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Transposition of the Great Vessels

Transposition of the great vessels is a condition in which the anatomical inversion of the aorta and the pulmonary artery occurs and is one of the most common forms of cyanotic congenital heart disease.


Presentation

In neonates with pure transposition of the great vessels, respiratory distress and cyanosis are main clinical signs, usually appearing in the first few days of life, but symptoms may occur as early as several hours after birth [1]. If concomitant ASD, VSD or PDA is present, some oxygenated blood reaches the right heart and is eventually pumped into the aorta, which could delays the onset of symptoms up to 4-8 weeks, with minimal cyanosis [1]. In such cases, signs of heart failure such as tachypnea or tachycardia could be the presenting features [3].

Congestive Heart Failure
  • She died at 3 years of age of congestive heart failure and severe anemia. The only sickle cell painful crisis occurred during her terminal illness.[ncbi.nlm.nih.gov]
  • This case report describes the use of cardiac resynchronization therapy to treat symptomatic congestive heart failure in 2 patients with congenitally corrected transposition of the great vessels.[ncbi.nlm.nih.gov]
  • Signs of congestive heart failure develop rapidly, especially in infants with large ventricular septal defects. Definitive diagnosis is based on cardiac catheterization.[medical-dictionary.thefreedictionary.com]
  • Cyanosis within the first few days or weeks of life and congestive heart failure during a neonatal period and infancy are main clinical signs. The diagnosis can be made by echocardiography either prenatally or postnatally.[symptoma.com]
  • It might not be diagnosed until well into adulthood when congestive heart failure, heart murmurs and abnormal heart rhythms can develop.[heart.org]
Cyanotic Congenital Heart Disease
  • Transposition of the great vessels is a condition in which the anatomical inversion of the aorta and the pulmonary artery occurs and is one of the most common forms of cyanotic congenital heart disease.[symptoma.com]
  • Diagnosis and management of cyanotic congenital heart disease: part I. Indian J Pediatr. 2009 Jan. 76 (1):57-70. [Medline]. Khairy P, Clair M, Fernandes SM, et al.[emedicine.medscape.com]
  • It is the most common form of cyanotic congenital heart disease which presents in the newborn period. It is more common in males and the babies are usually normal birth weight and size. TOGA accounts for 5 to 7% of all congenital heart defects.[mottchildren.org]
  • Cyanotic congenital heart disease with decreased pulmonary flow. In: Silverman FN, ed. Caffey’s pediatric x-ray diagnosis: an integrated imaging approach. 9th ed. St Louis, Mo: Mosby, 1993 ; 772–806. Google Scholar 2 Swischuk LE.[doi.org]
Failure to Thrive
  • There is blueness of the skin (cyanosis), breathlessness and failure to thrive. Heart surgery is usually necessary.[medical-dictionary.thefreedictionary.com]
  • Other symptoms include: Difficulty breathing/shortness of breath Easily fatigued Lack of appetite and poor weight gain Failure to thrive Diagnosis of D-Transposition of the Great Vessels Physicians have several ways to make a TGA diagnosis.[rileychildrens.org]
Failure to Thrive
  • There is blueness of the skin (cyanosis), breathlessness and failure to thrive. Heart surgery is usually necessary.[medical-dictionary.thefreedictionary.com]
  • Other symptoms include: Difficulty breathing/shortness of breath Easily fatigued Lack of appetite and poor weight gain Failure to thrive Diagnosis of D-Transposition of the Great Vessels Physicians have several ways to make a TGA diagnosis.[rileychildrens.org]
Cyanosis
  • This mechanism leads to profound and life-threatening cyanosis.[symptoma.com]
  • The number of clinical signs (poor general status, cyanosis, respiratory distress, S2 increased and single, murmur, classical chest roentgenogram, abnormal ECG) present in each patient was three or less in 41%, only 13.5% had more than five signs.[ncbi.nlm.nih.gov]
  • However, if it is not, it typically has the following presentation: TGV commonly presents with cyanosis.[clinicaladvisor.com]
  • There is blueness of the skin (cyanosis), breathlessness and failure to thrive. Heart surgery is usually necessary.[medical-dictionary.thefreedictionary.com]
  • Baffle Leaks Small leaks commonly occur over time in the Mustard baffles and cause lower oxygen in the body (blueness or cyanosis) when blue blood again mixes with the red blood and goes out to the body.[nationwidechildrens.org]
Vascular Disease
  • When infants younger than 3 months old were excluded, eight of 85 (9%) had advanced pulmonary vascular disease.[ncbi.nlm.nih.gov]
  • Evaluation of the pulmonary venous pressure is of great importance, however, in differentiating pulmonary vascular disease from pulmonary hypertension secondary to patch obstruction of pulmonary venous return.[ncbi.nlm.nih.gov]
  • They had a left ventricular pressure of 43, 45, and 62 mm Hg, respectively, no evidence of pulmonary vascular disease, and either echocardiographic or angiocardiographic demonstration of LVOTO.[ncbi.nlm.nih.gov]
  • Learn more » Vascular Surgery Offering comprehensive care of vascular disease through preventive services, diagnostic expertise, minimally invasive therapies and traditional surgical techniques.[surgery.usc.edu]
  • Babies with TGA may develop early pulmonary vascular disease. This is an increase in the pressure in the lung blood vessels that cause changes that make it hard for them to accept low-pressure blood flow.[mottchildren.org]
Neurologic Manifestation
  • Her clinical course was complicated by neurologic manifestations but not by recurrent sickle cell vasooculsive episodes.[ncbi.nlm.nih.gov]

