CONGENITAL HEART DISEASE

Non-cyanotic
1. Atrial Septal Defect
- Definition: persistent opening of interatrial septum (RA connected to LA)
- Pathophysiology:
 Darah yang ada di left atrium akan shunt ke right atrium (greater pressure in LA 
lower pressue in RA), sehingga volume darah yang ada di sisi kanan jantung lebih
banyak daripada yang semestinya
 Berlebihnya volume darah di sisi jantung sebelah kanan membuat RA dan RV
hipertrofi
 Jika berkelanjutan, maka akan terjadi Eisenmenger’s dimana shunt akan berbalik
(yang awalnya Left to Right jadi Right to Left), menyebabkan deoxygenated blood
juga ikut terbawa ke left atrium lalu ke left ventricle dan dialirkan ke seluruh tubuh
 Hal ini menyebabkan cyanosis systemic
- Symptoms:
 Dyspnea, fatigue, lower respiratory tract infection, palpitation
- Physical Exam Findings:
 Prominent systolic impulse in lower left sternal border (RV heave)
 Widened S2, fixed splitting pattern
 Upper left sternal border systolic murmur (akibat increased flow di pulmonary valve)
 Lower left sternal border mild diastolic murmur ( akibat increased flow di tricuspid
valve)
 No murmur (no significant pressure gradient between two atria)
- Diagnostic Studies
 X-ray
i. Cardiomegaly (RV and RA)
ii. Prominent pulmonary artery (increased pulmonary vascular marking)
 ECG
i. RVH (RA enlargement/incomplete or comple RBB)
ii. LAD
 Echocardiagram
i. RA and RV enlargement
 Catheterization
i. Pulmonary vascular resistance
ii. Concurrent CAD
 Treatment : surgery  closure with pericardial/synthetic patch
2. Ventricular Septal Defect
- Definition: abnormal opening in interventricular septum (70% membranous
septum/20% muscular septum)
- Pathophysiology:
 Left to Right shunt (karena pressure di Left Ventricle lebih besar daripada pressure di
Right Ventricle)
 Menyebabkan RA, RV, LA, dan pulmonary circulation overload (karena darah yang
seharusnya dialirkan ke seluruh tubuh malah kembali lagi ke paru-paru lewat right
ventricle)
 Karena itu, tubuh jadi kekurangan oksigen (darah yang seharusnya dipompa ke
seluruh tubuh oleh Left Ventricle malah ke Right Ventricle), maka dia berusaha
compensate dengan menambah stroke volume dari Left Ventricle
 Hal ini menyebabkan chamber dilation dan systolic dysfuction (jantung tidak dapat
memompa darah dengan benar)  symptoms of heart failure
- Symptoms
 Tachypnea, poor feeding, failure to thrive, lower respiratory tract infection, bacterial
endocarditis
- Physical Examination Findings:
 Left sternal border holosystolic murmur
 Systolic thrill di tempat murmur
 Apex mild diastolic rumble
- Diagnostic Studies
 X-ray: cardiomegaly and prominent pulmonary vascular marking
 ECG: Left Atrium and Left Ventricle Hypertrophy
 Catheterization: adanya perbedaan saturasi Oksigen di Right Atrium dan Right
Ventricle (Right Ventricle > Right Atrium)
- Surgery
 Closure of the opening using pericardial/synthetic patch

3. Patent Ductus Arteriosus

- Definition: persistent connection between the Pulmonary Artery and Aorta
- Pathophysiology:
 Decreasing pulmonary vascular resistance at birth
 Blood from aorta shifted to pulmonary artery
 Volume overload di Left Atrium and Left Ventricle
 Chamber dilatation
  Left sided Heart Failure
- Symptoms:
 Tachycardia, poor feeding, slow growth, lower respiratory tract infection, fatigue,
dyspnea, palpitations
 Atrial Fibrillation
- Physical Examination Findings:
 Left subclavian murmur (disebabkan oleh adanya gradient pressure between aorta
and pulmonary artery, both in systole and diastole)
 Clubbing fingers and cyanosis (Eissenmeinger syndrome)
- Diagnostic Studies
 X-ray: Cardiomegaly (Left Atrium and Left Ventricle enlargement) with prominent
vascular marking
 ECG: Left Atrium enlargement and Left Ventricle Hypertrophy
- Treatment
 Spontaneously close during first month of birth
 Prostaglandin synthesis inhibitor  constrict ductus arteriosus

