Adult Congenital Heart Disease & Cyanosis

1. Congestive heart failure: patients with medium and large defects may present with symptoms of congestive heart failure (dyspnea, tachypnea, sweating and failure to gain weight) or with symptoms related to bronchial obstruction and/or respiratory infection.
2. Pulmonary vascular obstructive disease
   • May develop in 10% of VSDs.
   • This is probably related to the exposure of the pulmonary vascular bed to high pressure and high flow.
3. Development of infundibular stenosis "Gasul's transformation of the VSD"
   • May occur in 8% of the defects.
   • It is more with right aortic arch and increased angle of the right ventricular outflow tract.
   • While development of infundibular stenosis eventually requires the patient to have surgery, it indeed protects the pulmonary vascular bed and prevents development of pulmonary vascular obstruction disease.
4. Aortic insufficiency
   • Develops in approximately 5% of patients.
   • This may either be related to prolapse of an aortic valve cusp into the VSD or lack of support to the aortic root.
   • More with supracristal VSDs.
   • Surgical correction is indicated if moderate to severe aortic insufficiency is present.
5. Eisenmenger's complex: flow reversal across a VSD when pulmonary vascular resistance exceeds systemic levels.
6. Infective endocarditis: congenital anomalies, esp. VSD, PDA and coarctation.
   • Narrow orifice: more common in small than in big VSD.

1. The mortality rate in untreated patients reaches 50% by age 6 years.
2. Syncope.
   • Hypoxic syncope: Fallot's tetralogy and other cyanotic diseases.
3. Right-sided heart failure: elevated jugular venous pressure [JVP] with large A wave, ascites, peripheral edema, hepatomegaly.
4. Pulmonary valve insufficiency "PR": low-pitched, short diastolic murmur.
5. A mild anemia may be present; polycythemia is rare in the absence of cyanosis.
6. Coagulation profile may be abnormal in patients with cyanosis and bleeding.
7. Endocarditis or sepsis: obtain blood cultures in febrile patients to rule out endocarditis or sepsis.
8. Cyanotic spells (adults with acute cyanosis).
9. Hyperviscosity in a nondehydrated state, most commonly when hematocrit levels > 65-70; if symptoms occur with hematocrits < 65, evidence of iron deficiency should be sought.
10. Cerebral arterial thrombosis: prophylactic phlebotomy has no place in the prevention of cerebral arterial thrombosis.

1. Congestive heart failure: moderate to large PDA may either present with symptoms of easy fatigability, symptoms associated congestive heart failure.
2. Bacterial endocarditis: isolated PDA is an indication for trans-catheter device closure by cardiologists, mainly to prevent bacterial endocarditis.
   • Infective endocarditis, underlying cardiac lesion: congenital anomalies, esp. VSD, PDA and coarctation.
3. Hyperdynamic pulmonary hypertension: it is due to increased pulmonary arterial blood flow; it occurs in congenital heart disease with left to right shunt e.g. ASD, VSD & PDA.
4. Eisenmenger's physiology: a right-to-left shunt occurs in response to an elevation in pulmonary vascular resistance.
5. Differential clubbing: occasionally, clubbing may occur in lower limbs, sparing the upper limbs; it may occur in a patient with patent ductus arteriosus associated with pulmonary artery hypertension and right to left shunt.

Clinical presentation depends upon the size of the ductus.

• If the PDA is small, there are no symptoms, and it is usually detected because of a murmur detected on a routine examination.
• Moderate to large PDA may either present with symptoms of easy fatigability, symptoms associated congestive heart failure.

• Left ventricular impulse is normal in small PDA and may be hyperdynamic with large shunts.
• A thrill may be felt at the left upper sternal border and in the suprasternal notch.
• S1 is usually normal and S2 may be buried within the murmur.
• In most cases, a continuous murmur is heard best at the left upper sternal border. The murmur begins in systole and continues through S2 into the diastole. The systolic component of the murmur crescendos up to S2 while the diastolic part decrescendo to a varying distance (time) into the diastole → machinery murmur.
• In big PDA, a mid-diastolic murmur may be heard at the apex because of increased flow across the mitral valve; such a mid-diastolic murmur suggests a Qp:Qs greater than 2:1 (Pulmonary to systemic flow = Qp:Qs).
• Arterial pulses are bounding in all but patients with very small ductus.

