Congenital heart disease 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]

Overview

Diagnosis of a congenital heart disease may occur at any time during a patient's life. The majority of diagnoses are made during childhood, however, some patients can go undetected until adulthood.

Diagnosis

Although the majority of congenital heart disease diagnoses are made in childhood, there are significant congenital heart defects which may be go undetected until adulthood. These typically include defects that do not cause cyanosis ("blueness") in childhood but may cause problems over time, such as certain kinds of valve problems, transposition disorders, holes in the heart, and abnormalities of the heart's major veins and arteries. Congenital heart defects are most commonly diagnosed through an echocardiogram - an ultrasound of the heart which shows the heart's structure. Cardiac magnetic resonance(MRI) are used to confirm CHD when signs or symptoms occur in the physical examination. An echocardiograph displays images of the might also be used to confirm the problem, particularly in complex defects in which anatomy is hard to determine with echocardiography. It also finds abnormal rhythms or defects of the heart present with CHD. A chest x-ray may also be issued to look at the anatomical position of the heart and lungs. A Cat Scan(CT) can also be used to visualize CHD. All of these tests are ways to diagnose CHD by a physician.

ACC/AHA 2008 guidelines for the management of adults with congenital heart disease.(DO NOT EDIT)[1]

Recommendations for Evaluation of the Unoperated Patient

Class I
"1. ASD should be diagnosed by imaging techniques with demonstration of shunting across the defect and evidence of RV volume overload and any associated anomalies. (Level of Evidence: C) "
"2. Patients with unexplained RV volume overload should be referred to an ACHD center for further diagnostic studies to rule out obscure ASD, partial anomalous venous connection, or coronary sinoseptal defect. (Level of Evidence: C)"
Class III (Harm)
"1. In younger patients with uncomplicated ASD for whom imaging results are adequate, diagnostic cardiac catheterization is not indicated. (Level of Evidence: B) "
"2. Maximal exercise testing is not recommended in ASD

with severe PAH. (Level of Evidence: B) "

Class IIa
"1. Maximal exercise testing can be useful to document exercise capacity in patients with symptoms that are discrepant with clinical findings or to document changes in oxygen saturation in patients with mild or moderate PAH. (Level of Evidence: C) "
"2. Cardiac catheterization can be useful to rule out concomitant coronary artery disease in patients at risk because of age or other factors. (Level of Evidence: B) "

References

  1. Warnes CA, Williams RG, Bashore TM, Child JS, Connolly HM, Dearani JA; et al. (2008). "ACC/AHA 2008 guidelines for the management of adults with congenital heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Develop Guidelines on the Management of Adults With Congenital Heart Disease). Developed in Collaboration With the American Society of Echocardiography, Heart Rhythm Society, International Society for Adult Congenital Heart Disease, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons". J Am Coll Cardiol. 52 (23): e1–121. doi:10.1016/j.jacc.2008.10.001. PMID 19038677.

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