PANCE Blueprint Cardiology (13%)

Congenital Heart Disease (PEARLS)

The NCCPA™ PANCE Cardiology System Content Blueprint covers five types of congenital heart disease. Congenital heart disease can be divided into two categories: cyanotic and noncyanotic

Congenital Heart Disease Quick Cram
Atrial septal defect Systolic murmur heard best at the upper left sternal border with a wide, fixed, split s2
Coarctation of the aorta Grade II/VI murmur along the left sternal border that radiates into the left axilla and the left side of the back. Femoral pulses are decreased bilaterally. Rib notching on x-ray
Patent ductus arteriosus A rough, continuous "machinery murmur" at the upper left sternal border (pulmonary area)
Ventricular septal defect Loud, harsh, pansystolic murmur at the lower left sternal border
Tetralogy of Fallot Failure to thrive. "tet spells," baby with cyanosis and loss of consciousness with crying

Four features: PROVe

  1. ulmonary Stenosis
  2. R ight ventricular hypertrophy
  3. verriding aorta
  4. V entricular septal defect
Non Cyanotic heart defects

Atrial septal defect
Patient will present as → a 30-year-old woman with no significant past medical history presents to the clinic with complaints of increasing shortness of breath and palpitations, particularly during exercise. She also mentions a recent episode of fainting after climbing a flight of stairs. On examination, you note a grade III/VI systolic ejection murmur is present in the 2nd left intercostal space (pulmonic position) with an early to mid-systolic rumble and fixed splitting of the second heart sound (s2) during inspiration and expiration. She has no signs of heart failure. A chest X-ray reveals a prominent pulmonary artery, and an EKG shows a right bundle branch block. An echocardiogram is performed, which demonstrates a large secundum atrial septal defect (ASD) with a significant left-to-right shunt. Cardiac catheterization confirms the diagnosis, showing elevated pulmonary artery pressures. The patient is referred to a cardiologist for further management, including the possibility of surgical closure of the ASD to prevent long-term complications such as pulmonary hypertension and heart failure.

Atrial Septal Defect

Noncyanotic Foramen ovale fails to close. Ostium Secundum is most common

Physical Exam: Wide, fixed, and split second heart sound (S2). Systolic ejection murmur at the second left intercostal space with an early to mid-systolic rumble. Failure to thrive.

Diagnosis: Echocardiography - DEFINITIVE DIAGNOSIS will demonstrate a septal defect

  • With a significant shunt, ECG may show right axis deviation, right ventricular hypertrophy, or right bundle branch block (with an rSR′ pattern in V1 )
  • Chest x-ray shows cardiomegaly with dilatation of the right atrium and right ventricle, a prominent main pulmonary artery segment, and increased pulmonary vascular markings
  • Cardiac catheterization is not usually necessary unless hemodynamics must be further characterized before surgical repair

Treatment:

  • Symptomatic: Diuretics, ACE inhibitors, digoxin
  • Definitive: Surgical closure

ASD Chest X-Ray

Abnormal chest X-ray as seen in a patient of Atrial septal defect

Coarctation of aorta
Patient will present as → a 15-year-old boy, previously healthy, presents to your clinic with complaints of leg fatigue and cramping after physical activities, especially when climbing stairs or playing soccer. He also reports frequent headaches. On examination, you find a significant discrepancy in blood pressure between his arms and legs, with higher readings in the arms. Additionally, there is a notable delay in the femoral pulse compared to the brachial pulse. Auscultation reveals a systolic murmur best heard in the left interscapular region. His medical history is unremarkable, and there are no known congenital heart defects in the family. However, he mentions that he has always been slightly shorter than his peers. CXR is performed, demonstrating a “figure of 3 sign” and an echocardiogram suggests a narrowing of the aorta distal to the left subclavian artery, consistent with coarctation of the aorta. A CT angiogram is ordered for further assessment, confirming the diagnosis and identifying the extent of the narrowing. The cardiology team is consulted for management, which may include surgical repair or balloon angioplasty, depending on the severity and anatomical characteristics of the coarctation. The patient is also started on antihypertensive medication to control his blood pressure until definitive treatment can be arranged.

Coarctation of the Aorta

Noncyanotic - Typically found just after the vessels are given off to the left arm. This is a cause of high blood pressure, as the kidneys do not "see" as high of a blood pressure as they would like

  • This leads them to release substances to raise the pressure/renin
  • The person is in their teens or twenties - need to rule out coarctation in a young adult with unexplained HTN
  • The key finding is elevated blood pressure in the arms, with low blood pressure in the legs
  • Pulses in the leg may be decreased in intensity or delayed compared with their occurrence in the arm.

