< CONGENITAL HEART DISEASE >

CHD  Most common form of birth defects  leading cause of death from birth abnormalities in the first year of life
Formation of the CVS begins during the third week of embryonic development.

Atrial Septal Defect Hole in the atrial septum

( ASD ) 2nd MC cause of CHD
Persistent opening in the interatrial septum after birth  direct communication between left and right atria
Etiology :
 Ostium secundum  region of the foramen ovale (MC  80%)  can occur anywhere  arises from inadequate
formation of the septum secundum, excessive resorption of the septum primum or a combination
 Ostium primum defect  associated with mitral regurgitation  results from the failure of the septum primum to fuse
with the endocardial cushions.
 Sinus venosus defect  closely related to ASDs but morphologically distinct  represents an “unroofing” defect with
absence of normal tissue between RPVs and RA but technically not a deficiency of the anatomic atrial septum. Usually
large and result in flow from the RPV and LA into RA  similar to ASDs
 Patent foramen ovale (PFO)  not a true ASD but (+) persistence of normal fetal anatomy. Clinically silent bcs of the
one-way valve. Takes on significance if RA pressure  (eg. pulmonary htn or right heart failure)
Pathophysiology : Shunt = left to right ( non-cyanotic )
S/Sx :
 Most pts asymptomatic or minimal in childhood until > 30 years
 Infants/young children will have failure to thrive , resp infections, exertional dyspnea
 Adults : exertional dyspnea, easy fatigability, palpation, syncope
 PE : systolic ejection crescendo-decrescendo flor murmur @ pulmonic area. Widely split fixed S2 does not vary
with respiration
 Prominent systolic impulse (+) along the lower-left sternal border  (+) contraction of the dilated RV  RV heave
 Mid diastolic murmur may also present on the lower-left sternal border
Dx :
 CXR : cardiomegaly  RV and RA dilated, pulmonary vascular markings 
 ECG : incomplete RBBB, RVH + RA. LAD is common  ostium primum type
 Crochetage sign  notching in the peach of the R wave in inferior lead
 ECHO is the GOLD STANDARD  cardiac catheterization is rarely necessary
Tx :
 Spontaneous closure likely in the 1st year  observe if small
 Surgical correction if symptomatic  usually around 2-4 years
Coarctation of Aorta Congenital narrowing of the descending thoracic aorta
M:F=2:1
70% also have a bicuspid aortic valve
Often occurs in pts with Turner Syndrome (45 XO)
Pathophysiology : non-cyanotic
Inc LV afterload with SNS activity and RAAS activation  HTN, LVH, CHF
S/Sx :
 Secondary HTN
 Bilateral claudication, dyspnea on exertion, syncope
 Infants : failure to thrive
 Infants = preductal // adults = postductal  based on the location of the aortic narrowing in relation to ductus arteriosus
 but abandoned bcs majority cases actually juxtaductal (next to the ductus)
 PE : Systolic murmur that radiates to the back/scapula/chest. BP higher in upper >> lower extremities
 Delayed / weak femoral pulses,  flow distal to obstruction in lower extremities
Dx :
 Rib notching  increased collateral circulation via intercostal arteries
 Indented aorta may also be visualized
 3 sign  narrowed aorta looks like the notch of the number 3
 ECG = LVH
 ANGIOGRAPHY  GOLD STANDARD
Tx :
 Surgical correction  elective, to prevent systemic hypertension
 Balloon angioplasty
 Prostaglandin E1  preoperatively
Patent Ductus Arteriosus Communication between descending thoracic aorta and pulmonary artery
( PDA ) Ductus arteriosus  vessel that connects the left pulmonary artery to the descending aorta during fetal life.
Happens when the ductus fails to close after birth  persistent connection between the great vessels.
Pathophysiology :
 Left to right = non-cyanotic
 Prematurity, perinatal distress, hypoxia delays closure, rubella infection in 1st trimester
 Continued prostaglandin E2 production promotes patency
S/Sx :
 Mostly asymptomatic
 Poor feeding, weight loss, frequent lower resp tract infections, pulmonary congestion
 Eisenmenger’s syndrome  pulmonary Htn  left to right shunt switches and become right to left shunt
(cyanotic)
 Continuous machinery murmur loudest and pulmonic area  left subclavicular region
 Wide pulse pressure  bounding pressure pulses
 Moderate sized defects  fatigue, dyspnea, and palpitations
 Atrial fibrillation  left atrial dilatation
 Can lead to endovascular infection, termed endarteritis
Dx :
1
  CXR : normal or cardiomegaly
 ECG : LVH, LAE
 ECHO  GOLD STANDARD  cardiac cath unnecessary for diagnostic purposes
Tx :
 Generally be therapeutically occluded
 Indomethacin  1st line to close PDA
 Surgical correction if fails  best before 1-3 years
Tetralogy of Fallot Most common cyanotic congenital heart disease
Results from a single developmental defect  abnormal anterior and cephalad displacement of the infundibular portion of the
interventricular septum  4 anomalies arises :
 VSD caused by anterior malalignment of the interventricular septum
 Sub-valvular pulmonic stenosis  obstruction from the displaced infundibular septum  often with valvular pulmonic
stenosis
 Over-riding aorta  receives blood from both ventricles
 RVH  high-pressure load placed on the RV by the pulmonic stenosis
Pathophysiology :
 Right to left  cyanotic
 RV outflow obstruction
 RV hypertrophy
 VSD
 Over-riding aorta
Increased resistance by the sub-valvular pulmonic stenosis  deoxygenated blood returning from systemic veins to be