1. Congestive heart failure: moderate to large PDA may either present with symptoms of easy fatigability, symptoms associated congestive heart failure.
2. Bacterial endocarditis: isolated PDA is an indication for trans-catheter device closure by cardiologists, mainly to prevent bacterial endocarditis.
   • Infective endocarditis, underlying cardiac lesion: congenital anomalies, esp. VSD, PDA and coarctation.
3. Hyperdynamic pulmonary hypertension: it is due to increased pulmonary arterial blood flow; it occurs in congenital heart disease with left to right shunt e.g. ASD, VSD & PDA.
4. Eisenmenger's physiology: a right-to-left shunt occurs in response to an elevation in pulmonary vascular resistance.
5. Differential clubbing: occasionally, clubbing may occur in lower limbs, sparing the upper limbs; it may occur in a patient with patent ductus arteriosus associated with pulmonary artery hypertension and right to left shunt.

• Isolated PDA is an indication for trans-catheter device closure by cardiologists, mainly to prevent bacterial endocarditis.
• If the patient is asymptomatic, waiting until 6-12 months of age.
• For large-sized PDA, surgical closure is available option.
• If so small PDA, but no continuous murmur on auscultation → called "silent ductus" may no need for intervention.

Clinical presentation depends upon the size of the ductus.

• If the PDA is small, there are no symptoms, and it is usually detected because of a murmur detected on a routine examination.
• Moderate to large PDA may either present with symptoms of easy fatigability, symptoms associated congestive heart failure.

• Left ventricular impulse is normal in small PDA and may be hyperdynamic with large shunts.
• A thrill may be felt at the left upper sternal border and in the suprasternal notch.
• S1 is usually normal and S2 may be buried within the murmur.
• In most cases, a continuous murmur is heard best at the left upper sternal border. The murmur begins in systole and continues through S2 into the diastole. The systolic component of the murmur crescendos up to S2 while the diastolic part decrescendo to a varying distance (time) into the diastole → machinery murmur.
• In big PDA, a mid-diastolic murmur may be heard at the apex because of increased flow across the mitral valve; such a mid-diastolic murmur suggests a Qp:Qs greater than 2:1 (Pulmonary to systemic flow = Qp:Qs).
• Arterial pulses are bounding in all but patients with very small ductus.

• Isolated PDA is an indication for trans-catheter device closure by cardiologists, mainly to prevent bacterial endocarditis.
• If the patient is asymptomatic, waiting until 6-12 months of age.
• For large-sized PDA, surgical closure is available option.
• If so small PDA, but no continuous murmur on auscultation → called "silent ductus" may no need for intervention.

TOF is one of the most common CHDs, comprises:

1. Right ventricular (RV) outflow tract obstruction (RVOTO) (infundibular stenosis).
2. Ventricular septal defect (VSD).
3. Aorta dextroposition (overriding aorta).
4. And RV hypertrophy.

Cyanotic CHD with reduced pulmonary blood flow.

Signs and symptoms are directly related to the severity of the anatomic defects and may include the following:

1. Lack of exercise endurance.
2. Syncope.
3. Palpitations.
4. Exertional dyspnea, usually worsening with age.

• Evidence of right-sided heart failure (elevated jugular venous pressure [JVP] with large A wave, ascites, peripheral edema, hepatomegaly).
• In individuals with pulmonary valve insufficiency "PR": low-pitched, short diastolic murmur.

