COARCTATION OF THE AORTA

DEFINITION
- A congenital heart defect in which there is a narrowing of the aorta that can occur in
isolation or can occur with other lesions, most commonly bicuspid aortic valve and
ventricular septal defect. The most common site of lesion is at the ductus arteriosus.

ETIOLOGY
- The most common etiology of coarctation of the aorta is constriction of the aorta in the
region of the patent ductus arteriosus or ductal ligamentum. The ductal tissue is thought
to cause constriction in the adjacent region of the aorta. This narrows the lumen of the
aorta.
- Coarctation also can be caused by and aortic arch hypoplasia and as a component of
other left-sided heart lesions, such as mitral stenosis, aortic stenosis, hypoplastic left
heart syndrome.
- Mid-thoracic coarctation can occur with mid-aortic syndromes. Over time, the body
compensates by developing collaterals around the coarctation segment.
- Translocation of the ductal tissue onto the aorta

EPIDEMIOLOGY
- It is found in 6% to 8% of patients with congenital heart diseases.
- Prevalence is lower in Asian countries than in European and North American
- Children with Turner syndrome, another genetic abnormality, have an increased risk of
coarctation of the aorta.
- Bicuspid aortic valve is commonly associated with this condition
- First-degree relatives diagnosed with an obstructive left-sided cardiac lesion are ten
times the risk of this disease than other cardiac lesions

PATHOPHYSIOLOGY
- Coarctation of the aorta imposes significant afterload on the left ventricle (LV), which
results in increased wall stress and compensatory ventricular hypertrophy.
- As the ductus (aortic end) constricts, the left ventricular afterload rapidly increases, with
a resultant increase in left ventricular pressures (systolic and diastolic).
- This causes elevation of the left atrial pressure, which may open the foramen ovale,
causing left-to-right shunt and dilatation of the right atrium and right ventricle. If the
foramen ovale does not open, pulmonary venous pressures and pulmonary artery
pressures increase, and right ventricular dilatation develops.

CLINICAL MANIFESTATIONS
- May be asymptomatic during infancy if it is less severe
- Shock with poor perfusion, gallop, murmur, and history of poor feeding is present in
neonates

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- Headache, chest pain, fatigue, and leg claudication during physical activities can be
present as children age
- Upper-extremity hypertension is often present
- Strong pulses
- Diminished or delayed femoral pulses
- Low arterial BP in the LE

MEDICAL DIAGNOSIS
- Chest X-Ray
- 3 sign in the upper left mediastinal shadow
- ECG
- Shows left ventricular hypertrophy
- CT Scan
- Show arch obstruction or hypoplasia
- MR angiography
- ABG analysis
- Electrolyte levels

CLINICAL COURSE
EARLY PRESENTATION
- Young patients may present in the first few weeks of life with poor feeding, tachypnea,
and lethargy and progress to overt CHF and shock.
- Development of symptoms is often accelerated by the presence of associated major
cardiac anomalies, such as ventricular septal defect (VSD).
- Symptoms may be subtle

LATE PRESENTATION
- Patients often present after the neonatal period with hypertension or a murmur.
- These patients often have not developed overt CHF because of the presence of arterial
collateral vessels.
- The diagnosis is often made after hypertension is noted as an incidental finding during
evaluation.
- Other presenting symptoms may include headaches, chest pain, fatigue, or even life-
threatening intracranial hemorrhage.

TREATMENT
- Treatment in patients with congestive heart failure (CHF) includes the use of diuretics
and inotropic drugs.

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- Prostaglandin E1 (0.05-0.15 mcg/kg/min) is infused intravenously to open the ductus
arteriosus.
- Ventilatory assistance is provided to patients with markedly increased work of
breathing.
- Infusion of inotropic drugs (dopamine, dobutamine, epinephrine) is useful when
ventricular dysfunction is present, especially with hypotension.
- A Foley catheter is inserted to monitor renal perfusion and urine output.
- Balloon angioplasty
- Aortic stents

PROGNOSIS
- Coarctation of the aorta is a lifelong disease with a guarded prognosis.
- Mortality rate in patients in whom coarctation of the aorta is not surgically repaired is
90% by age 50 years, with a mean age of 35 years.
- Death appears to be secondary to recoarctation repair, aneurysms at site of coarctation
repair or at a remote site, congestive heart failure, bacterial endocarditis, and
hypertension.

