TCP Week 3 (Special Populations in Pediatrics)

pathway of fetal heart circulation

Placenta exchanges CO2 and urea from baby via 2 umbilical arteries in exchange for O2, glucose, and other nutrients

VERY well oxygenated blood from placenta → 1 large umbilical vein → splits

• >50% enters IVC through the ductus venosus (bypasses liver)

•

after birth and the first breath, what happens to the CV system (3 changes)?

Expansion, Opening, Closing:

Expansion of Lungs: Lungs now function due to decrease in pulm vasculature resistance

Open: Systemic vasculature resistance increases closing off placental circulation

Closure: foramen ovale (in 1-3 mon) and ductus arteriosus in days!!

central cyanosis after birth

(bluish lips and eyelids) is NORMAL

if cyanosis after birth extends beyond mucous membranes besides lips and eyelids, this is

ABNORMAL and PATHOLOGIC

Monitor for:

- Respiratory: tachypnea, flaring, retractions, wheezing

- Vascular: pallor, lethargy, poor pulses/capillary refill

- Failure to thrive in longer term

- Vital signs: BP and HR

Think heart failure and shock!

what are the normal heart murmurs?

- stills

- pulmonary flow/ejection murmur

still murmur (age group, sound, where it is best heard, and cause)

Age group: 2-7 y/o, school age, seen in adults

Listen for: "washing machine", "musical twang", early to mid systolic, short, Grade 1-2 intensity

Best Heard: LLSB, supine, fever/exercise/stress

Cause: Debatable and largely unknown: aortic murmur, issues MV cord

pulmonary flow/ejection murmur (age group, sound, where it is best heard, and cause)

Age group: 8-14 y/o, school age and adolescents, 0.6-0.8 per 1000

Listen for: "blowing" "harsh", mid systolic

Best Heard: LUSB II ICS, supine, fever/exercise/stress

Cause: Rapid blood flow across the normal functioning pulmonary valve, normal

picture of the normal vitals by age

BP:

Premie

0-3m

3-6m

6-12m

1-3y

3-6y

6-12y

>12y

Premie: 55-75/35-45

0-3m: 65-85/45-55

3-6m: 70-90/50-65

6-12m: 80-100/55-65

1-3y: 90-105/55-70

3-6y: 95-110/60-75

6-12y: 100-120/60-75

>12y: 100-120/70-80

HR:

Premie

0-3m

3-6m

6-12m

1-3y

3-6y

6-12y

>12y

Premie: 120-170

0-3m: 110-160

3-6m: 100-150

6-12m: 90-130

1-3y: 80-125

3-6y: 70-115

6y+: 60-100

RR:

Premie

0-3m

3-6m

6-12m

1-3y

3-6y

6-12y

>12y

Premie: 40-70

0-3m: 30-60

3-6m: 30-45

6-12m: 25-40

1-3y: 20-30

3-6y: 20-25

6-12y: 14-22

>12y: 12-18

overview of congenital heart disease

up to 90% of peds cardiology is CHD

1% of births in US, lead cause of death in 1st yr of life (excluding prematurity)

In first 6 months, VSD + PDA MC cause of HF, which manifests w/ FTT

causes of congenital heart disease (prenatal)

- maternal rubella

- DM insulin dependence

- alcoholism

- advanced maternal age

causes of congenital heart disease (environmental)

- high altitude

- h/o radiation

causes of congenital heart disease (drugs)

- lithium

- phenytoin

- warfarin

causes of congenital heart disease (genetic)

- Trisomy 13 + 18 + 21

- Turner

what are the two general categories of congenital heart disease?

Acyanotic: (L→R shunt), increase pulm blood flow

Cyanotic: (R→L shunt), decrease pulm blood flow

VSD (incidence)

Second most common heart defect (behind bicuspid aortic valve), most common CHD for children; more male infants

VSD (pathophysiology)

size + pulm vasc resistance pressure = shunt direction

small defect: L → R shunt (L side less pressure)

large and complicated: R→ L shunt (Eisenmenger sdr)

VSD (symptoms)

Size dependent:

- FFT

- SOB

- clubbing

VSD (sound and location)

sound: loud holosystolic murmur

location: 3rd-4th ICS along LSD

VSD (eval and Tx)