Workup

Transposition of great vessels can be detected during prenatal assessment and use of fetal echocardiography [4], but the diagnosis may be difficult to make, as great experience is necessary to distinct the vessels arising from the left and right heart, respectively [1]. If the diagnosis is made postnatally, arterial blood gas analysis and a complete blood count are vital in assessing the severity of hypoxemia and hemoglobin/hematocrit values [1]. Electrocardiography and chest X-rays are useful, but they may show normal findings [3].

Pericardial Effusion
  • Other adverse effects are bleeding at the skin site where the catheter is introduced (umbilicus or femoral vein), pericardial effusion (from small tear in outside wall of atrium), stroke (from introduction of thrombus or air embolus to the systemic arterial[clinicaladvisor.com]
Erythrocytosis
  • A child with homozygous sickle cell disease and transposition of the great vessels had erythrocytosis associated with markedly increased plasma erythropoietin activity.[ncbi.nlm.nih.gov]

Treatment

Initial management of hypoxemia, acidosis and hypoglycemia should be immediate through supplementation with oxygen, sodium bicarbonate and dextrose solution, respectively [1]. Administration of prostaglandin E1 (PGE1) is frequently recommended to keep the ductus arteriosus open and thus allow left-to-right shunting of oxygenated blood. The cornerstone of the treatment is surgical repair as early as possible [2]. Two procedures are recommended [3]:

  • Balloon atrial septostomy - This method involves a placement of a balloon-tipped catheter through the right atrium, foramen ovale and into the left atrium. The method provides a connection between the atria and enables entry of oxygenated blood into the right heart and into the aorta.
  • Arterial switch procedure - Favored because of its superior long-term results in terms of left ventricular function and survival rate (88% of patients survive 15 years). Complete physiological and anatomical repair of transposed vessels may be performed.

Prognosis

The prognosis is generally poor without appropriate therapy, which emphasizes the importance of an early diagnosis. Successful surgical treatment, however, carries a normal life expectancy with minimal impairment in 70-75% of patients, while the remaining 20-25% require reoperation or develop sequelae after the procedure [5]. Overall mortality rates are around 5% [5].

Etiology

The cause of discordant connection between the ventricles and their respective vessels that develops during embryogenesis is yet to be determined [6].