Ejection murmur is heard at the aortic area and left sternal border that radiates into the left axilla and left back

A bicuspid valve is seen in 50% of cases - also increases the incidence of cerebral berry aneurysm

DX: Definitive Diagnosis is by echocardiography or by CT or MR angiography

  • EKG = LVH
  • CXR: notching of ribs, dilated L subclavian artery, and post-stenotic aortic dilation. The aortic shadow shows a "figure of 3 sign" due to the dilatation of the proximal and distal segments surrounding the coarctation

TX: Treatment is balloon angioplasty with stent placement or surgical correction

  • Surgical repair is usually performed between the ages of 2 and 4 years
  • Prostaglandin E1 should be administered to neonates with aortic coarctation to keep the ductus arteriosus open.
  • Emergent surgical repair is performed in cases of circulatory shock, cardiomegaly, severe hypertension, or severe congestive heart failure
  • If untreated, adults die by the age of 50 y/o due to aortic rupture, CVA, or aortic dissection
Patent ductus arteriosus
Patient will present as → a 6-month-old infant girl with a history of prematurity is brought to the PA for a routine check-up. Her mother mentions that the baby seems to tire more easily than expected during feeding and appears to breathe faster than her older child did at the same age. On examination, the PA notes a bounding pulse and a continuous machinery-like murmur best heard at the left upper sternal border at the second intercostal space (pulmonary area). The infant also shows mild tachypnea and tachycardia. Her growth is slightly below the expected percentile for her age. The PA orders an echocardiogram, which reveals a patent ductus arteriosus (PDA), a persistent connection between the aorta and the pulmonary artery. A consultation with a cardiologist is arranged, and they recommend starting the infant on a course of indomethacin, a medication that may help close the PDA. If medical management is unsuccessful, the possibility of surgical closure or catheter-based intervention is discussed to correct the defect, given the symptoms and impact on the infant’s growth and development.

Patent Ductus Arteriosus

Noncyanotic - Ductus arteriosus is a normal fetal structure => If it remains open, it's called a patent ductus arteriosus

  • 3-6-week infants can present with tachypnea, diaphoresis, inability or difficulty with feeding, and no weight gain.
  • Low birth weight premature infant. Adults with PDA may present with signs and symptoms of heart failure

Rough Machinery” murmur late in systole at the time of S2 making it loud

  • Murmur is best heard at the pulmonic area 2nd ICS left sternal border and inferior to the clavicle bounding pulses and a widened pulse pressure
  • Because Prostaglandin E-2 is responsible for keeping the ductus patent - inhibitors of prostaglandin will close it
    • This is why NSAIDs are the treatment and are contraindicated in pregnancy

Diagnose: Echocardiogram

Treatment: Indomethacin has been used to help close a PDA

  • If the connection persists, surgical or catheter-based correction is indicated
Ventricular septal defect
Patient will present as → a 4-year-old boy who is brought to your office by his parents because he gets tired very easily and cannot keep up with the other children. On exam, you hear a loud, harsh, holosystolic murmur at the left lower sternal border without radiation to the axillae. An echocardiogram is performed and reveals a ventricular septal defect (VSD), with results seen here.

Ventral Septal Defect

Noncyanotic - VSD is the most common pathologic murmur in childhood

  • In this case, the hole or "defect" is in the heart muscle between the ventricles (the intraventricular "septum")
  • As in the case of ASD, the heart can dilate, the muscle can become weak, and the pressures in the pulmonary arteries can increase (pulmonary hypertension) due to the increase in blood flow

PE: Loud, harsh, holosystolic murmur, left to right - heard best at the lower left sternal border

  • Like ASDs, the size and, therefore, the clinical course of these defects is quite variable
  • Some remain large, while others become smaller over time
  • It is not unusual for small-to-medium-sized VSDs to eventually close spontaneously

DX: Echocardiogram

Treatment: Most close by age 6, surgery if large

Ventricular Septal Defect.jpg

Echocardiogram of a ventricular septal defect.

Cyanotic defects

Tetralogy of Fallot
Patient will present as → a 2-week-old newborn brought to the ER by his mom who reports a sudden loss of consciousness during feeding and with crying. She also has noticed that the infant’s lips have turned blue on three occasions during feeding. His blood pressure is 75/45 mmHg, his pulse is 170/min, and respirations are 44/min. A grade 3/6 harsh systolic ejection murmur is heard at the left upper sternal border. A CXR shows a small boot-shaped heart and decreased pulmonary vascular markings.

Tetralogy of Fallot

Cyanotic

Presentation: Difficult feeding, failure to thrive. "tet spells," a baby with cyanosis and loss of consciousness with crying

Four features: PROVe

  1. ulmonary Stenosis
  2. R ight ventricular hypertrophy
  3. verriding aorta
  4. V entricular septal defect

Physical exam: Crescendo-decrescendo, holosystolic murmur at LSB radiating to the back

  • The murmur is usually present at birth
  • The murmur may get louder during exercise or crying

DX: Echocardiography is the diagnostic modality of choice. This test can clearly define the four abnormalities as well as provide important information about aortic arch anatomy

  • A chest x-ray classically shows a boot-shaped heart
  • EKG may show enlarged Right Atria and Right Ventricle. Check the width of QRS annually via ECG to reduce the risk of sudden cardiac death
  • Cardiac catheterization may be required in some patients to fully define the anatomy
  • Squatting decreases the cyanosis in tetralogy of Fallot

Chest radiograph: Boot-shaped heart

TX: Treatment is surgical. Most patients have surgery within the first year of life

Boot-shaped heart

CXR from a patient with tetralogy of Fallot (TOF). The white shadow is the cardiac silhouette. It looks like a wooden boot.

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