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Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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Ventricular septal defect differential diagnosis

Introduction

Overview

Overview

Differentiating Ventricular Septal Defect from other Disorders

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

                                          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.

                                          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