congenital diseases Flashcards
MH characteristics
- physical contraction
- energy consumption
- anaerobic metabolism
- production of heat
- lactate
- CO2
- cell damage
MH is an uncommon, life-threatening _________ ______ of _______ _____
hypermetabolic disorder of skeletal muscles
MH is triggered in individuals by _____ _____ and the _________ muscle relaxant, ______
volatile anesthetics and the depolarizing muscle relaxant, sux
MH results in:
- sustained muscle contraction
- hypercarbia
- tachycardia
- tachypnea
- hyperkalemia
- acidosis
- increased temperature
- myoglobinuria
- mottling
- decreased SaO2
incidence is greater in _______ than ______
children
adults
peak age of incidence
3 years old
majority of decreased incidence of MH d/t: (2)
- better ID of susceptible patients
- decreased use of sux (esp in kids)
majority of MH due to abnormal ______ gene on chromosome ______
RyR1
19q13.1
1% of MH due to ______ on _______
CACNA1S on 1q32
usual first clinical sign
uncontrolled hypercarbia
_________ is now considered one of the 3 early signs
hyperthermia
1C every ______ minutes
10
3 early signs
hypercarbia, hyperthermia, tachycardia
unstable hemodynamics with possible ______ dysrhythmias, pulm edema, ______, cerebral ____/_____ and _____ failure
ventricular
DIC
hypoxia/edema
renal
usually
intraoperative
only ____ occur postop
2%
up to _____ have had 2 or more uneventful GAs in the past
50%
less than ____ have a _____ family history
7%
positive
_______ ryanodine receptor (RyR1) variants
> 300
about ____ cause MH
30
variable ______ ______ leads to difficult diagnosis
clinical presentation
dysfunction RyR1 receptor: (2)
- opens the Ca++ channel more easily
- causes the channel to stay open longer in the presence of triggers
muscle depolarizations signals _____ opening
RyR1
sustained Ca overwhelms the natural reuptake into the ______ _____
sarcoplasmic reticulum
leading to sustained muscle contraction and uncontrollable ______ and ______ metabolism
aerobic and anaerobic
which leads to severe _______ and _______
acidosis and hyperthermia
if this process is not reversed, _____ is depleted
ATP
muscle cell ______ ensues resulting in death and rhabdo with massive ________ and ________
hypoxia
hyperkalemia and myoglobinuria
Dantrolene - binds to the RyR1 to promote: (2)
- closing state
- Ca reuptake into the SR
get a family hx of anesthesia, patients with blood relatives with known MH or myopathy with high association to MH, use:
non-triggering anesthetics
make sux
unavailable
tape or disengage
vaporizers
replace the
CO2 absorbant
flush machine with ___L/min O2 or follow manufacturers guidelines because some need up to _____ mins of flush time
10
120
consider _____ filters
charcoal
typical for peds: _____ pre-op, ____ _____ for IV start
versed
70% N2O
for all patients: maintain with _____ which includes:
TIVA
propofol, opioids, non-depolarizing muscle relaxants (some add N2O)
monitor (3) for temp
esophageal
axillary
naso-pharyngeal
_______- not reliable for MH monitoring
skin temp
if MH suspected intraop, dc ______ _______ and no ________
volatile anesthetic
no sux
get help, get MH cart, alert surgeon and ____ ____ ____
call MHAUS hotline
hyperventilate with 100% O2 at a minimum of _______ flow
10L/min
give dantrolene ______
2.5 mg/kg
repeat every _______ until symptoms subside
5-10 mins
must continue _____ and _____, give _____, ______, ______
amnesia and analgesia
benzos, prop, and opioids
for fever, institute _____ _____
- surface cooling (hypothermia blanket, ice packs, ice tube)
invasive cooling only for ________ hypothermia which includes:
non-responsive
chilled NS to oro-gastric, bladder, or open cavity lavage
stop cooling mesures at _____
38C to avoid hypothermia
insert ____ _____
foley catheter
_________ should self correct with treatment but persistent or life-threatening ones should be treated
dysrhythmias
_____ ______ ____ are CONTRAINDICATED with dantrolene
calcium channel blockers
______, ________, ________ checks q15 mins until stable
ABGs, glucose, electrolytes
________ for acidosis
NaHCO3 (1-2 mg/kg)
check _____, urine ______, _____, ______