4. Congenital Aortic Stenosis

- Definition: caused by abnormal structural development of the valve leaflets (harusnya
kebentuk 3 jadinya hanya 2  eccentric stenotic opening through which blood is
ejected
- Pathophysiology:
 Narrowed valvular orifice
 Increased Left Ventricle Systolic pressure (to circulate the body via the aortic valce)
 Left Ventricle Hypertrophy
 High velocity jet of blood passes through stenotic valve  dilation of the proximal
aortic wall
- Symptoms: tachypnea, tachycardia, failure to thrive, poor feeding, exertional dypsnea,
angina pectoris, syncope
- Physical Examination Findings
 Base of the heart with radiation to the neck Harsh Cresendo-Decresendo murmur
- Diagnostic Studies
 X-ray: enlarged Left Ventricle, dilated ascending aorta
 ECG: left ventricle hypertrophy
 Echocardiogram: abnormal structure of aortic valve + degree of Left Ventricle
Hypertrophy
 Doppler assessment and catheterization: pressure gradient across the valve
- Treatment:
 Catheter balloon valvuloplasty
  Catheter balloon dilation/surgical revision
5. Pulmonic Stenosis
- Definition: obstruction di Right Ventricle atau Pulmonary valve sehingga outflow dari
Right Ventricle terganggu
- Pathophysiology:
 Stenosis  impaired outflow
 Increased Right Ventricle pressure  chamber hypertrophy
 Heart Failure
- Symptoms:
 Dyspnea with exertion, exercise intolerance, decompensation, (abdominal fullness,
pedal edema  HF)
- Physical Examination Findigs:
 Prominent jugular venous a wave
 Right Ventricle Heave
 Loud and late peak left sternal bordwr crescendo-decressendo systolic ejection
murmur with palpable thrill
 Widened Splitting with soft P2 component S2
 Pulmonic ejection sound (high pitched “click”)
- Diagnostic Studies
 X-ray: enlarged Right Atrium and Right Ventricle, postenotic pulmonary artery
dilation
 ECG: Right Ventricle Hypertrophy and Right Axis Deviation
 Echocardiogram and Doppler assesment: Right Ventricle Hypertrophy and pressure
gradient
- Treatment:
 Mild  doesn’t need treatment
 Severe  transcatheter balloon valvuloplasty

