Eisenmenger’s syndrome differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Abdelrahman Ibrahim Abushouk, MD[2]

Differential Diagnosis of causes of Eisenmenger's Syndrome

Disorders	Etiology	Clinical Presentation	Laboratory Findings	Electrocardiogram	Echocardiography
Idiopathic Pulmonary Hypertension	Unknown, but possible reasons may include Connective tissue disease Liver cirrhosis Anorexic and alpha-adrenergic stimulants [cocaine/amphetamine] HIV infection	Dyspnea Recurrent syncope Fatigue Chest pain Cough Hemoptysis	+ve ANA assay +ve ANCA Anti-topoisomerase antibody Thyrotropin: screen thyroid disorders Elevated BNP & N-terminal BNP.	Right axis deviation Right ventricular hypertrophy ST depression T-wave inversion	Flattening of the intraventricular septum during systole & diastole Right ventricular hypertrophy Reduced right ventricular function Tricuspid regurgitation
Respiratory Failure	Respiratory: COPD, Pneumonia, Pulmonary embolism, Pulmonary hypertension Nervous: Guillain-Barré syndrome, muscular dystrophy, and myasthenia gravis Cardiac: Congenital heart diseases	Cyanosis Dyspnea Tachypnea Tachycardia Confusion Asterixis	Arterial blood gases (ABG) may detect hypoxemia, hypercapnea, and acidosis Pulmonary function tests	Electrocardiography may be used to evaluate the underlying cardiac causes of respiratory failure.	Echocardiography may be used to evaluate the underlying cardiac causes of respiratory failure. Left ventricular dilatation Regional wall motion abnormalities Mitral regurgitation
Pulmonary Infarction	Cardiac diseases Inherited coagulation disorders Sickle cell anemia Neoplasm Dehydration Surgery	Tachypnea Dyspnea Pleuritic chest pain Cough Hemoptysis Syncope Sweating	ABG: Hypoxemia, hypercapnea, and metabolic acidosis Elevated D-Dimer levels CBC: High WBCs Hypercoagulation panel	Sinus tachycardia T-wave inversion Right axis deviation Right bundle branch block P pulmonale	The main diagnostic studies are CT pulmonary angiography Ventilation/perfusion scanning. However, echocardiography may diagnose underlying cardiac conditions.
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
Ventricular Septal Defect	Multifactorial Genetic polymorphisms Poor prenatal nutrition Maternal alcohol use Maternal diabetes	Asymptomatic: small VSD Excessive sweating Fatigue during feeding Failure to thrive	High troponin I and amino-terminal procollagen type III peptide High BNP and pro-BNP levels	Moderate VSD: Left ventricular hypertrophy Large VSD: Right ventricular hypertrophy Biphasic P wave: Left atrial dilatation	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		Echocardiography may show: Relationship between great vessels Associated anatomic lesions Coronary artery origin and branches
Truncus arteriosus

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