1. The mortality rate in untreated patients reaches 50% by age 6 years.
2. Syncope.
   • Hypoxic syncope: Fallot's tetralogy and other cyanotic diseases.
3. Right-sided heart failure: elevated jugular venous pressure [JVP] with large A wave, ascites, peripheral edema, hepatomegaly.
4. Pulmonary valve insufficiency "PR": low-pitched, short diastolic murmur.
5. A mild anemia may be present; polycythemia is rare in the absence of cyanosis.
6. Coagulation profile may be abnormal in patients with cyanosis and bleeding.
7. Endocarditis or sepsis: obtain blood cultures in febrile patients to rule out endocarditis or sepsis.
8. Cyanotic spells (adults with acute cyanosis).
9. Hyperviscosity in a nondehydrated state, most commonly when hematocrit levels > 65-70; if symptoms occur with hematocrits < 65, evidence of iron deficiency should be sought.
10. Cerebral arterial thrombosis: prophylactic phlebotomy has no place in the prevention of cerebral arterial thrombosis.

Signs and symptoms are directly related to the severity of the anatomic defects and may include the following:

1. Lack of exercise endurance.
2. Syncope.
3. Palpitations.
4. Exertional dyspnea, usually worsening with age.

• Evidence of right-sided heart failure (elevated jugular venous pressure [JVP] with large A wave, ascites, peripheral edema, hepatomegaly).
• In individuals with pulmonary valve insufficiency "PR": low-pitched, short diastolic murmur.

In adult patients, laboratory studies may be helpful:

1. The mortality rate in untreated patients reaches 50% by age 6 years.
2. Syncope.
   • Hypoxic syncope: Fallot's tetralogy and other cyanotic diseases.
3. Right-sided heart failure: elevated jugular venous pressure [JVP] with large A wave, ascites, peripheral edema, hepatomegaly.
4. Pulmonary valve insufficiency "PR": low-pitched, short diastolic murmur.
5. A mild anemia may be present; polycythemia is rare in the absence of cyanosis.
6. Coagulation profile may be abnormal in patients with cyanosis and bleeding.
7. Endocarditis or sepsis: obtain blood cultures in febrile patients to rule out endocarditis or sepsis.
8. Cyanotic spells (adults with acute cyanosis).
9. Hyperviscosity in a nondehydrated state, most commonly when hematocrit levels > 65-70; if symptoms occur with hematocrits < 65, evidence of iron deficiency should be sought.
10. Cerebral arterial thrombosis: prophylactic phlebotomy has no place in the prevention of cerebral arterial thrombosis.

In adolescents and adults, the diagnosis should always be sought in the event of unexplained hypertension of the upper extremities.

• Presenting symptoms may include headaches, chest pain, fatigue, or even life-threatening intracranial hemorrhage.
• True claudication is rare.
• Many patients are asymptomatic except for the incidentally noted hypertension.
• Frequently, COA is not recognized by the primary care physician.

• Palpation of femoral pulses (to detect radio-femoral delay), and measurement of blood pressure during routine examination is necessary to avoid a delay in the diagnosis.
• A pressure difference of more than 20 mm Hg in favor of the arms may be considered evidence of coarctation of the aorta.

• A murmur in the left infraclavicular area and under the left scapula may be systolic, but the murmur may also sound continuous in the presence of multiple collateral vessels or, occasionally, severe coarctation.
• An ejection click may be audible when an associated bicuspid aortic valve and a murmur of aortic stenosis or insufficiency are present.
• Similarly, a murmur of mitral stenosis or LV outflow tract obstruction may also occur.
• A gallop rhythm may occur in the presence of a hypertrophic noncompliant LV.

• Abnormalities of blood vessels in the retina and a prominent suprasternal notch pulsation.
• A thrill may be present in the suprasternal notch or on the precordium in the presence of significant aortic valve stenosis.
• In the rare case of abdominal coarctation, an abdominal bruit may be noted.

1. Complications of COA include: secondary LVH, systemic HTN, HF, aortic dissection, premature CAD, and cerebrovascular complications.
2. Some patients with COA may have cerebral aneurysms, predisposing them to cerebrovascular accidents with severe hypertension later in life.
3. With untreated coarctation a mean survival of 35 years with a 75% mortality by age 50 years can be expected.

For adults with acute cyanosis:

• Place them in a knee-chest position.
• In addition, provide/administer Oxygen, IV morphine and IV propranolol for severe cases.

