Ventricular septal defect differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1], Leida Perez, M.D. Associate Editor(s)-In-Chief: Keri Shafer, M.D. [2], Priyamvada Singh, MBBS

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Differentiating Ventricular Septal Defect from other Disorders

• Alcohol use of the mother
• Chemotherapeutics
• Down's Syndrome
• Ellis-van Creveld Syndrome
• Genetic disorders
• Hypoxia (Lack of oxygen)
• Immunosuppressives
• Marfan's Syndrome
• Noonan Syndrome
• Radiation
• Retinoic acid
• Rubella
• Thalidomide
• Trisomy 13
• Turner's Syndrome

• Differential diagnosis of Ventricular septal defect

Disease	Signs and Symptoms	Association	Lab finding	Diagnostic modality	Management	Prognosis
VSD	Shortness of breath Tachypnea Palpitation Paleness Failure to gain weight Sweating while feeding Frequent respiratory infections Fainting Chest pain Cyanosis	Down syndrome fetal alcohol syndrome trisomy syndromes fetal hydantoin syndrome postrubella infection (German measles) maternal phenylketonuria (PKU)		Echocardiogram Electrocardiogram (ECG) Chest X-ray Cardiac catheterization Pulse oximetry	Small VSD: Observe, symptomatic treatment until spontaneous closure. Surgical repair: During first year of life Immediately if severe symptoms present Small VSD to prevent complications related to their locations, such as heart valves damage Nutritional support or tubal feeding if VSD causing tiredness of the infant during feeding Surgical repair Catheter procedure Hybrid procedure (surgical and catheter-based techniques)	Small VSD usually closes spontaneously by 18 months. Up to 75% are closed by the age of 10. Medium to large VSDs often become smaller but remain patent and allow shunting of blood and eventual development of Eisenmenger’s syndrome and heart failure. If large defects are not corrected before pulmonary hypertension develops the prognosis is poor. Patients with the Eisenmenger’s syndrome have an average life expectancy of 33 years. Surgical correction provide a better outcome.
Atrioventricular septal defect	cyanosis mild or absent congestive cardiac failure right ventricular impulse increased pulmonic component second heart sound variable ejection systolic murmur, apical mid‐diastolic murmur (in large left to right shunt), pansystolic murmur (with atrioventricular valve regurgitation)	Subaortic stenosis Ventricular hypoplasia Tetralogy of Fallot Atrial isomerism		Antenatal ultrasound anomaly scanning (four‐chamber view) Postnatal diagnosis: ECG Chest radiograph Echocardiogram Magnetic resonance imaging Angiography	Medical treatment CHF: diuretics and vasodilator such as captopril digoxin (controversial) feeding difficulties and failure to thrive nasogastric tube to	Without surgery the natural history of complete AVSD, only 4% survival beyond 5 years old
Atrial septal defect
Patent Ductus Arteriosus (PDA)
Infundibular Pulmonary Stenosis