Clinical manifestations and diagnosis of coarctation of the aorta
- Brojendra N Agarwala, MD
Brojendra N Agarwala, MD
- Professor of Pediatrics
- Pritzker School of Medicine of the University of Chicago
- Emile Bacha, MD, FACS
Emile Bacha, MD, FACS
- Calvin F. Barber Professor of Surgery
- Columbia University College of Physicians and Surgeons
- Qi Ling Cao, MD
Qi Ling Cao, MD
- Director, Echocardiography Research Laboratory, Cardiac Program
- Sidra Medical and Research Center
- Doha, Qatar
- Ziyad M Hijazi, MD, MPH, FAAP, FACC, MSCAI, FAHA
Ziyad M Hijazi, MD, MPH, FAAP, FACC, MSCAI, FAHA
- Professor of Pediatrics, Weill Cornell Medicine
- Chairman, Department of Pediatrics & Director, Cardiac Program
- Sidra Medical & Research Center
- Doha, Qatar
- Section Editors
- David R Fulton, MD
David R Fulton, MD
- Section Editor — Pediatric Cardiology
- Associate Professor of Pediatrics
- Harvard Medical School
- Heidi M Connolly, MD, FASE
Heidi M Connolly, MD, FASE
- Section Editor — Congenital Heart Disease
- Professor of Medicine
- Mayo Medical School
Coarctation of the aorta is a narrowing of the descending aorta, which is typically located at the insertion of the ductus arteriosus just distal to the left subclavian artery (figure 1). This defect generally results in left ventricular pressure overload.
The clinical manifestations and diagnosis of coarctation of the aorta will be reviewed here. The management of coarctation, including corrective treatment options and outcome, such as the risk of recurrent coarctation, is discussed separately. (See "Management of coarctation of the aorta".)
Coarctation of the aorta accounts for 4 to 6 percent of all congenital heart defects with a reported prevalence of approximately 4 per 10,000 live births [1,2]. It occurs more commonly in males than in females (59 versus 41 percent) . Most cases are sporadic.
PATHOGENESIS AND ETIOLOGY
Although there are acquired causes, the etiology of coarctation of the aorta is generally congenital.
Congenital — The vast majority of coarctation cases are congenital. Although the precise pathogenesis is unknown, the two main theories for the development of congenital coarctation of the aorta are:
- Reller MD, Strickland MJ, Riehle-Colarusso T, et al. Prevalence of congenital heart defects in metropolitan Atlanta, 1998-2005. J Pediatr 2008; 153:807.
- Hoffman JI, Kaplan S. The incidence of congenital heart disease. J Am Coll Cardiol 2002; 39:1890.
- Report of the New England Regional Infant Cardiac Program. Pediatrics 1980; 65:375.
- Rudolph AM, Heymann MA, Spitznas U. Hemodynamic considerations in the development of narrowing of the aorta. Am J Cardiol 1972; 30:514.
- Wielenga G, Dankmeijer J. Coarctation of the aorta. J Pathol Bacteriol 1968; 95:265.
- Russell GA, Berry PJ, Watterson K, et al. Patterns of ductal tissue in coarctation of the aorta in the first three months of life. J Thorac Cardiovasc Surg 1991; 102:596.
- Ho SY, Anderson RH. Coarctation, tubular hypoplasia, and the ductus arteriosus. Histological study of 35 specimens. Br Heart J 1979; 41:268.
- Vogt M, Kühn A, Baumgartner D, et al. Impaired elastic properties of the ascending aorta in newborns before and early after successful coarctation repair: proof of a systemic vascular disease of the prestenotic arteries? Circulation 2005; 111:3269.
- Niwa K, Perloff JK, Bhuta SM, et al. Structural abnormalities of great arterial walls in congenital heart disease: light and electron microscopic analyses. Circulation 2001; 103:393.
