% N2O

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37
Q

for all patients: maintain with _____ which includes:

A

TIVA
propofol, opioids, non-depolarizing muscle relaxants (some add N2O)

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38
Q

monitor (3) for temp

A

esophageal
axillary
naso-pharyngeal

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39
Q

_______- not reliable for MH monitoring

A

skin temp

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40
Q

if MH suspected intraop, dc ______ _______ and no ________

A

volatile anesthetic
no sux

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41
Q

get help, get MH cart, alert surgeon and ____ ____ ____

A

call MHAUS hotline

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42
Q

hyperventilate with 100% O2 at a minimum of _______ flow

A

10L/min

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43
Q

give dantrolene ______

A

2.5 mg/kg

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44
Q

repeat every _______ until symptoms subside

A

5-10 mins

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45
Q

must continue _____ and _____, give _____, ______, ______

A

amnesia and analgesia
benzos, prop, and opioids

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46
Q

for fever, institute _____ _____

A
  • surface cooling (hypothermia blanket, ice packs, ice tube)
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47
Q

invasive cooling only for ________ hypothermia which includes:

A

non-responsive
chilled NS to oro-gastric, bladder, or open cavity lavage

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48
Q

stop cooling mesures at _____

A

38C to avoid hypothermia

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49
Q

insert ____ _____

A

foley catheter

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50
Q

_________ should self correct with treatment but persistent or life-threatening ones should be treated

A

dysrhythmias

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51
Q

_____ ______ ____ are CONTRAINDICATED with dantrolene

A

calcium channel blockers

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52
Q

______, ________, ________ checks q15 mins until stable

A

ABGs, glucose, electrolytes

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53
Q

________ for acidosis

A

NaHCO3 (1-2 mg/kg)

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54
Q

check _____, urine ______, _____, ______

A

coags, urine myoglobin, CK and LFTs

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55
Q

treat hyperkalemia by

A

hyperventilating, NaHCO3, insulin/glucose

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56
Q

keep urine out _____ with:

A

> 2ml/kg/hr with fluids, lasix, and mannitol

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57
Q

dantrolene has skeletal muscle relaxant properties at the ________ level rather than the _________

A

intracellular
NMJ

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58
Q

dantrolene inhibits the release of _____ from the _____ during excitation-contraction coupling and suppresses the uncontrolled _____ ______

A

ca
SR
ca release

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59
Q

load with _____

A

2.5 mg/kg

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60
Q

symptoms should abate in _________, and if not redose every _______ as needed

A

3-5 minutes
5-10 minutes

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61
Q

dantrolene _______ q ____ hours for every _____-_____ hours to prevent reoccurence

A

1 mg/kg q6 hours for every 24-48 hours

62
Q

dantrolene pH

A

9.5

63
Q

bc dantrolene has MR properties, pt will need _____ ______

A

post-op ventilation

64
Q

dantrium and revonto are reconstituted with

A

60 ml/vial

65
Q

ryanodex is reconstituted with

A

5 ml/vial

66
Q

dantrolene reduces the mortality rate of MH from > _____ to ______

A

40% to 1.4%

67
Q

when time between initial sign of MH and dantrolene exceeds 20 minutes, complication rates increase to greater than _____

A

30%

68
Q

when time exceeds 50 minutes, complication rates are increased to _____

A

100%

69
Q

PICU post op until metabolic indices normal for ______

A

2-3 days

70
Q

monitor _____, _____, _____

A

ABGs, electrolytes, and coags

71
Q

if POST pubescent, refer to MH diagnostic biopsy center for _____

A

CHCT

72
Q

if PRE pubescent, pt should have ______ _____

A

medicalert bracelet

73
Q

submit a report to the:

A

north american malignant hyperthermia registry

74
Q

gold standard and only definitive test for MH

A

CHCT - caffeine-halothane contracture test

75
Q

molecular genetic test is ______ expensive, ____ invasive, but ____ _____

A

less expensive
less invasive
NOT definitive

76
Q

molecular genetic testing can help verify MH ______-_____ whereas CHCT cannot

A

post-mortem

77
Q

this helps _____ _____ with same genetics

A

ID family

78
Q

other common congenital disorders

A
  • muscular dystrophy
  • trisomy 21
  • cystic fibrosis
  • sickle cell anemia
79
Q