6. Coarction of the Aorta

- Definition: discrete narrowing of the aortic lumen
- Pathophysiology:
 Aortic narrowing  increase afterload  disturbance in blood flow to systemic area
 Effects:
i. Left Ventricle Hypertrophy
ii. Dilatation of collateral Blood Vessel from the intercostal arteries that bypass
coarctation
- Symptoms: heart failure symptoms, differential cyanosis if PDA, pressure difference
between upper and lower extremities , claudication
- Physical Examination Findings:
  Weak and delayed femoral pulse
 Elevated Blood Pressure in upper body
 Chest midsystolic ejection murmur
 Continuous murmur (prominent torturous collateral arterial circulation)
- Diagnostic Studies:
 X-ray: Bilateral symmetrical rib notching, indented aorta
 ECG: Left Ventricle Hypertrophy
 Doppler/Echocardiogram: pressure gradient
 MRI: retrograde blood flow in relevant mediastinal/intercostal arteries adjacent to
the aorta  collateral flow
- Treatment:
 Severe  prostaglandin infusion
 Surgery  end-to-end reanastomosis (excision of narrowed aortic segment),
synthetic patch material
 Transcatheter interventions  balloon dilatation
Cyanotic
1. Tetralogy of Fallot
- Definition: abnormal anterior and cephalad displacement of the infundibular (outflow
tract) portion of the interventricular septum
- Pathophysiology
i. Ventricular Septal Defect  anterior malalignment of the interventricular
septum
ii. Subvalvular pulmonic stenosis  obstruction from the displaced inferior septum
iii. Overriding aorta  aorta receives blood from both ventricles
iv. Right Ventricle Hypertrophy  large pressure buat compensate pulmonary
stenosis
- Symptoms
 Dyspnea and exertion, cyanosis when crying, syncope, convulsions
- Physical Examination Findings:
 Mild cyanosis (lips, mucous, fingers)
 Chronic hypoxemia  clubbing finger and toes
 Right Ventricle Hypertrophy  left sternal border heave
 Upper left sternal border systolic ejection murmur
- Diagnostic Studies
 X-ray
i. Prominence of Right Ventricle
ii. Boot-shaped heart (decreasing size of pulmonary artery segment)
 ECG
i. Right Ventricle Hypertrophy and Right Axis Deviation
  Echocardiogram
i. Right Ventricle outflow to the aorta
ii. Malaligned Ventricular Septal Defect
iii. Right Ventricle Hypertrophy
- Treatment
 Bypass aorta  pulmonary artery (darah di aorta biar bisa ke pulmonary artery)
 Stent di pulmonary valve
 Closure of Ventricular Septal Defect
2. Transposition of the Great Arteries
- Definition: aorta  right ventricle, pulmonary artery  left ventricle
- Pathophysiology
Deoxygenated blood yang seharusnya dialirkan ke paru-paru malah dialirkan ke seluruh
tubuh, oxygenated blood yang seharusnya dialirkan ke seluruh tubuh malah masuk ke
paru-paru  cyanosis
- Symptoms:
 Blue baby (cyanosis)
 Accentuated S2
 Prominent murmur
- Diagnostic Studies:
 X-ray: narrowing base of the heart to more anterior-posterior towards the aorta and
pulmonary artery
 ECG: Right Ventricle Hypertrophy
 Echocardiogram: abnormal orientation of the great vessels
- Treatment:
 Prostaglandin  maintain ductus arteriosus
 Balloon catheter  make an opening between the atria (Rashkind procedure)
 Arterial Switch (Jatene’s procedure)
3. Eisenmeger Syndrome
- Definition: shifting of the original shunt to the opposite shunt (initially left to right to
right to left) because of elevated pulmonary vascular resistance over time  cyanosis
- Pathophysiology
 Left to right shunt
 Pulmonary arteriolar media hypertrophy, intima proliferates
 Thrombosed vessel  vascular resistance increase
 Right to left shunt  cyanosis
- Symptoms: hypoxemia, dyspnea and fatigue, reduced Hb saturation
- Physical Examination Findings
 Cyanotic with finger clubbing
 Prominent a wave in JVP
 Loud P2
 - Diagnostic studies
 X-ray: proximal pulmonary artery dilation with peripheral tapering and calcification
 ECG: right ventricle hypertrophy, right atrium enlargement
 Echocardiogram/Doppler: cardiac defect and quantitate pulmonary artery systolic
pressure
- Treatment
 Limitation of activity
 Pulmonary vasodilator theraphy
 Endothelin receptor antagonist (prostacyclin analog, phosphodiesterase inhibitor)

VALVULAR HEART DISEASE

1. Mitral Stenosis
- Causes
 Rheumatic Fever
i. Streptococcus group A
ii. Molecular mimicry
 Endocarditis
i. Bacteria
ii. Fungi
- Pathophysiology
 Obstruction of blood flow across the valve  emptying of Left Atrium is impended
 Abnormal pressure between Left Atrium and Left Ventricle (higher abnormal
pressure in Left Atrium  increased pulmonary venous and capillary pressure) 
Left ventricle’s stroke volume and cardiac output decrease
- Symptoms: dyspnea, JV distention, peripheral edema, blood coughing
- Physical Examination Findings
 Loud S1
 Opening snap followed by Low frequency decrescendo murmur
 Left sternal border decrescendo murmur
- Diagnostic Studies
 X-ray:
i. Left Atrium and Right Ventricle enlargement
ii. Interstitial edema
iii. Kerley B lines
iv. Prominence of the pulmonary artery
 ECG:
i. Left Atrium enlargement, Right ventricle hypertrophy, atrial fibrillation
 Echocardiogram:
 i. Thickened mitral leaflets, Left Atrium enlargement, intra-atrial thrombus
- Treatments
 Diuretics
 Beta blocker
 Digoxin  slowing rapid ventricular rate and improve diastolic filling
 Percutaneous balloon mitral valvuloplasty
 Open mitral commissurotomy