Epidemiology

Transposition of the great vessels constitutes approximately 5% of all CHDs and 10% of all neonatal cyanotic CHDs, with incidence rates estimated at 1 in 3,500-5,000 live births [1] [3]. For still unknown reasons, a significant predilection toward male gender is observed (male-to-female ration of 1.5-3.2:1) [3]. Although risk factors are currently not established, gestational diabetes, maternal use of antiepileptics and exposure to rodenticides and herbicides have been associated with this disorder [3].

Sex distribution
Age distribution

Pathophysiology

Transposition of the great vessels results in a situation where deoxygenated blood enters systemic circulation, while oxygenated blood flows in a closed loop comprised of the lungs and the left heart [3]. This mechanism leads to profound and life-threatening cyanosis. The concomitant presence of atrial septal defect (ASD), ventricular septal defect (VSD) or patent ductus arteriosus (PDA) enables mixing of oxygenated and deoxygenated blood and is thus critical for the initial survival after the birth.

Prevention

A prenatal diagnosis that allows early treatment can minimize mortality rates, making fetal echocardiography one of the main preventive strategies for transposition of the great vessels, but for all CHDs as well.

Summary

Transposition of the great vessels is a rare form of congenital heart disease (CHD) characterized by anatomical discordance of the aorta and the pulmonary artery [1]. The aorta arises from the right ventricle and the pulmonary artery starts from the left ventricle. Additional defects may be present, most common being ventricular septal defect (VSD) and left ventricular outflow tract obstruction [2], and symptoms also depend on their existence. Cyanosis within the first few days or weeks of life and congestive heart failure during a neonatal period and infancy are main clinical signs [1]. The diagnosis can be made by echocardiography either prenatally or postnatally. Early recognition of the disease may provide sufficient time to decide on optimal therapy [3] [4]. Supportive care, infusion of prostaglandin E1 and surgical repair in early life are main treatment options [4] [5].

Patient Information

Transposition of the great vessels is a rare congenital heart disease distinguished by complete inversion of the two main vessels coming out of the heart - the aorta and the pulmonary artery. Normally, the aorta arises from the left ventricle and transfer oxygenated blood from the lungs throughout the body, while pulmonary artery stems from the right ventricle and transfers deoxygenated blood from the venous system into the lungs. When transposition occurs, the aorta carries deoxygenated blood into systemic circulation, causing profound bluish discoloration of the skin (cyanosis) as early as several hours after birth. The diagnosis can be made by performing an ultrasound of the heart during a prenatal assessment, but the diagnosis can be missed, in which case signs and symptoms seen shortly after birth must raise suspicion toward transposition of the great vessels, but also to other forms of congenital heart disease. Echocardiography is then used for confirmation and treatment consists of supportive measures and immediate surgical treatment to correct the anomaly. With early recognition and successful surgical repair, the prognosis is very good, Transposition of the great vessels may be fatal if not diagnosed on time.

References

Article

  1. Rao PS. Diagnosis and management of cyanotic congenital heart disease: part I. Indian J Pediatr. 2009;76(1):57-70.
  2. McEwing RL, Chaoui R. Congenitally corrected transposition of the great arteries: clues for prenatal diagnosis. Ultrasound Obstet Gynecol. 2004;23(1):68-72.
  3. Martins P, Castela E. Transposition of the great arteries. Orphanet Journal of Rare Diseases. 2008;3:27.
  4. McGahan JP, Moon-Grady AJ, Pahwa A, et al. Potential pitfalls and methods of improving in utero diagnosis of transposition of the great arteries, including the baby bird's beak image. J Ultrasound Med. 2007;26(11):1499-510.
  5. Vouhé P. Transposition of the great arteries: a curable congenital heart defect? [Article in French] Rev Prat. 2012;62(3):305-308.
  6. Aster, JC, Abbas, AK, Robbins, SL, Kumar, V. Robbins basic pathology. Ninth edition. Philadelphia, PA: Elsevier Saunders; 2013.

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Last updated: 2019-07-11 20:03