Transposition of the great arteries differential diagnosis

Transposition of the great vessels Microchapters
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-In-Chief: Priyamvada Singh, M.B.B.S. [2]; Cafer Zorkun, M.D., Ph.D. [3]; Keri Shafer, M.D. [4]; Assistant Editor(s)-In-Chief: Kristin Feeney, B.S. [5]

Overview

Patients with transposition of the great vessels should be differentiated from other cardiac and non-cardiac causes of cyanosis.

Differentiating Transposition of the great vessels from other Diseases

Patients with transposition of the great vessels should be differentiated from other cardiac and non-cardiac causes of cyanosis-

Cardiac causes (starts with 't')-

• Tetralogy of Fallot
• Truncus arteriosus
• Total anomalous pulmonary venous connection
• Tricuspid valve abnormalities

Other less common causes are- pulmonary atresia, hypoplastic left heart syndrome, anomalous systemic venous connection.

Non-cardiac causes

• Pulmonary diseases - Structural abnormalities of the lung, V/P (ventilation-perfusion mismatch), airway obstruction, pneumothorax, and hypoventilation.
• Abnormal hemoglobin like methemoglobin, polycythemia
• Peripheral cyanosis for e.g. sepsis, hypoglycemia, dehydration, and hypoadrenalism.

Transposition of the great arteries should be differentiated from other cyanotic congenital heart diseases found in the pediatrics population. These disorders described in the table below:

Disorders	Etiology	Clinical Presentation	Laboratory Findings	Electrocardiogram Findings	Echocardiography Findings	X-Ray Findings
Tetralogy of Fallot	Multifactorial Genetic polymorphisms Maternal rubella Poor prenatal nutrition Maternal alcohol use Maternal diabetes	Cyanosis on exertion Exertional dyspnea Palpitations Fatigue	CBC: Anemia or polycythemia. Coagulation profile. Arterial blood gas: Low oxygen saturation and acidosis	Right ventricular hypertrophy Right bundle branch block Tachycardia Rate of QRS change predicts ventricular arrhythmia	Echocardiography may show: Residual VSD or ASD RV outflow tract obstruction Abnormal valvular anatomy	The boot-shaped heart appearance Normal heart size Pulmonary vascular marking may be normal or decreased
Total Anomalous Pulmonary Venous Connection	Multifactorial Genetic polymorphisms Maternal rubella Poor prenatal nutrition Maternal alcohol use Maternal diabetes	Tachypnea Palpitations Cyanosis Failure to thrive	Arterial blood gas: Low oxygen saturation and acidosis Coagulation profile.	Right ventricular hypertrophy with a qR pattern	Right ventricular hypertrophy Right ventricular loading Paradoxical septal motion	Prominence of the pulmonary arteries Mild enlargement of heart The classic snowman sign is seen in supracardiac subtype
Tricuspid Atresia	Multifactorial Genetic polymorphisms Maternal rubella Poor prenatal nutrition Maternal alcohol use Maternal diabetes	Respiratory difficulties as nasal flaring or muscle retractions Cyanosis Growth retradation	Arterial blood gases CBC: Polycythemia Coagulation profile	Tall P waves indicate atrial enlargement. First-degree atrioventricular block. Frontal plane QRS axis may be leftward.	Echocardiography may show Defect size Pulmonary blood flow Ventricular function Valve abnormalities	Smooth convexity of right heart border is absent Lower part of right heart border is limited to the spine Prominency of the pulmonary artery depends on their blood flow Cardiac size may be normal or enlarged
Transposition of the Great Arteries	Multifactorial Genetic polymorphisms Poor prenatal nutrition Maternal alcohol use Maternal diabetes	Prominent cyanosis within hours of birth Congestive heart failure	Arterial blood gases: Hypoxemia Hyperoxia test	Right ventricular hypertrophy Right axis deviation Varying degrees of AV block Q waves	Echocardiography may show: Relationship between great vessels Associated anatomic lesions Coronary artery origin and branches	The classic egg on string appearance Pulmonary vascular marking may be normal or increased