Congenital heart disease differential diagnosis

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1];Associate Editor-In-Chief: Priyamvada Singh, MBBS [2] Keri Shafer, M.D. [3], Atif Mohammad, M.D.; Assistant Editor-In-Chief: Kristin Feeney, B.S. [4]


During diagnostic evaluation, it is important to recognize that signs and symptoms of congenital heart disease can be similar to other conditions. Differentiation must be made between other genetic disorders such as trisomy 13, turner's syndrome, down's syndrome, noonan syndrome, ellis-van creveld syndrome and marfan's syndrome.[1]

Differential Diagnosis

Several conditions, produce signs and symptoms that are similar to those produced by congenital heart disease. These include:


  1. Epstein AE, DiMarco JP, Ellenbogen KA, Estes NAM III, Freedman RA, Gettes LS, Gillinov AM, Gregoratos G, Hammill SC, Hayes DL, Hlatky MA, Newby LK, Page RL, Schoenfeld MH, Silka MJ, Stevenson LW, Sweeney MO. ACC/AHA/HRS 2008 guidelines for device-based therapy of cardiac rhythm abnormalities: executive summary: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Revise the ACC/AHA/NASPE 2002 Guideline Update for Implantation of Cardiac Pacemakers and Antiarrhythmia Devices). Circulation. 2008; 117: 2820–2840. PMID 18483207

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