Short stature female with the history of wearing socks in the summer season. On physical examination shows icy cold toes with cyanosis. CXR done shows?
Ans. (c) Coarctation of aorta. Coarctation of aorta Ref- Image Source- Coarctation of the aorta (CoA) refers to a narrowing of the aortic lumen. Epidemiology Coarctations account for between 5-8% of all congenital heart defects. They are more frequent in males, M:F ratio of ~2-3:1. Clinical presentation Varies accordingly to the degree of stenosis and the associated abnormalities. Patients may be asymptomatic in a setting of a non-severe stenosis. Children and adults can present with angina pectoris and leg claudication. On clinical examination, diminished femoral pulses and differential blood pressure between upper and lower extremities may be noted. Pathology It can be primarily divided into two types: infantile (pre-ductal) form: is characterised by diffuse hypoplasia or narrowing of the aorta from just distal to the brachiocephalic artery to the level of ductus arteriosus, typically with a more discrete area of constriction just proximal to the ductus but distal to the origin of the left subclavian artery. Therefore, the blood supply to the descending aorta is via the patent ductus arteriosus. adult (juxta-ductal, post-ductal or middle aortic) form: is characterised by a short segment abrupt stenosis of the post-ductal aorta. It is due to thickening of the aortic media and typically occurs just distal to the ligamentum arteriosum (a remnant of the ductus arteriosus). Associations As with many congenital abnormalities, coarctation of the aorta is associated with other congenital anomalies. cardiac: bicuspid aortic valve: most common associated defect and seen in 75-80% ventricular septal defect (VSD) cyanotic congenital lesions including truncus arteriosus transposition of the great arteries (TGA), especially with a sub-pulmonic VSD and overriding pulmonary artery (Taussig-Bing) mitral valve defects including hypoplastic mitral valve parachute mitral valve abnormal papillary muscles patent ductus arteriosus non cardiac: intracranial berry aneurysms spinal scoliosis syndromic associations: cardiac Shone syndrome wider syndromic PHACE syndrome Turner syndrome: a coarctation can be seen in 15-20% of those with Turner syndrome Radiographic features Plain radiograph figure of 3 sign: contour abnormality of the aorta inferior rib notching: Roesler sign secondary to dilated intercostal collateral vessels which form as a way to bypass the coarctation and supply the descending aorta the dilated and tortuous vessels erode the inferior margins of the ribs, resulting in notching seen only in long standing cases, and therefore not seen in infancy (unusual in patients <5 years of age)7 seen in 70% of cases presenting in older children or adults if the coarctation is distal to either subclavian artery, then increased flow occurs through the subclavian artery, forming a collateral pathway via the internal thoracic artery, anterior intercostal artery, posterior intercostal artery and then into the descending thoracic aorta usually the 4th to 8th ribs are involved; occasionally involves the 3rd to 9th ribs as the 1st and 2nd posterior intercostal arteries arise from the costocervical trunk (a branch of the subclavian artery) and do not communicate with the aorta, these are not involved in collateral formation, and the 1st and 2nd ribs do not become notched if bilateral rib notching: the coarctation must be distal to the origin of both subclavian arteries, to enable bilateral collaterals to form if unilateral right rib notching then the coarctation lies distal to the brachiocephalic trunk, but proximal to the origin of the left subclavian artery or there may be a right sided aortic arch with abberent left subclavian artery distal to coarctation collaterals cannot form on the left, as the left subclavian is distal to the coarctation if unilateral left rib notching, then this suggests an associated aberrant right subclavian artery arising after the coarctation. The coarctation is distal to the origin of the left subclavian artery, therefore collaterals form on the left. Collaterals cannot form on the right, as the aberrant right subclavian artery arises after the coarctation Antenatal ultrasound Useful in assessing for infantile coarctations. The suprasternal notch-long axis views are particularly considered helpful. The fetal right ventricle can be appear enlarged in severe coarctations although this alone is not a specific feature. Occasionally an aortic arch view may directly show a narrowing. Angiography: CTA/MRA/DSA All modalities are capable of delineating the coarctation as well as collateral vessels, most common collateral pathway being subclavian artery to internal mammary artery to intercostal arteries (resulting in inferior rib notching) to post-coarctation part of descending thoracic aorta. Treatment and prognosis The urgency of treatment depends on the presence of congestive cardiac failure. This is usually the case in severe coarctations found in infancy. In less severe cases, elective treatment when the child is older (typically ~2 years of age) is preferred 3. Treatment can be either primary surgical repair with excision of the coarctation and end-to-end anastomosis, or balloon angioplasty. Subclavian flap repair is a common surgical technique used, where the origin and proximal left subclavian artery is excised, opened up and sutured onto the aorta. If the subclavian is ligated, it is usually anastomosed onto the left common carotid artery. Complications neonatal heart failure subarachnoid haemorrhage from a ruptured berry aneurysm aortic dissection infective endocarditis: in the context of an added infective insult mycotic aneurysm: in the context of an added infective insult Differential diagnosis Imaging differential considerations include: pseudo-coarctation of the aorta: elongation, narrowing or kinking with no pressure gradient or collateral formation, no rib notching chronic large vessel arteritis, e.g. chronic phase of Takayasu arteritis
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Coarctation of aorta
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