Eval: ECHO

Tx:

small: majority spontaneously close during first 2 years of life (acyonotic, small)

large: surgical repair and HF medication (cyanotic, large)

ASD (incidence)

3nd most common, 10-15% of CHD; 2:1 female to male

ASD (pathophys)

L → R shunt, failure of septal tissue forming

Larger than PFO, often a large cause for thrombus to cross over

ASD (symptoms)

generally asx (esp bc typically acyonotic), but size dependent

ASD (sound and location)

Sound: systolic ejection crescendo-decrescendo, widely split S2

Location: LUSB/pulmonic area

ASD (eval and Tx)

Eval:

- Echo (mainstay)

- CXR w/ cardiomegaly

- ECG w/ incomplete RBB and RVH

Tx:

- spontaneous closure 90% (esp if

list the acyanotic (L->R) murmurs

- VSD (if small)

- ASD

- PDA

patent ductus arteriosus (PDA) (incidence)

More common in prematurity, 3-8 per 10,000 live births, more female and AA, maternal rubella, genetic conditions

*normal anatomical ft for a fetus, should go away though

patent ductus arteriosus (PDA) (pathophys)

L → R shunt between aorta and PA

patent ductus arteriosus (PDA) (symptoms)

generally asymptomatic, but again size dependent, can cause FTT and endocarditis

patent ductus arteriosus (PDA) (sound and location)

sound: machinery-like murmur

location: 2nd IC space/LUSB

bounding peripheral pulses and wide pulse pressure

patent ductus arteriosus (PDA) (eval and tx)

Eval:

- Echo

- ECG w/ LVH

- CXR w/ cardiomegaly

Tx:

indomethacin: for closure

Tetralogy of Fallot (incidence)

Most common cyanotic CHD; without repair: mortality 50% in 3 years, 90% in 20 years

Tetralogy of Fallot (pathophys)

R → L shunt

• VSD

• right ventricle outflow obstruction/pulmonary stenosis

• aortic override that straddles the VSD

• right ventricular hypertrophy

blood "mixing"

Tetralogy of Fallot (symptoms)

- cyanotic

- DOE

- hyercyanotic spells called "tet spells"

- squatting helps increase systemic resistance → decreasing venous return to the heart → more O2 blood available to the body

Tetralogy of Fallot (sound and location)

- harsh holosystolic murmur at LSB

- loud single S2

Tetralogy of Fallot (eval and Tx)

Eval:

- Echo (mainstay)

- ECG w/ RVH

- CXR w/ boot-shape heart

Tx:

PGE1 (prostaglandins): to keep PDA since pulmonary stenosis is severe

surgery

transportation of great arteries (ToGA) (incidence)

Much more common in boys 4:1

transportation of great arteries (ToGA) (pathophys)

R → L shunt & cyanotic, early and progressive, parallel circuits of unoxygenated blood

- Aorta arises from the RV

- PA arises from LV

- Better prognosis with an ASD or VSD to allow blood mixing.

transportation of great arteries (ToGA) (symptoms)

progressive cyanosis

transportation of great arteries (ToGA) (sound and location)

- NO MURMUR unless comorbid VSD

- loud single S2 due to aortic valve closer to chest wall than the pulmonic

transportation of great arteries (ToGA) (eval and Tx)

Eval:

Echo

CXR triad:

- "egg on string" (in image)

- increase pulm vasc congestion

- cardiomegaly

Tx:

PGE1(prostaglandins): to allow PDA, which allows for mixture of systemic and pulmonary blood

Surgery

TORCH

Toxoplasmosis

Other (syphilis, varicella-zoster, parvovirus B19)

Rubella

Cytomegalovirus (CMV)

Herpes infections

All can cause congenital infections and produce thromobocytopenia, thrombotic thrombocytopenia purpura (TTP) or blueberry muffin rash

congenital toxoplasmosis (incidence)

transmitted by:

- cat litter

- pork

- lamb

worse if mom is infected later in preg

congenital toxoplasmosis (pathophys)

- toxoplasma gondii (protozoan)

- opportunistic

congenital toxoplasmosis (s/sx and PE)

- TTP

- heptosplenomegaly

- hearing loss

- cognitive deficits

- chorioentinitis and encephalitis

- fever

- seizure

congenital toxoplasmosis (eval)

Labs:

