Congenital heart disease (1)
Fateme Jorfi
Cardiologist, fellow of adult congenital heart disease
Congenital Heart Disease
• Abnormalities of the heart/ great vessels since birth
Most common congenital anomaly
• Incidence higher in premature infants
• Faulty embryogenesis during 3-8 weeks of IU life
Congenital Heart Disease: Etiologies
- 70-80% Multifactorial
- 6-12% Gross Chromosomal Anomaly (trisomy 21,18,13)
- 10-15% Single gene defect( DiGeorge syndrome, Holt-Oram syndrome)
- 1% Maternal Disease
- 1% Teratogen Exposure
- genetic or environmental
- rubella infection, drugs, heavy drinking during pregnancy, maternal DM
The Recurrence Risk with:
- 1 sib with CHD: 2-4%
- 2 sibs with CHD: 6-12%
- Mother with CHD:6-12%
- Father with CHD: 2-4%
In 1/2 of these families the same defect recurs
Classification
1. Malpositions of Heart and great vessles
(Dextrocardia, TGA), may be accompanied by situs
inversus
2. Shunts( ASD, VSD, PDA..)
3. Obstructions (Obstructive CHD)
A. Left to Right shunts (Acyanotic or Late Cyanotic group)
cyanosis months or years after birth
1. Ventricular septal defect (VSD)
2. Atrial septal defect (ASD)
3. Patent ductus arteriosus (PDA)
B. Right to Left shunts (Cyanotic group)
1. Tetralogy of Fallot (TOF)
2. Transposition of great arteries
3. Persistent truncus arteriosus
4. Tricuspid atresia and stenosis
Obstructions
1. Coarctation of Aorta
2. Aortic stenosis and atresia
3. Pulmonary stenosis and atresia
Left →Right shunt:
• ↑pulmonary blood flow → ↑pulm. Pressure (PAP) →RVH →potential
cardiac failure
• ↑pulm. blood flow → medial hypertrophy + intimal proliferation to
prevent pulmonary edema.
• prolonged ↑pulm. pressure → increased PAP more than even
systemic pressure→ reversing the flow from R →L: unoxygenated
blood in systemic circulation → late cyanosis or Eisenmenger syndrome
• Once significant pulmonary HT develops, surgical Rx of cardiac
defects not possible
Eisenmenger's syndrome
Eisenmenger's syndrome is defined as the process in which a long-
standing left-to-right cardiac shunt caused by a congenital heart defect
(typically by a ventricular septal defect, atrial septal defect, or less
commonly, patent ductus arteriosus) causes pulmonary hypertension and
eventual reversal of the shunt into a cyanotic right-to-left shunt.
Signs and symptoms of Eisenmenger
syndrome include the following:
Cyanosis (a blue tinge to the skin resulting from lack of oxygen)
High red blood cell count
Swollen or clubbed finger tips (clubbing)
Fainting (also known as syncope)
Heart failure
Abnormal heart rhythms
Bleeding disorders
Coughing up blood
Iron deficiency
Infections (endocarditis and pneumonia)
Kidney problems
Stroke
Gout (rarely) due to increased uric acid resorption and production with impaired excretion
Gallstones
Atrial Septal Defect
• Abnormal fixed opening in atrial septum caused by
incomplete tissue formation
• Not to confuse with patent foramen ovale present in 30%
of normal individuals
• Unnoticed in infancy and childhood
• Usually presents late in life (30), late cyanotic heart dis.
• L→R shunt at atrial level (pulm vascular resistance is
less than systemic and compliance of Rt ventricle is
greater than Lt)
• Pulm blood flow increased to 2-4 times, hypertrophy of
RA and RV
• Pulmonary HT, RHF unusual
Morphology:
4 types according to location
• Secundum ASD: deficient or fenestrated oval fossa
near centre of septum
• Primum ASD: occur adjacent to AV valves
• Sinus venosus: near entrance of SVC
Coronary sinus type ASD
Clinical feature:
A patient may be asymptomatic or have any of the following features:
Dyspnea on Exertion
CHF
Palpitations
Syncope
Right heart failure
A. fib
Stroke (via an embolism)
Pulmonary hypertension, marker of late disease and increased mortality
Eisenmenger syndrome
Physical examination:
On physical examination, a patient with an ASD may have a right ventricular
heave, systolic flow murmur in the pulmonary valve region due to increased
pulmonary flow, a fixed split second heart sound, or a diastolic flow rumble across
the tricuspid valve.
