Coarctation of the Aorta Clinical Presentation

Updated: Nov 20, 2018
  • Author: Syamasundar Rao Patnana, MD; Chief Editor: Stuart Berger, MD  more...
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Presentation

History

The presentation of patients with coarctation of the aorta (CoA) varies but may be discussed relative to the patients who present early, often with congestive heart failure (CHF), and the patients who present later, most often with hypertension.

Early presentation

The presence of associated defects and aortic arch anomalies, the extent of patency of the ductus arteriosus, the rapidity of the process of closure of the ductus arteriosus, and the level of pulmonary vascular resistance determine the timing of clinical presentation and the severity of symptoms. Young patients may present in the first few weeks of life with poor feeding, tachypnea, and lethargy and progress to overt CHF and shock. [15, 28] These patients may have appeared well prior to hospital discharge, and deterioration coincides with closure of the patent ductus arteriosus. Presentation may be abrupt and acute with ductal closure.

Development of symptoms is often accelerated by the presence of associated major cardiac anomalies, such as ventricular septal defect (VSD). Symptoms may be subtle at first, and patients may make repeated trips to the physician before finally presenting in extremis.

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 of other problems, such as trauma or more routine illness. Other presenting symptoms may include headaches, chest pain, fatigue, or even life-threatening intracranial hemorrhage. True claudication is rare, although an occasional child may experience pain or weakness in the legs.

Many patients are asymptomatic except for the incidentally noted hypertension. Frequently, coarctation of the aorta is not recognized by the primary care physician. [25, 26, 29] Palpation of femoral pulses and measurement of blood pressure during routine examination is necessary to avoid a delay in the diagnosis.

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Physical

As with history, physical examination may conveniently separate patients into 2 groups: those who present early with heart failure and those who present later with hypertension.

Early presentation

Neonates may be found to have tachypnea, tachycardia, and increased work of breathing and may even be moribund with shock. Keys to the diagnosis include blood pressure (BP) discrepancies between the upper and lower extremities and reduced or absent lower extremity pulses to palpation. However, when the infant is in severe heart failure, all pulses are diminished. Upon treatment for heart failure, prominent brachial pulses with weak or nonpalpable femoral arterial pulses may be discerned. Diminished pulses on examination should never be disregarded, since the digits appreciate the rate of change in BP, which may be diminished in ductally dependent coarctation, although the measured BP may not show discrepancies. In patients with an aberrant origin of the right subclavian artery from the aorta distal to the obstruction, such discrepancies in BP may not be present, although lower extremity pulses are diminished versus the carotid pulses.

Differential cyanosis (pink upper extremities with cyanotic lower extremities) may occur when right-to-left shunt across a patent ductus arteriosus provides flow to the lower body. Although often not obvious to the eye, differential cyanosis may be documented based on preductal and postductal pulse oximetry measurements and careful inspection. However, in the presence of lesions with large left-to-right shunt (eg, VSD), pulmonary artery saturations may approximate aortic saturations with less obvious differential oximetric findings. Reversed differential cyanosis (upper body cyanosis with normal lower-body oxygen saturation) may occur with transposition of the great arteries, patent ductus arteriosus, and pulmonary hypertension, resulting in right-to-left ductal shunting.

In patients with low cardiac output and ventricular dysfunction, pulses may be diminished diffusely, and BP gradients may seem minimal. Thus, in addition to coarctation, the differential diagnosis of perinatal circulatory insufficiency always includes left ventricular (LV) outflow obstruction, including aortic valve stenosis, subaortic stenosis, and supravalvar aortic stenosis, as well as severe mitral stenosis or insufficiency.

The murmur associated with coarctation of the aorta may be nonspecific yet is usually a systolic murmur in the left infraclavicular area and under the left scapula. Additional murmurs that result from the presence of associated abnormalities, such as VSD or aortic valve stenosis, may also be detected. An ejection click may signify the presence of a bicuspid aortic valve, whereas a gallop rhythm may indicate ventricular dysfunction.

Late presentation

Older infants and children may be referred for evaluation of hypertension or murmur. Hypertension in a fussy infant or a child may be attributed to agitation; thus, comparing BP readings in all the 4 extremities is important. Occasionally, the left arm pressure is lower than the right arm pressure if the origin of the left subclavian artery is involved in the coarctation. Similarly, anomalous origin of the right subclavian artery (below the level of coarctation) may produce decreased or absent right brachial pulse. Careful simultaneous palpation of upper and lower extremity pulses may help confirm suspected coarctation.

In older children, adolescents, and adults, coarctation of the aorta is best diagnosed clinically based on simultaneous palpation of femoral and brachial pulses. Blood pressure in both arms and one leg must be determined; 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.

Other findings on physical examination may include 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.

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Causes

Numerous theories have been proposed for the etiology of coarctation of the aorta, including postnatal ductal constriction, [2, 3] translocation of ductal tissue onto the aorta, [4, 5] and a theory that alterations in intrauterine blood flow cause altered flow through the aortic arch and result in the substrate for coarctation. [2] Coarctation of the aorta manifests when the ductus closes starting at the pulmonary end, with gradual involution of ductal tissue toward the aorta.

Similar to most forms of congenital heart disease (CHD), the etiology of coarctation of the aorta may be explained by multifactorial inheritance hypothesis. [30] The prevalence of coarctation of the aorta in genetic abnormalities such as Turner syndrome (45,X), is as high as 15-20%. Familial patterns of inheritance of coarctation have been reported, as well as for other left heart obstructive lesions. An increase in seasonal occurrence of coarctation of the aorta is reported in September and November.

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