2. Mitral Regurgitation
- Causes
 Anything that causes Left Ventricle enlargement
 Spatial separation between the papillary muscle
 Mitral annulus is stretched to an increased diameter
- Pathophysiology
 Portion of Left Ventricle’s stroke volume is ejected backward to the Left Atrium (low
pressure) during systole
 Left Atrium volume increase  Left atrium pressure increase
 Reduction of Cardiac Output
 Volume-related stress on Left Ventricle
 Acute:
i. Regurgitation
ii. Left Atrium pressure increase
iii. Pulmonary venous pressure increase
iv. Pulmonary edema and congestion
 Chronic:
i. Normal pressure, but lower cardiac output
- Symptoms: fatigue, weakness, dyspnea, orthopnea, peripheral edema, increased
abdominal girth
- Physical Examination Findings:
 Apical holosystolic murmur that radiates to axilla
 Systolic murmur
- Diagnostic Studies
 X-ray:
i. Pulmonary edema
ii. Left Ventricle and Atrium enlargement
iii. Calcification of the mitral annulus
 ECG:
i. Left Atrium enlargement
ii. Left ventricle hypertrophy
  Echo: identify structural cause of mitral regurgitation and grade
 Echocardiagram: identify coronary ischemic cause
- Treatment
 IV diuretics  pulmonary edema reliever
 Vasodilator  reduce resistance to forward flow and augment forward CO
 Mitral Valve repair/replacement
3. Mitral Valve Prolapse/floppy mitral valve, myxomatous mitral valve, Barlow syndrome
- Cause: idiopathic
- Pathophysiology
 Posterior leaflet enlarge
 Normal dense collagen and elastin matrix of the valvular fibrous is fragmented and
replaced with myxomatous connective tissue
- Symtpoms: asymptomatic, chest pain, palpitation, sudden squatting
- Physical examination findings:
 Mildsystolic click
 Late systolic murmur
- Diagnostic studies
 Echocardiogram: posterior displacement of one/both mitral leaflet into left atrium
during systole
- Treatment: reassurance
4. Aortic Stenosis
- Causes: degenerative calcific changes of the valve, rheumatic valve disease, bicuspid
aortic valve
- Pathophysiology
 Valve orifice area is reduced
 Significant elevation of left ventricular pressure to drive blood into the aorta
- Symptoms: angina (unbalance oxygen supply and deman), syncope, dyspnea
- Physical Examination Findings
 Coarse late-peaking systolic ejection murmur
 Weakened and delayed upstroke of carotid artery
- Diagnostic Studies
 ECG: left ventricle hypertrophy
 Echocardiogram: assess left ventricle wall thickness
 Doppler and catheterization: severity of Aortic Stenosis
- Treatment: aortic valve replacement
5. Aortic Regurgitation
 Causes:
i. Aortic leaflet disease
ii. Aortic root dilatation
iii. Widening/aneurysm of aortic annulus
 iv. Endocarditis
v. Rheumatic Fever
- Pathophysiology
 Blood is driven back from the aorta to the left ventricle during diastole
 Acute  chamber pressure increase  pressure + volume increase congestion
 Chronic  left ventricle and left atrium hypertrophy
- Symptoms
 Fatigue
 Syncope
 Dyspnea
 Palpitation
- Physical Examination Findings
 Widened Pulse Pressure
 Left sternal border blowing murmur in early diastole
 Austin Flint murmur
- Diagnostic Studies
 X-ray: Left ventricle enlargement
 Echocardiogram: identify the cause and degree of Aortic regurgitation
 Catheterization: check Left ventricle function and coronary artery disease
- Treatments
 Vasodilator