- PCR from amnio

- IgG and IgM

Imaging:

adult: head CT with ring enhancing lesions

kids: intracranial calcifications for kids on US

congenital toxoplasmosis (Tx)

sulfadiazine + pyrimethamine + leucovorin (all x 1yr): to prevent bone marrow suppression and reduce nephro tox

sometimes w/ prednisone

congenital rubella (incidence)

first 3 months of pregnancy, almost eradicated in US

congenital rubella (pathophys)

togavirus, from respiratory droplet, teratogenic

congenital rubella (S/S and PE)

- TTP

- sensorineural deafness

- cognitive deficits

- cataracts

- heart defects (PDA, pulmonary stenosis, coarc of aorta)

congenital rubella (eval)

- + IgM and + IgG

- PCR or viral culture

- CBC may show low platelets

congenital rubella (Tx)

- No official cure

- ? Immune globulin therapy

- if severe an indication for abortion

congenital CMV (HHV5) (incidence)

present in most people (70%) but problematic if congenital, most common congenital infectious cause of hearing loss and cognitive deficits

congenital CMV (HHV5) (pathophys)

HHV 5, opportunistic

congenital CMV (HHV5) (S/S and PE)

- TTP

- hepatosplenomegaly

- mental and motor delays

- retinitis causing hemorrhages w/ soft exudates (pizza pie fundoscopic exam, scrambled eggs/ketchup)

- pneumonia

- hepatitis

congenital CMV (HHV5) (eval)

Labs:

CBC and serologies, liver function studies, creatinine, PCR

Diagnostics:

- CXR

- Tissue biopsy showing Owl's eye (epithelial cells w/ enlarged nuclei)

- CT head for newborns for calcifications, microcephaly, or enlarged ventricles

- Fetal blood sampling and US monitoring

congenital CMV (HHV5) (Tx)

Ganciclovir IV

OR

Valganciclovir PO

specialist referral

congenital HSV (incidence)

30-50% of newborn of mothers with primary genital herpes develop HSV disease, 3/10,000 babies

congenital HSV (pathophys)

Herpes simplex 1 and 2, maternal genital or oral

congenital HSV (S/S and PE)

- Clustered vesicles present only in 35% infected newborns

- encephalitis

- can disseminate and look like sepsis

- seizures

- sx not seen til end of 1st or 2nd week of life

congenital HSV (eval)

- PCR and serologies

- Tzank smear

congenital HSV (Tx)

- encephalitis: acyclovir IV

- valacyclovir

- famciclovir

length of tx depends on severity

congenital syphilis (incidence)

fluctuating since the early 2000s, but now on the rise again

congenital syphilis (pathophys)

Treponema pallidum (spirochete)

congenital syphilis (S/S and PE)

- Stillbirth and death

- Maculopapular palmar/plantar rash

Early from 0-2 y/o:

- hepatosplenomegaly

- bone abnormalities

- "snuffles" (rhinitis)

- severe anemia

Late findings:

- saddle nose

- high palate arch

- Hutchinson teeth

Typical TORCH syndrome of deafness, rash, HSM, meningitis and neuro issues, fever

congenital syphilis (eval)

Labs:

- darkfield microscopy

- VDRL/RPR

- CSF

Imaging:

long bone XR: osteochondritis

congenital syphilis (Tx)

- Penicillin G IV or IM x 10 days

- One dose if baby < 1 month

congenital HIV (incidence)

Steadily decreasing, now

congenital HIV (pathophys)

HIV 1 & 2, also by breastfeeding or poor maternal control

congenital HIV (S/S and PE)

- Asymptomatic at birth

- Eventual typical symptoms like FTT, recurrent infections

congenital HIV (eval)

- nucleic assay PCR and viral load

- antibody test not as reliable due to maternal antibodies in blood for >18mon to 2 y/o

congenital HIV (Tx)

- ART for 4-6 weeks after delivery, w/ testing frequently during the 1st year at least 1mon and 4mon

- new guidelines published, PCP prophylaxis

juvenile rheumatoid arthritis (JRA) (incidence)

Most common arthritis in children, 1/1000 children, 2:1 female to male

juvenile rheumatoid arthritis (JRA) (pathophys)

autoimmune, HLA type DR8, DR4, and DP3

what are the three types of juvenile rheumatoid arthritis (JRA)? what defines each?

