Congenital Issue Presentations — USMLE Step 2 CK Notes

Coarctation of aorta

Preductal presents few days after birth as when first born

—> blood can bypass narrowing via PDA (closes in first wk of life)

—> PDA closes —-> massive increase in afterload on LV

——-> HF: Pale mottled extremities; hepatomegaly; hypotension and tachycardia

Prolonged capillary refill; cardiomegaly w pulm oedema; acidosis

Asymmetry in arm BPs; bounding pulses

Persistant pulm HTN of the newborn

Meconium aspiration —> pulm vasoconstriction

Supplemental O2 dilates lung capillaries and decreases pulm vascular R

Grunting; retractions; hypotension

Tetralogy of Fallot

Hx of becoming cyanotic when crying

Early cyanosis (not at birth)

VSD + RA Hypertrophy + overriding aorta; pulmonary stenosis

Associated murmur: HARSH systolic ejection murmur at L Sternal Border + single S2 ## (inaudible P2)

Transposition of Great Arteries

Cyanosis at birthing

No MURMUR

O2 does not improve

Most common in diabetic mothers

Tx: PGE1 to keep PDA patent

TRICUSPID atresia

Cyanosis at birth with holosystolic murmur

Depends on VSD/ASD to survive

ECG shows LV Hypertrophy

Give PGE1 until surgery

Truncus Arteriosus

Eisenmenger develops early

—> CXR shows increased pulm blood flow and bi ventricular hypertrophy

Surgery needed in first few wks of life

Associated with DiGeorge Syndrome

VSD (sound d/t L->R shint)

NUMBER 1 Cong heart lesion (membranous)

Growth failure, diaphoresis (esp when feeding), easy fatiguability and congestive HF

Harsh holosystolic murmur over L Lower Sternal border (4th ICS); loud P2 Decreases w Valsalva Initially not heard d/t high pulm vascular resistance -> decreases shunt

—-> can eventually result in R to L shunt

Most close within 1-2yrs Left side and Right side affected cf ASD

ASD

Loud S1 with fixed split S2 and parasternal heave

Older child with exercise intolerance

Soft mid-diastolic murmur at L Lower Sternal Border

Mid systolic murmur d/t pulmonic flow murmur

Often asym until adulthood -> pregnancy can precipitate d/t increased blood flow

No Left HF

Ostium secundum defect (most common)

Ostium primum ASD is often associated with other cardiac defects

RF is in uterine alcohol or smoke exposure

PDA

To-fro (machine) murmur in second L ICS; widened pulse pressure and bounding periph pulse

If not closed by wk 1 give Indomethacin/surgically close

Epstein Anomaly

Risk factor: mother on Lithium

Holosystolic Murmur: Tricuspid Insufficiency 2/2 TV displacement into RV

Associated arrhythmia: WPW

Endocardial cushion defect

Most common defect in Downs

Fixed and split S2; Systolic ejection murmur with diastolic rumble

At risk for early Eisenmengers —->> surgery before pulm HTN

TORCH Infections Hepatomegaly common to many

Syphilis

Maculopapular Rash (blueberry muffin)—>> palms and soles ——>desquamates/becomes bullous

Snuffles -> copious clear rhinorrhea

Abnorm long bone radiograph (metaphysical lucencies)

Toxoplasmosis

Hydrocephalus (large head cf CMV)

Diffuse intracranial calcifications

Rash

Rubella

Cataracts, deafness and heart defects (esp PDA and VSD); rash

CONGENITAL CMV

Periventricular INTRACRANIAL calcifications and microcephaly

Sensineural hearing loss

Congenital Varicella Syndrome

Limb hypoplasia, club foot, cutaneous scars, cataracts, chorioretinitis, cortical atrophy