diverted from the RV, through VSD, to the LV and into systemic circulation  systemic hypoxemia & cyanosis.
S/Sx :
 Blue baby syndrome  cyanosis
 TET SPELL : Paroxysms of cyanosis  older children relieve spells by squatting
Includes irritability, cyanosis, hyperventilation, syncope (rare), convulsions (rare)
 Eisenmenger’s syndrome  seen with PDA, VSD, TOF
 HARSH holosystolic murmur @ left upper sternal border  systolic ejection murmur
 RV heave  palpable along the left sternal border
 Digital clubbing
 Often dyspnea on exertion
Dx :
 CXR : BOOT-SHAPED HEART
 ECG : RVH + RAD
 ECHO  GOLD STANDARD
Tx :
 Surgical repair performed in the first 4-12 months of life
 PGE infusion to prevent ductal closure if pts in cyanotic prior to surgery
Ventricular Septal Defect Hole in the ventricular septum
( VSD ) Abnormal opening in the interventricular septum
Relatively common.
MC cause of CHD
Types :
 Perimembranous  MC hole near tricuspid valve  70% of cases
 Muscular  multiple holes  swiss cheese
 Inlet (posterior)
 Supracristal (outlet)
Pathophysiology : left to right shunt  non cyanotic
Hemodynamic changes that accompany VSDs depend on the size and relative resistances of the pulmonary and systemic
vasculatures.
Frank-Sterling mechanism (?)
Can lead to Eisenmenger’s syndrome
S/Sx :
 Small ( restrictive ) : asymptomatic or mild  found incidentally d/t murmur. 80% will close spontaneously. Called
restrictive  normal pressure is maintained  defect is small.
 Moderate : excessive swearing or fatigue especially during feeds
 Large : non-restrictive  CHF  includes tachypnea, poor feeding, failure to thrive, and frequent lower resp tract
infections
 VSDs complicated by pulmonary vascular disease and reversed shunts  dyspnea + cyanosis, also bacterial
endocarditis regardless of the size of the VSD
 PE : Loud high-pitched harsh holosystolic murmur @ lower left sternal border  smaller defects tend to have
loudest murmurs  bcs of the great turbulence of flow
 Systolic thrill (+) over the region of murmur ; diastolic rumble over the apex
 RV heave, loud S2, cyanosis  happens on pts with  holosystolic murmur
Dx :
 CXR : may be normal, may show LAE, RVH
 Echo : determines size and location. Preferred over CAT
 ECG : LVH + mild to moderate VSD +/- RVH/LVH, LAE
 MRI : only used of echo non-diagnostic.
 Cardiac catheterization  only if other test are non-diagnostic
Tx :
 Restrictive VSD ( left > right side pressure )  good prognosis
 Most small VSDs close by themselves within 10 years  50% by age 2
 Surgery
Truncus Arteriosus 1 vessels instead of 2 normal vessels (aorta and pulmonary artery)
Transposition of the Great 2 vessels switched  aorta and pulmonary artery
2
 Arteries
Tricuspid Atresia
Total Anomalous
Pulmonary Venous Return
( TAPVR )
Accounts for approx. 7% of cases of congenital heart defects.
MC cause of cyanosis in the neonatal period.
Precise cause  unknown
Lethal condition
Pathophysiology :
 TGA separates pulmonary and systemic circulations  placing 2 circuits in parallel rather than in series
 forces desaturated blood from systemic venous system to pass through the RV and return to systemic circulation w/o
undergoing normal oxygenation
 oxygenated pulmonary venous return passes through the LV and then back through the pulmonary artery to the lungs
without imparting oxygen to the systemic circulation
---------- resulting in extremely hypoxic, cyanotic neonate.
S/Sx :
 Appear blue  intensity depends on the degree of intermixing between parallel circuits
 generalized cyanosis on the 1st day of life and progresses rapidly
 RV impulse at the lower sternal border  RV faces systemic pressures
 Accentuated S2  reflects closure of the anteriorly placed aortic valve
 Prominent murmur  uncommon
Dx :
 CXR : usually normal
 ECG : RVH
 ECHO  DEFINITIVE DIAGNOSIS  demonstrates abnormal orientation of the great vessels
Tx :
 MEDICAL EMERGENCY
 Maintenance of ductus arteriosus  prostaglandin infusion
 Balloon catheter  Rashkind Procedure  creating interatrial communication
 Current corrective procedure : Jatene Procedure  “arterial switch” operation
Absence of the tricuspid valve  hypoplastic RV
5 vessels involved  all 4 pulmonary veins connect to 1 vessel (SVC) instead of LA

Eisenmenger’s Syndrome
 Eisenmenger’s  condition of severe pulmonary vascular obstruction  chronic left-to-right shunting through a congenital cardiac defect.
 Elevated pulmonary vascular resistance  reversal of the original shunt & systemic cyanosis
 Mechanism  unknown
 Symptoms :
o Hypoxemia  exertional dyspnea, fatigue
o Reduced Hb saturation  erythrocytosis  leads to hyper-viscosity  fatigue, headache, stroke
 P/E :
o Appears cyanotic with digital clubbing
o Prominent a wave in the JVP  elevated right-sided pressure during atrial contraction
o Loud P2 is common
o Murmur usually absent
o CXR  notable from proximal pulmonary artery dilatation with peripheral tapering
o Calcification of pulmonary vasculature maybe seen.
o ECG : RVH + RAH
o ECHO : identify underlying cardiac defect
 Treatment :
o Avoidance of activities that can exacerbate  includes strenuous activity, high altitude, use of peripheral vasodilator drugs
o Pregnancy is especially dangerous
o Prompt treatment for infections
o Management of rhythm disturbances
o Phlebotomy  patients with erythrocytosis
o No remedies can reverse the process in Eisenmenger’s syndrome