- Isner JM, Donaldson RF, Fulton D, et al. Cystic medial necrosis in coarctation of the aorta: a potential factor contributing to adverse consequences observed after percutaneous balloon angioplasty of coarctation sites. Circulation 1987; 75:689.
- McBride KL, Pignatelli R, Lewin M, et al. Inheritance analysis of congenital left ventricular outflow tract obstruction malformations: Segregation, multiplex relative risk, and heritability. Am J Med Genet A 2005; 134A:180.
- Wessels MW, Berger RM, Frohn-Mulder IM, et al. Autosomal dominant inheritance of left ventricular outflow tract obstruction. Am J Med Genet A 2005; 134A:171.
- Sehested J. Coarctation of the aorta in monozygotic twins. Br Heart J 1982; 47:619.
- Eckhauser A, South ST, Meyers L, et al. Turner Syndrome in Girls Presenting with Coarctation of the Aorta. J Pediatr 2015; 167:1062.
- Wong SC, Burgess T, Cheung M, Zacharin M. The prevalence of turner syndrome in girls presenting with coarctation of the aorta. J Pediatr 2014; 164:259.
- D'Souza SJ, Tsai WS, Silver MM, et al. Diagnosis and management of stenotic aorto-arteriopathy in childhood. J Pediatr 1998; 132:1016.
- Pagni S, Denatale RW, Boltax RS. Takayasu's arteritis: the middle aortic syndrome. Am Surg 1996; 62:409.
- Sheikhzadeh A, Giannitsis E, Gehl HB, et al. Acquired thromboatheromatous coarctation of the aorta: acquired coarctation of the aorta. Int J Cardiol 1999; 69:87.
- Teo LL, Cannell T, Babu-Narayan SV, et al. Prevalence of associated cardiovascular abnormalities in 500 patients with aortic coarctation referred for cardiovascular magnetic resonance imaging to a tertiary center. Pediatr Cardiol 2011; 32:1120.
- Keane JF, Flyer DC. Coarctation of the aorta. In: Nadas' Pediatric Cardiology, 2nd ed, Keane JF, Lock JE, Fyler DC (Eds), Saunders Elsevier, Philadelphia 2006. p.627.
- Beekman RH III. Coarctation of the Aorta. In: Moss and Adams' Heart Disease in Infants, Children, and Adolescents, 6th ed, Allen HD, Driscoll DJ, Shaddy RE, Feltes TF (Eds), WK Lippincott Willams and Wilkins, Philadelphia 2008. Vol 2, p.987.
- Tobian L Jr. A viewpoint concerning the enigma of hypertension. Am J Med 1972; 52:595.
- Jenkins NP, Ward C. Coarctation of the aorta: natural history and outcome after surgical treatment. QJM 1999; 92:365.
- Warnes CA, Williams RG, Bashore TM, et al. ACC/AHA 2008 Guidelines for the Management of Adults with Congenital Heart Disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (writing committee to develop guidelines on the management of adults with congenital heart disease). Circulation 2008; 118:e714.
- Brickner ME, Hillis LD, Lange RA. Congenital heart disease in adults. First of two parts. N Engl J Med 2000; 342:256.
- Alpert BS, Bain HH, Balfe JW, et al. Role of the renin-angiotensin-aldosterone system in hypertensive children with coarctation of the aorta. Am J Cardiol 1979; 43:828.
- HODES HL, STEINFELD L, BLUMENTHAL S. Congenital cerebral aneurysms and coarctation of the aorta. Arch Pediatr 1959; 76:28.
- Connolly HM, Huston J 3rd, Brown RD Jr, et al. Intracranial aneurysms in patients with coarctation of the aorta: a prospective magnetic resonance angiographic study of 100 patients. Mayo Clin Proc 2003; 78:1491.
- Curtis SL, Bradley M, Wilde P, et al. Results of screening for intracranial aneurysms in patients with coarctation of the aorta. AJNR Am J Neuroradiol 2012; 33:1182.