_____ muscular dystrophy disorders occurring in infancy, childhood, or adulthood

A

> 30

80
Q

muscular dystrophies are characterized by:

A
  • muscle weakness
  • contractures
  • depressed reflexes
  • respiratory weakness
  • heart muscle weakness
  • can have learning disabilities, deafness, vision deficits
81
Q

No ______ for muscular dystrophies

A

cure

82
Q

only ______ _______ to slow, halt, or reverse

A

pharmacologic treatment

83
Q

most common in general population:

A

myotonic dystrophy

84
Q

second most common MD

A

dystrophinopathy class

85
Q

the dystrophinopathy class is _____-_____ ______ to sons only

A

x-linked recessive (inherited from mother)

86
Q

dystrophin deficiency leads to weakened _____ _____

A

myocyte membrane

87
Q

most severe phenotype is:

A

duchenne MD

88
Q

less severe phenotype is

A

Becker MD

89
Q

CPK can be _____ greater than normal

A

100x

90
Q

______–______ before adolescence

A

wheelchair-bound

91
Q

______, _____, and ______ complications increase with age

A

respiratory, ortho, and cardiac

92
Q

by ____, serial ECHOs are done to evaluate _______

A

8 yrs old
cardiomyopathy

93
Q

treatment: usually ______

A

glucocorticoids (usually prednisone) which only slows down progression

94
Q

anesthesia implications for duchenne muscular dystrophy (DMD) depend on

A

age and severity

95
Q

DMD triggers _____ and _____ which cause severe ______, ______, and cardiac arrest

A

volatiles and sux
rhabdo and hyperkalemia

96
Q

DMD sux induced cardiac arrest = _____ mortality

A

30%

97
Q

frequent first sign of DMD is

A

cardiac arrest during inhalation induction

98
Q

in adolescence, progressive ____ and ______ dysfunction are major concerns

A

cardiac and respiratory

99
Q

studies r/t volatiles/DMD/MH ongoing but most clinicians using ____-_____ (___) techniques

A

non-triggering (TIVA)

100
Q

always question family regarding family hx of _____ _____, BUT ____ of DMDs have negative family hx

A

muscle weakness
30%

101
Q

suspicion for DMD? draw a preop _____

A

CPK

102
Q

if CPK is elevated in the presence of questionable dystrophy, ____-____ ______ is best

A

non-triggering technique is best

103
Q

regardless of CPK, non-triggering technique for ______ ______ is probably safest

A

unidentified dystrophy

104
Q

most frequent chromosomal abnormality

A

trisomy 21 - downs

105
Q

downs incidence

A

1/800

106
Q

sharp increase in downs with advanced

A

maternal age

107
Q

downs features

A
  • microcephaly, short neck, small/low set ears
  • developmentally delayed, cervical spine disorders
  • macroglossia, mandibular hypoplasia, hypertrophic lymphatics (tonsils, adenoids), and hypotonia which can lead to airway obstruction and sleep apnea
108
Q

up to 50% of downs have

A

CARDIAC defects (VSD, TOF, PDA, AV septal defects)

109
Q

downs have _______ during induction, consider:

A

bradycardia
pre-treatment with an anticholinergic

110
Q

must know their

A

cardiac status

111
Q

prone to

A

PHTN

112
Q

known _______ difficulty

A

airway/mask/INTUBATION

113
Q

cystic fibrosis is _______ _______, 1200 mutations, and an incidence of __/___ caucasian

A

autosomal recessive
1/2000

114
Q

CF is ______ ______ dysfunction

A

electrolyte transport (sweat glands, airways, GI systems)

115
Q

there is ______ in disease severity

A

variability

116
Q

CF lung dz characteristics

A
  • mucus plugs
  • chronic infection
  • inflammation
  • permanent damage
117
Q

CF is categorized as obstructive disease with increased _____, decreased _____, decreased ____ ____, and decreased _______

A

increased FRC
decreased FEV1, exp flow, VC

118
Q

CF exacerbation

A

acute system changes, usually resp

119
Q

malnutrition and CF related _____ common

A

DM

120
Q

they have _____ dysfunction which can lead to _____ disorders

A

hepatic
clotting

121
Q

common CF procedures

A

ENT (bronchial lavage, FESS)
GI (cholecystectomy, G tubes)