coags, urine myoglobin, CK and LFTs
treat hyperkalemia by
hyperventilating, NaHCO3, insulin/glucose
keep urine out _____ with:
> 2ml/kg/hr with fluids, lasix, and mannitol
dantrolene has skeletal muscle relaxant properties at the ________ level rather than the _________
intracellular
NMJ
dantrolene inhibits the release of _____ from the _____ during excitation-contraction coupling and suppresses the uncontrolled _____ ______
ca
SR
ca release
load with _____
2.5 mg/kg
symptoms should abate in _________, and if not redose every _______ as needed
3-5 minutes
5-10 minutes
dantrolene _______ q ____ hours for every _____-_____ hours to prevent reoccurence
1 mg/kg q6 hours for every 24-48 hours
dantrolene pH
9.5
bc dantrolene has MR properties, pt will need _____ ______
post-op ventilation
dantrium and revonto are reconstituted with
60 ml/vial
ryanodex is reconstituted with
5 ml/vial
dantrolene reduces the mortality rate of MH from > _____ to ______
40% to 1.4%
when time between initial sign of MH and dantrolene exceeds 20 minutes, complication rates increase to greater than _____
30%
when time exceeds 50 minutes, complication rates are increased to _____
100%
PICU post op until metabolic indices normal for ______
2-3 days
monitor _____, _____, _____
ABGs, electrolytes, and coags
if POST pubescent, refer to MH diagnostic biopsy center for _____
CHCT
if PRE pubescent, pt should have ______ _____
medicalert bracelet
submit a report to the:
north american malignant hyperthermia registry
gold standard and only definitive test for MH
CHCT - caffeine-halothane contracture test
molecular genetic test is ______ expensive, ____ invasive, but ____ _____
less expensive
less invasive
NOT definitive
molecular genetic testing can help verify MH ______-_____ whereas CHCT cannot
post-mortem
this helps _____ _____ with same genetics
ID family
other common congenital disorders
- muscular dystrophy
- trisomy 21
- cystic fibrosis
- sickle cell anemia
_____ muscular dystrophy disorders occurring in infancy, childhood, or adulthood
> 30
muscular dystrophies are characterized by:
- muscle weakness
- contractures
- depressed reflexes
- respiratory weakness
- heart muscle weakness
- can have learning disabilities, deafness, vision deficits
No ______ for muscular dystrophies
cure
only ______ _______ to slow, halt, or reverse
pharmacologic treatment
most common in general population:
myotonic dystrophy
second most common MD
dystrophinopathy class
the dystrophinopathy class is _____-_____ ______ to sons only
x-linked recessive (inherited from mother)
dystrophin deficiency leads to weakened _____ _____
myocyte membrane
most severe phenotype is:
duchenne MD
less severe phenotype is
Becker MD
CPK can be _____ greater than normal
100x
______–______ before adolescence
wheelchair-bound
______, _____, and ______ complications increase with age
respiratory, ortho, and cardiac
by ____, serial ECHOs are done to evaluate _______
8 yrs old
cardiomyopathy
treatment: usually ______
glucocorticoids (usually prednisone) which only slows down progression
anesthesia implications for duchenne muscular dystrophy (DMD) depend on
age and severity
DMD triggers _____ and _____ which cause severe ______, ______, and cardiac arrest
volatiles and sux
rhabdo and hyperkalemia
DMD sux induced cardiac arrest = _____ mortality
30%
frequent first sign of DMD is
cardiac arrest during inhalation induction
in adolescence, progressive ____ and ______ dysfunction are major concerns
cardiac and respiratory
studies r/t volatiles/DMD/MH ongoing but most clinicians using ____-_____ (___) techniques
non-triggering (TIVA)
always question family regarding family hx of _____ _____, BUT ____ of DMDs have negative family hx
muscle weakness
30%
suspicion for DMD? draw a preop _____
CPK
if CPK is elevated in the presence of questionable dystrophy, ____-____ ______ is best
non-triggering technique is best
regardless of CPK, non-triggering technique for ______ ______ is probably safest
unidentified dystrophy
most frequent chromosomal abnormality
trisomy 21 - downs
downs incidence
1/800
