Ventricular septal defect differential diagnosis

Ventricular septal defect Microchapters
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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

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	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 ventricular septal defects in association with other malformation syndromes: fetal alcohol syndrome trisomy syndromes fetal hydantoin syndrome postrubella infection (German measles) maternal phenylketonuria (PKU) Tetralogy of Fallot Holt-Oram Syndrome FG Syndrome Genitopalatocardiac Syndrome Fryns Syndrome certain forms of Dandy-Walker Syndrome Cardiomyopathy-Hypogonadism-Collagenoma Syndrome Familial Idiopathic Cardiomyopathy Simpson Dysmorphia Syndrome Fetal Alcohol Syndrome DiGeorge Syndrome various Trisomy Syndromes maternal alcoholism maternal ingestion of phenylhydantoin postrubella infection maternal Phenylketonuria	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	Asymptomatic Soft, systolic ejection murmur over the pulmonic area (second intercostal space) combined with a wide, fixed splitting of S2 Large defects: Exercise intolerance Cardiac dysrhythmias Palpitations Increased incidence of pneumonia, pulmonary hypertension and increased mortality	Down syndrome Noonan syndrome Ellis van-Creveld syndrome Opitz syndrome Costello syndrome, Chondroectodermal dysplasia Rubella Holt-Oram syndrome Hurler syndrome	Echocardiogram Chest X-ray Electrocardiogram Cardiac catheterization MRI CT scan	Medical monitoring echocardiograms and annual exam to check for complications, such as pulmonary hypertension, arrhythmias, heart failure or valve problems Medications Surgery Follow-up care	The surgical mortality rate increases with increasing age and pulmonary artery pressures. Patients < 45 years without heart failure and with systolic pulmonary artery pressures less than 60 mm Hg have a mortality rate of surgical repair < 1%
Patent Ductus Arteriosus (PDA)	In adults is usually a coincidental finding during physical examination or echocardiography screening. Atypical continuous murmur which can be heard at the higher left sternal edge. May be associated with a wide pulse pressure due to the runoff to the pulmonary circulation.		Chest Radiograph Electrocardiogram Echocardiogram Magnetic Resonance Imaging and Computed Tomography Cardiac Catheterization	Transcatheter Closure Surgical Therapy	Prognosis depends on the size and magnitude of the shunt and the status of the pulmonary vasculature Small PDA has normal prognosis Large PDA with significant left heart volume overload: Congestive Heart Failure Hypertensive Pulmonary Vascular Disease Endarteritis Aneurysm of Ductus Arteriosus recurrent laryngeal nerve paralysis
Infundibular Pulmonary Stenosis	Asymptomatic, he hypertrophied right ventricle can maintain adequate flow across the obstruction even in severe stenosis Dyspnea Chest pain Palpitation on effort Epigastric pain (exercise-induced right ventricular failure and hepatic congestion) Presyncope or syncope on efforts (When the right ventricle fails to maintain adequate cardiac output) Sudden death (severe stenosis even when asymptomatic)	Other congenital heart defects, such as atrial septal defect (ASD), ventricular septal defect (VSD), and persistent ductus arteriosus. Combined valvular and infundibular PS can be part of tetralogy of Fallot (ToF). Noonan syndrome	Chest radiography Echo-Doppler ultrasonographic studies Transesophageal echocardiography Electrocardiography Procedures Cardiac catheterization Angiocardiography	Surgical resection of the fibromuscular when significant hemodynamic compromise. The optimal time of surgery should be before the development of RV failure. Percutaneous balloon valvuloplasty, it is only partially effective Transcoronary alcohol ablation technique	If right ventricular failure develops, right atrial pressure will increase, and this may result in systemic cyanosis. If pulmonary stenosis is severe, congestive heart failure occurs, and systemic venous engorgement will be noted.