- Cook SC, Hickey J, Maul TM, et al. Assessment of the cerebral circulation in adults with coarctation of the aorta. Congenit Heart Dis 2013; 8:289.
- Donti A, Spinardi L, Brighenti M, et al. Frequency of Intracranial Aneurysms Determined by Magnetic Resonance Angiography in Children (Mean Age 16) Having Operative or Endovascular Treatment of Coarctation of the Aorta (Mean Age 3). Am J Cardiol 2015; 116:630.
- Banna MM, Rose PG, Pearce GW. Coarctation of the aorta as a cause of spinal subarachnoid hemorrhage. Case report. J Neurosurg 1973; 39:761.
- Watson AB. Spinal subarachnoid haemorrhage in patient with coarctation of aorta. Br Med J 1967; 4:278.
- Chadduck WM, Cathey SL, Gearhart AT, et al. Paraplegia caused by coarctation of the aorta and hydrocephalus. Childs Nerv Syst 1986; 2:162.
- Head CE, Jowett VC, Sharland GK, Simpson JM. Timing of presentation and postnatal outcome of infants suspected of having coarctation of the aorta during fetal life. Heart 2005; 91:1070.
- Wren C, Reinhardt Z, Khawaja K. Twenty-year trends in diagnosis of life-threatening neonatal cardiovascular malformations. Arch Dis Child Fetal Neonatal Ed 2008; 93:F33.
- Brown KL, Ridout DA, Hoskote A, et al. Delayed diagnosis of congenital heart disease worsens preoperative condition and outcome of surgery in neonates. Heart 2006; 92:1298.
- Lannering K, Bartos M, Mellander M. Late Diagnosis of Coarctation Despite Prenatal Ultrasound and Postnatal Pulse Oximetry. Pediatrics 2015; 136:e406.
- Matsui H, Mellander M, Roughton M, et al. Morphological and physiological predictors of fetal aortic coarctation. Circulation 2008; 118:1793.
- Teien DE, Wendel H, Björnebrink J, Ekelund L. Evaluation of anatomical obstruction by Doppler echocardiography and magnetic resonance imaging in patients with coarctation of the aorta. Br Heart J 1993; 69:352.
- Greenberg SB, Balsara RK, Faerber EN. Coarctation of the aorta: diagnostic imaging after corrective surgery. J Thorac Imaging 1995; 10:36.
- Lu CW, Wang JK, Chang CI, et al. Noninvasive diagnosis of aortic coarctation in neonates with patent ductus arteriosus. J Pediatr 2006; 148:217.
- Nielsen JC, Powell AJ, Gauvreau K, et al. Magnetic resonance imaging predictors of coarctation severity. Circulation 2005; 111:622.
- Muzzarelli S, Meadows AK, Ordovas KG, et al. Prediction of hemodynamic severity of coarctation by magnetic resonance imaging. Am J Cardiol 2011; 108:1335.
- Marek J, Skovránek J, Hucín B, et al. Seven-year experience of noninvasive preoperative diagnostics in children with congenital heart defects: comprehensive analysis of 2,788 consecutive patients. Cardiology 1995; 86:488.
- PATHOGENESIS AND ETIOLOGY
- - Genetic factors
- Anatomical variants
- Other cardiac lesions
- CLINICAL MANIFESTATIONS
- Manifestations according to age
- - Neonates
- - Older infants and children
- - Adults
- Natural history
- Physical findings
- - Blood pressure and pulses
- - Cardiac examination
- Noncardiac manifestations
- - Intracranial aneurysms
- - Turner syndrome
- ECG and X-ray findings
- - Electrocardiogram
- - Chest radiograph
- Prenatal diagnosis
- Postnatal diagnosis
- - Echocardiography
- - Magnetic resonance imaging/computed tomography
- - Cardiac catheterization
- DIFFERENTIAL DIAGNOSIS
- INFORMATION FOR PATIENTS
- SUMMARY AND RECOMMENDATIONS