sharp increase in downs with advanced
maternal age
downs features
- 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
up to 50% of downs have
CARDIAC defects (VSD, TOF, PDA, AV septal defects)
downs have _______ during induction, consider:
bradycardia
pre-treatment with an anticholinergic
must know their
cardiac status
prone to
PHTN
known _______ difficulty
airway/mask/INTUBATION
cystic fibrosis is _______ _______, 1200 mutations, and an incidence of __/___ caucasian
autosomal recessive
1/2000
CF is ______ ______ dysfunction
electrolyte transport (sweat glands, airways, GI systems)
there is ______ in disease severity
variability
CF lung dz characteristics
- mucus plugs
- chronic infection
- inflammation
- permanent damage
CF is categorized as obstructive disease with increased _____, decreased _____, decreased ____ ____, and decreased _______
increased FRC
decreased FEV1, exp flow, VC
CF exacerbation
acute system changes, usually resp
malnutrition and CF related _____ common
DM
they have _____ dysfunction which can lead to _____ disorders
hepatic
clotting
common CF procedures
ENT (bronchial lavage, FESS)
GI (cholecystectomy, G tubes)
pre op eval needs good hx of:
- infections
- hospitalizations
- meds
- PFTs
consider
- ABG
- CXR
- LFTs
- ECHO for big cases
_____ tolerance good indicator of dz severity
exercise
use ______ circuit or _____
humidified
HME
Use short acting agents like:
-des
-sevo
-remi
-prop
-low dose fent
_______ and _____- good choices
atricurium and cisat
try to avoid ______ and ______
neostigmine and anticholinergics
______- are good choices if no clotting issues
regionals
______ _______/______ before extubate
saline lavage/deep suction
extubate
fully awake
increasing longevity, more CF adults requiring ____
GA
sickle cell disease is inherited __________, mutant ______ autosomal recessive
hemoglobinopathy
Hgb A
life expectancy
30 years
crisis =
exacerbation of pain due to sickling
acute chest syndrome (ACS)
more likely to occur post op after extensive sx, pulm infection, pregnancy, increased age
can develop _____ which increases risk of _____ ____
PAH/PHTN
sudden death
prone to ____ overload d/t chronic transfusions
iron
admit pre-op for _______/_______
hydration/transfusion
prophylactic transfusion is
controversial
current rec: if transfusing to decrease ACS, transfuse to
Hct of 30%
anesthesia implications: ______ good choice, ____, _____, _____
regional
WARM, WET, and GREEN
beware of funny faces
- pierre robin
- crouzons
- treacher collins
- goldenhar
- aperts
- arthrogryposis
- noonans
- beckwith-wiedemann
pierre robins
- 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
crouzons
- maxillary hypoplasia
- inverted v-shaped palate
- large tongue
- DIFFICULT intubation
- frequently require trachs
- shallow orbits and exapthalmos
- craniosynostosis
treacher collins
- mandibular hypoplasia
- DIFFICULT intubation
- often have cleft lip, choanal atresia, c-spine abnormalities, CONGENITAL HEART DZ
- macro or microstomia
goldenhar (oculo-auriculovertebral syndrome)
- hypoplastic zygomatic arch
- mandibular hypoplasia
- potentially DIFFICULT airway
- macrostomia
- often have cleft palate, cleft tongue, TE fistula
- hydrocephalus
- cervical spine defects
aperts (acrocephalosyndactyly syndrome)
- maxillary hypoplasia
- narrow palate
- often have cleft palate
- potentiatlly DIFFICULT airway
- craniosynostosis
- syndactyly
- often have CONGENITAL HEAR DEFECTS, hydronephrosis, polycystic kidneys, esophageal atresia
arthrogryposis
- hypoplastic mandible
- cleft palate
- torticollis
- scoliosis
- klippel-feil syndrome (abnormal fusion of cervical vertebrae, short neck, limited ROM)
- potentially DIFFICULT airway
- OFTEN HAVE VSD
noonans (turners syndrome)
- narrow maxilla
- small mandible
- short neck
- potentially DIFFICULT airway
- hypogonadism
- COARCTATION OF AORTA IN FEMALES, COARCTATION OF PA IN MALES
beckwith-wiedemann (infantile gigantism)
- macroglossia
- often requires partial glossectomy
- DIFFICULT intubation
- hypoglycemia
- polycythemia
- enlarged HEART, kidneys, liver, spleen
- omphalocele
- diaphragmatic hernia