• Most symptomatic adults with TOF require some type of surgical intervention.
• Pulmonary valve replacement is the most common procedure performed.

• If symptoms occur with hematocrits < 65, evidence of iron deficiency should be sought.
• When indicated, removal of 500 mL of blood over 30-45 minutes followed by quantitative volume replacement with normal saline or dextran can be performed.
• The procedure may be repeated every 24 hours until improvement occurs.
• An attempt should be made to achieve symptom control with the smallest quantity of blood removal to avoid iron deficiency.
• Prophylactic phlebotomy has no place in the prevention of cerebral arterial thrombosis.

• Isolated PDA is an indication for trans-catheter device closure by cardiologists, mainly to prevent bacterial endocarditis.
• If the patient is asymptomatic, waiting until 6-12 months of age.
• For large-sized PDA, surgical closure is available option.
• If so small PDA, but no continuous murmur on auscultation → called "silent ductus" may no need for intervention.

Strategies depend, to a large degree, on the size of the VSD.

• When surgery is indicated, open heart surgical technique is the treatment of choice.
• Transcatheter device occlusion of VSD is amenable now for some types as muscular and peri-membranous types with sufficient septum in the subaortic region so that the device can be implanted without interfering with aortic valve function.
• Aortic insufficiency: surgical correction is indicated if moderate to severe aortic insufficiency is present.

The simplest way is to classify them as Cyanotic and Acyanotic CHDs.

• Cyanotic CHD: our scope in Cyanotic CHD is on Ebstein anomaly and Fallot Tetralogy only, both with reduced pulmonary blood flow.
  • Ebstein's Anomaly.
  • Tetralogy of Fallot "TOF".
• Acyanotic CHDs: further classified to Left to right shunting and obstructive lesions.
  • Acyanotic heart defects: Left-to-right shunts
    • Atrial Septal Defect (ASD).
    • Ventricular Septal Defect (VSD).
    • Patent Ductus Arteriosus "PDA".
  • Acyanotic Obstructive lesions
    • Pulmonary Stenosis (RVOTO).
    • Aortic Stenosis "AS" (LVOTO).
    • Aortic Coarctation "COA".

• S2 is widely split and fixed (splitting does not vary with respiration) and is the most characteristic sign of ASD.
• A soft ejection systolic murmur of grade I-II/VI intensity (due to increased flow across the pulmonary valve and is heard best at the left upper sternal border).
• A grade I-II/VI mid-diastolic flow rumble is heard (with the bell of the stethoscope) best at the left lower sternal border. This is due to large volume flow across the tricuspid valve.
• There is no audible murmur because of flow across the ASD.

1. In very small defects, murmur, though begins with first heart sound, may not last through the entire systole; the shorter the murmur, the smaller is the defect.
2. In small defects the only abnormality is a loud Ejection systolic murmur heard best at the left lower sternal border.
3. In medium and large defects:
   • S2 is split unless elevated PAP "pulmonary artery pressure", in which case a loud single S2.
   • A holosystolic murmur is best heard at the left lower sternal border and does not usually radiate although it may be heard widely over the precordium.
   • The intensity of the murmur may vary between grades II-V/VI.
   • There is no significant variation of this murmur with respiration.
4. A grade I-II/VI mid-diastolic flow rumble may be heard at the apex in patients with medium to large-sized VSD and large left-to-right shunts; this murmur is heard best with the bell of the stethoscope. The mid diastolic murmur is due to increased flow across the mitral valve and usually indicates a Qp: Qs greater than 2:1.

• S1 is usually normal and S2 may be buried within the murmur.
• In most cases, a continuous murmur is heard best at the left upper sternal border. The murmur begins in systole and continues through S2 into the diastole. The systolic component of the murmur crescendos up to S2 while the diastolic part decrescendo to a varying distance (time) into the diastole → machinery murmur.
• In big PDA, a mid-diastolic murmur may be heard at the apex because of increased flow across the mitral valve, such a mid-diastolic murmur suggests a Qp:Qs greater than 2:1.