122
Q

pre op eval needs good hx of:

A
  • infections
  • hospitalizations
  • meds
  • PFTs
123
Q

consider

A
  • ABG
  • CXR
  • LFTs
  • ECHO for big cases
124
Q

_____ tolerance good indicator of dz severity

A

exercise

125
Q

use ______ circuit or _____

A

humidified
HME

126
Q

Use short acting agents like:

A

-des
-sevo
-remi
-prop
-low dose fent

127
Q

_______ and _____- good choices

A

atricurium and cisat

128
Q

try to avoid ______ and ______

A

neostigmine and anticholinergics

129
Q

______- are good choices if no clotting issues

A

regionals

130
Q

______ _______/______ before extubate

A

saline lavage/deep suction

131
Q

extubate

A

fully awake

132
Q

increasing longevity, more CF adults requiring ____

A

GA

133
Q

sickle cell disease is inherited __________, mutant ______ autosomal recessive

A

hemoglobinopathy
Hgb A

134
Q

life expectancy

A

30 years

135
Q

crisis =

A

exacerbation of pain due to sickling

136
Q

acute chest syndrome (ACS)

A

more likely to occur post op after extensive sx, pulm infection, pregnancy, increased age

137
Q

can develop _____ which increases risk of _____ ____

A

PAH/PHTN
sudden death

138
Q

prone to ____ overload d/t chronic transfusions

A

iron

139
Q

admit pre-op for _______/_______

A

hydration/transfusion

140
Q

prophylactic transfusion is

A

controversial

141
Q

current rec: if transfusing to decrease ACS, transfuse to

A

Hct of 30%

142
Q

anesthesia implications: ______ good choice, ____, _____, _____

A

regional
WARM, WET, and GREEN

143
Q

beware of funny faces

A
  • pierre robin
  • crouzons
  • treacher collins
  • goldenhar
  • aperts
  • arthrogryposis
  • noonans
  • beckwith-wiedemann
144
Q

pierre robins

A
  • micrognathia
  • glossoptosis (caudally displaced insertion of the tongue)
  • resp distress in 1st 24 hrs - often need emergent trach
  • high arched palates
  • EXTREMELY difficult intubation - the most difficult
145
Q

crouzons

A
  • maxillary hypoplasia
  • inverted v-shaped palate
  • large tongue
  • DIFFICULT intubation
  • frequently require trachs
  • shallow orbits and exapthalmos
  • craniosynostosis
146
Q

treacher collins

A
  • mandibular hypoplasia
  • DIFFICULT intubation
  • often have cleft lip, choanal atresia, c-spine abnormalities, CONGENITAL HEART DZ
  • macro or microstomia
147
Q

goldenhar (oculo-auriculovertebral syndrome)

A
  • hypoplastic zygomatic arch
  • mandibular hypoplasia
  • potentially DIFFICULT airway
  • macrostomia
  • often have cleft palate, cleft tongue, TE fistula
  • hydrocephalus
  • cervical spine defects
148
Q

aperts (acrocephalosyndactyly syndrome)

A
  • maxillary hypoplasia
  • narrow palate
  • often have cleft palate
  • potentiatlly DIFFICULT airway
  • craniosynostosis
  • syndactyly
  • often have CONGENITAL HEAR DEFECTS, hydronephrosis, polycystic kidneys, esophageal atresia
149
Q

arthrogryposis

A
  • hypoplastic mandible
  • cleft palate
  • torticollis
  • scoliosis
  • klippel-feil syndrome (abnormal fusion of cervical vertebrae, short neck, limited ROM)
  • potentially DIFFICULT airway
  • OFTEN HAVE VSD
150
Q

noonans (turners syndrome)

A
  • narrow maxilla
  • small mandible
  • short neck
  • potentially DIFFICULT airway
  • hypogonadism
  • COARCTATION OF AORTA IN FEMALES, COARCTATION OF PA IN MALES
151
Q

beckwith-wiedemann (infantile gigantism)

A
  • macroglossia
  • often requires partial glossectomy
  • DIFFICULT intubation
  • hypoglycemia
  • polycythemia
  • enlarged HEART, kidneys, liver, spleen
  • omphalocele
  • diaphragmatic hernia

NUNA 692 Principles III (20 decks)

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