Tetralogy of fallot differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editors-In-Chief: Priyamvada Singh, M.B.B.S. [2], Keri Shafer, M.D. [3]; Assistant Editor-In-Chief: Kristin Feeney, B.S. [4]

Overview

Tetralogy of Fallot is the most common form of cyanotic heart disease, and must be distinguished from other forms of cyanotic heart disease.

Differentiating Tetralogy of Fallot from other Diseases

• Total anomalous pulmonary venous connection
• Hypoplastic left heart syndrome (HLHS)
• Transposition of the great arteries (d-TGA)
• Truncus arteriosus (Persistent)
• Tricuspid atresia
• Interrupted aortic arch
• Coarctation of aorta
• Tricuspid atresia
• Pulmonary atresia (PA)
• Pulmonary stenosis (advanced)
• Pentalogy of Fallot
• Pediatric conditions that tetralogy of fallot must be distinguished from:
  • Aortic stenosis
  • Pediatric acute respiratory distress syndrome
  • Pediatric apnea
  • Pediatric bronchiolitis
  • Pediatric foreign body aspiration
  • Pediatric patent ductus arteriosus surgery
  • Pediatric pneumonia
  • Pneumothorax
  • Pulmonic valvular stenosis
  • Sickle cell anemia
  • Acute anemia
  • Asthma and reactive airway disease
  • Sepsis
  • Cardiogenic shock
  • Ebstein malformation of the tricuspid valve
  • Pseudotruncus arteriosus
  • Pulmonary atresia
  • Ventricular septal defect (VSD)

Disorders	Etiology	Clinical Presentation	Laboratory Findings	Electrocardiogram	Echocardiography
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
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
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
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

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