ECG findings:
Incomplete right bundle branch block (rsr in V1), very sensitive
1st degree AV block or ectopic atrial rhythme
Atrial flutter or atrial fibrillation in ~20% of adults with ASDs requiring surgery
Right axis deviation (pulmonary hypertension)
Left aaaxis deviation (ASD primum)
Echo findings:
RA and/or RV volume overload
Pulmonary artery dilation
High pulmonary artery pressures
Secundum
ASD Primum
ASD
Management:
Medical management of complications (Afib, pulmonary
HTN, etc.)
Avoid pregnancy and exertional activity in ASD
complicated by pulmonary hypertension
Indications for ASD closure: surgical, intervention
Right heart overload with RA or RV enlargement
Qp/Qs> 1.5
Ventricular septal defect (VSD)
A defect between the two ventricles, incomplete closure of ventricular
septum
• Left to right shunt
• Dilated left heart – increased blood to lungs – increase in pulmonary
pressure
• Morphology:
-membranous septum
- muscular septum
- below aortic or pulmonary valves (outlet septum)
Inlet septum (Avcanal type)
- Mostly single. Multiple VSDs in muscular septum: Swiss
cheese septum
Clinical feature:
Clinical features depend on size of lesion
•Small lesions recognized later or may spontaneously close, heart murmure
•Large VSDs recognized early in life, cause Lt-Rt shunts → LV volume overload→
pulmonary HT →hypertrophy of RV → since birth. Ultimately, shunt reversal,
cyanosis, death.
Physical exam findings:
A systolic thrill may be palpable along the left sternal border.
A loud holosystolic murmur (harsher quality than that of mitral regurgitation) may be
localized to the left lower sternal border.
In patients with small muscular defects, the murmur may end in mid systole because of
systolic contraction of the septal musculature.
A forceful left ventricular impulse or heave may be present.
A split and accentuated pulmonic component of the second heart
sound may be present.
A third heart sound (S3) (suggesting increased flow across the mitral
valve) may be present.
A rumbling mid-diastolic murmur at cardiac apex suggests increased
flow across the mitral valve.
A midsystolic ejection murmur may be present due to increased flow
across the pulmonary valve
ECG & CXR:
If the VSD is large, chest x-ray shows
cardiomegaly and increased pulmonary
vascular markings.
ECG shows right ventricular hypertrophy or
combined ventricular hypertrophy and,
occasionally, left atrial enlargement.
ECG and chest x-ray are typically normal if the
VSD is small.
Echocardiography:
MANAGEMENT:
Approximately 75 percent of small VSDs close on their own within the first year of
life or by age 10 and do not require any treatment other than careful monitoring. For
medium to large VSDs, the spontaneous closure rate is about 5 to 10 percent. If a
VSD has not closed by age 10, spontaneous closure probably will generally not
occur; it is rare for a VSD in an adult to close on its own.
An adult who has a VSD without any symptoms probably does not require
intervention but should have regular checkups by a physician who specializes in
adult congenital heart disease. Although the VSD may not be causing heart or lung
problems or symptoms, adults with unrepaired VSDs still have a higher than normal
risk for heart valve problems and endocarditis, a potentially life-threatening infection
of the heart.
Therapeutic option:
Surgical
Catheter based
Indication for closure:
Closure of a VSD is indicated when there is clinical evidence of left
ventricular volume overload or Qp/Qs (pulmonary-to-systemic blood
flow ratio) of 1.5 or more.
A history of infective endocarditis is another class I indication.
As recommended for ASD closure, if the pulmonary vascular
resistance is less than two-thirds of the systemic vascular resistance,
closure may be contemplated.
Device closure should only be considered if the VSD is remote from
the tricuspid valve and aorta. Patients with irreversible pulmonary
hypertension are contraindicated to undergo closure.
Patent Ductus Arteriosus:
•Ductus arteriosus is normal connection between aorta and bifurcation of
pulmonary A
•Normally closes at 1st or 2nd day of life, > 3months persistence is abnormal
•Most often does not produce functional difficulties at birth
•A narrow ductus: no effect on growth and development during childhood
•Harsh machinery like murmur
Left to right shunt
Differential cyanosis:
Management:
• Watchful waiting. In a premature baby, a PDA often closes on its
own ...
• Medications. In a premature baby, nonsteroidal anti-
inflammatory drugs (NSAIDs) — such as ibuprofen or
indomethacin — might be used to help close a PDA.
• Surgical closure
• Catheter based procedures
Other left to right shunts:
Aortic sinus of Valsalva aneurysm and fistua: is an abnormal
dilatation of the aortic root located between the aortic valve
annulus and the sinotubular junction. This occurs as a
consequence of the weakness of the elastic lamina at the
junction of the aortic media and the annulus fibrosis
Coronary AVF
Anomalous left coronary artery from the pulmonary artery
(ALCAPA) is a congenital (present at birth) heart defect in which
the left coronary artery arises abnormally from the pulmonary
artery.
