Ventricular septal defect differential diagnosis

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Differentiating Ventricular Septal Defect from other Diseases

Epidemiology and Demographics

Risk Factors

Natural History, Complications and Prognosis


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Cardiac Catheterization


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Ventricular septal defect post-surgical prognosis

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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

Disease Signs and Symptoms Association Diagnostic modality Management Prognosis
  • 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[3]
  • 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


  • 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[4][5][6][7]
  • 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)[8] 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.
  • Preterm birth
  • Congenital rubella syndrome
  • Chromosomal abnormalities ( Down syndrome)
  • Genetic conditions such as Loeys–Dietz syndrome
  • Wiedemann–Steiner syndrome
  • CHARGE syndrome
  • 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[9][10][11][12]
  • 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


  1. LAMBERT EC, KELSCH JV, VLAD P (1963). "Differential diagnosis of ventricular septal defect in infancy: a common problem". Am J Cardiol. 11: 447–51. doi:10.1016/0002-9149(63)90003-1. PMID 13928242.
  2. Cleves MA, Hobbs CA, Cleves PA, Tilford JM, Bird TM, Robbins JM (2007) Congenital defects among liveborn infants with Down syndrome. Birth Defects Res A Clin Mol Teratol 79 (9):657-63. DOI:10.1002/bdra.20393 PMID: 17696161
  3. Craig B (2006). "Atrioventricular septal defect: from fetus to adult". Heart. 92 (12): 1879–85. doi:10.1136/hrt.2006.093344. PMC 1861295. PMID 17105897.
  4. El-Segaier M, Pesonen E, Lukkarinen S, Peters K, Ingemansson J, Sörnmo L; et al. (2006). "Atrial septal defect: a diagnostic approach". Med Biol Eng Comput. 44 (9): 739–45. doi:10.1007/s11517-006-0094-5. PMID 16941100.
  5. Yoshihara K, Ozawa T, Sakuragawa H, Fujii T, Kawasaki M, Shiono N; et al. (1999). "[Noonan syndrome associated with atrial septal defect, pulmonary stenosis, and completely unroofed coronary sinus without LSVC: a case report]". Kyobu Geka. 52 (2): 134–7. PMID 10036874.
  6. Geva T, Martins JD, Wald RM (2014). "Atrial septal defects". Lancet. 383 (9932): 1921–32. doi:10.1016/S0140-6736(13)62145-5. PMID 24725467.
  7. Goldberg JF (2015). "Long-term Follow-up of "Simple" Lesions--Atrial Septal Defect, Ventricular Septal Defect, and Coarctation of the Aorta". Congenit Heart Dis. 10 (5): 466–74. doi:10.1111/chd.12298. PMID 26365715.
  8. Schneider DJ, Moore JW (2006). "Patent ductus arteriosus". Circulation. 114 (17): 1873–82. doi:10.1161/CIRCULATIONAHA.105.592063. PMID 17060397.
  9. Shyu KG, Tseng CD, Chiu IS, Hung CR, Chu SH, Lue HC; et al. (1993). "Infundibular pulmonic stenosis with intact ventricular septum: a report of 15 surgically corrected patients". Int J Cardiol. 41 (2): 115–21. doi:10.1016/0167-5273(93)90150-f. PMID 8282434.
  10. Zaret BL, Conti CR (1973). "Infundibular pulmonic stenosis with intact ventricular septum in the adult". Johns Hopkins Med J. 132 (1): 50–60. PMID 4682663.
  11. Mullins CE, Ludomirsky A, O'Laughlin MP, Vick GW, Murphy DJ, Huhta JC; et al. (1988). "Balloon valvuloplasty for pulmonic valve stenosis--two-year follow-up: hemodynamic and Doppler evaluation". Cathet Cardiovasc Diagn. 14 (2): 76–81. doi:10.1002/ccd.1810140203. PMID 3365764.
  12. Park SJ, Lee CW, Hong MK, Song JK, Park SW, Kim JJ (1997). "Transcoronary alcohol ablation of infundibular hypertrophy in patients with idiopathic infundibular pulmonic stenosis". Am J Cardiol. 80 (11): 1514–6. doi:10.1016/s0002-9149(97)00724-8. PMID 9399740.