EBSTEIN ANOMALY OF THE TRICUSPID VALVE

DEFINITION
- A congenital malformation of the heart that is characterized by apical displacement of
the septal and posterior tricuspid valve leaflets. The atrium may become enlarged
because of the extra volume of blood; in severe cases, heart failure can result. Ebstein's
anomaly of the tricuspid valve can also be associated with problems in the electrical
system that controls the heart’s pumping.
ETIOLOGY
- A congenital disease of uncertain cause
- It can also be caused by
- Maternal ingestion of lithium in first trimester of pregnancy
- Maternal benzodiazepine use
- Maternal exposure to varnishing substances
- Maternal history of previous fetal loss

EPIDEMIOLOGY
- Accounts for 0.5% of cases of congenital heart diseases
- More common in children of white females

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- Equal in male and female

PATHOPHYSIOLOGY
- In Ebstein anomaly, the process of the undermining of the right ventricular free wall is
incomplete and falls short of reaching the level of the AV junction. In addition, the apical
portions of the valve tissue, which normally undergo resorption, fail to resorb
completely. This results in distortion and displacement of the tricuspid valve leaflets,
and a part of the right ventricle becomes atrialized. In one study involving 50 hearts
with the anomaly, the entire right ventricle was found to be morphologically abnormal
- The hemodynamic consequences of Ebstein anomaly result from displaced and
malformed tricuspid leaflets and atrialization of the right ventricle. The leaflet anomaly
leads to tricuspid regurgitation.
- During ventricular systole, the atrialized part of the right ventricle contracts with the rest
of the right ventricle, which causes a backward flow of blood into the right atrium,
accentuating the effects of tricuspid regurgitation.

CLINICAL MANIFESTATIONS
- Cyanosis
- Fatigue and dyspnea
- Palpitations
- Sudden cardiac death
- Paroxysmal supraventricular tachycardia
- Right heart failure
- Clubbing
- Murmurs

MEDICAL DIAGNOSIS
- Chest radiograph
- ECG
- MRI
- Electrophysiologic studies

CLINICAL COURSE
- Mild forms of Ebstein anomaly may not cause symptoms until later in adulthood. If signs
and symptoms are present, they may include:
- Shortness of breath, especially with exertion
- Fatigue
- Heart palpitations or abnormal heart rhythms (arrhythmias)
- A bluish discoloration of the lips and skin caused by low oxygen (cyanosis)

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TREATMENT
- Antibiotic prophylaxis for infective endocarditis
- ACE inhibitors, diuretics, and digoxin for heart failure
- Antiarrhythmic drugs
- Correction of the underlying tricuspid valve and right ventricular abnormalities (tricuspid
valve repair)

PROGNOSIS
- Depends on the severity of the disease and treatment options available.
- Poor prognostic signs include the following:
- Male sex
- Early onset
- Septal leaf attachment ratio
- Increasing ratio of combined area of right atrium and atrialized right ventricle to that
of the functional right ventricle
- 5% of patients live beyond 50 years

SOURCES:
- Coarctation of the Aorta. (2019, February 03). Retrieved from
https://emedicine.medscape.com/article/895502-overview#a4
- Coarctation of the Aorta - Pediatrics. (n.d.). Retrieved from
https://www.msdmanuals.com/professional/pediatrics/congenital-
cardiovascular-anomalies/coarctation-of-the-aorta
- Law, M. A. (2019, January 11). Coarctation of the Aorta. Retrieved from
https://www.ncbi.nlm.nih.gov/books/NBK430913/
- Ebstein Anomaly Treatment & Management: Medical Care, Surgical Care, Long-Term
Monitoring. (2018, September 25). Retrieved from
https://emedicine.medscape.com/article/154447-treatment#d6