Health Dictionary Find a Doctor

Ventricular septal defect differential diagnosis

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

Overview

Differentiating Ventricular Septal Defect from other Disorders



Disease Signs and Symptoms Association Diagnostic modality Management Prognosis
VSD[2]
  • 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

              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[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

                                          References

                                          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.

                                          Template:WH

                                          Template:WS

                                          © 2026 MyEClinic – IFTM Institut für Telematik in der Medizin GmbH