Pauciarticular (oligo-):

juvenile rheumatoid arthritis (JRA) (S/S and PE)

if pain >6 weeks

- swelling

- intermittent fever w/ truncal and proximal rash

- morning stiffness

- fatigue

- limp

- uveitis in 10% especially w/ + ANA

- nodules jts or organs

juvenile rheumatoid arthritis (JRA) (eval)

(+) RF in polyarticular

(+) ANA oligo

- CBC mild anemia

- elevated ESR and CRP

- Lyme titer

- X-ray and US of joints considering age

- eye exams

juvenile rheumatoid arthritis (JRA) (PHARM Tx)

1st Line:

- NSAIDs

OR

- corticosteroids short term, steroid injections

2nd Line:

DMARDs:

- Methotrexate

- sulfasalazine

- hydroxychloroquine

Biologic disease modifying anti-rheumatic agents (bDMARD):

- TNF-alpha like adalimumab (Humira) and Etanercept (Enbrel)

- IL-I antagonists like anakinra

juvenile rheumatoid arthritis (JRA) (NON PHARM Tx)

- PT and OT

- Swimming, cycling, weight-based training

corticosteroid side effects

C = cataracts

U = ulcers

S = striae

H = HTN

I = infectious

N = necrosis of bone (avascular)

G = growth retardation

O = osteoporosis

I = increased ICP (pseudotumor cerebri)

D = DM

M = myopathy

A = adipose tissue hypertrophy (buffalo hump)

P = pancreatitis

congenital hydrocephalus (incidence)

1-3/1000 children, more males

congenital hydrocephalus (pathophysiology)

blockages of ventricular system:

- aqueductal stenosis tumor

- cyst

imbalance of CSF production

reduced reabsorption:

- meningitis, hemorrhages, blocking arachnoid villi

congenital hydrocephalus (S/S and PE)

- sunsetting eyes

- enlarged head

- lethargy/crying/vomiting

- thin scalp skin and prominent veins

- poor head/neck control

congenital hydrocephalus (eval and tx)

Eval:

- US and CT

- Regular head circumference measurements

Tx: Shunt

cerebral palsy (CP) (epi)

Incidence: 3/1000 children, about 500,000 children in US

cerebral palsy (patho)

Nonprogressive motor disorder from damage to the brain, symptoms correspond to where drain damage occurs

•Prenatal toxins, radiation, DM, nutritional deficiencies

•Prematurity

•Perinatal anoxia, trauma, infections

cerebral palsy (symptoms and PE)

delayed motor

language and social skills

vision/hearing impairments

seizures

intellectual disabilities

spastic or hypotonic symptoms

FTT

cerebral palsy (eval)

Brain MRI, abnornal in up 80%

cerebral palsy (tx)

Baclofen pump

botulism toxin

PT/OT/speech

antiparkinsonian agents medications

selective dorsal rhizotomy

GI and ortho surgeries

CP: POSTER

P = posturing/ abnormal extensor thrusting

O = oropharynx problems, swallow issues, grimace, tongue thrusts

S = strabismus

T = tone hyper- or hypo-

E = evolutional - persistence of primitive reflexes

R = reflexes - increased DTRs

4 out 6 = Diagnose CP

Trisomy 18 (Edwards Syndrome) (patho)

3 copies of Chromosome 18 due to nondisjunction

Trisomy 18 (Edwards Syndrome) (sx and PE)

most die before birth or during 1st year of life, small, abnormally shaped head

a small jaw and mouth

clenched fists with overlapping fingers

Trisomy 18 (Edwards Syndrome) (heart defects)

VSD, PDA, PFO

Trisomy 18 (Edwards Syndrome) (eval)

Genetic testing

Trisomy 18 (Edwards Syndrome) (tx)

palliative care, surgery

Trisomy 13 (patau syndrome) (pathophys)

3 copies of Chromosome 13 due to nondisjunction

Trisomy 13 (patau syndrome) (S/S and PE)

- most die before birth or during 1st year of life

- poor brain and spinal cord development

- microphthalmia

- cleft lip and palate

- hypotonia

- intellectual disability

- microcephaly

- polydactyly

Trisomy 13 (patau syndrome) (heart defects)

- VSD

- ASD

- PDA