Congenital heart disease diagnosis

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Congenital heart disease Microchapters


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Differentiating Congenital heart disease from other Disorders

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Natural History, Complications and Prognosis


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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]


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.

Diagnostic Criteria

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.

AHA Scientific Statement: Diagnosis and Management of Noncardiac Complications in Adults With Congenital Heart Disease

Advantages and Disadvantages of Imaging Modalities for Detection of Liver Disease and Screening for HCC in Patients With Congenital Heart Disease (CHD)

Advantages Disadvantages Additional Notes
Ultrasound Inexpensive

Widely available Highly sensitive for differentiating cystic and solid lesions

No ionising radiation

Low sensitivity for detecting focal, solid liver lesions, particularly in the setting of diffuse disease

Often unable to detect lesions <1 cm in size Low specs city High operator dependency

Use of contrast agents may improve characterization of hepatic tutors

Useful for guiding liver parenchymal and some focal mass biopsies

Elastography may overestimate degree of brosis and may not be useful for screening in CHD

CT Best spatial resolution (submillimeter resolution) Exposure to ionizing radiation dose

Low sensitivity for detecting and characterizing lesions <1 cm in size Contrast contraindicated in renal failure

Diffuse liver disease and fatty in ltration limit sensitivity for lesion detection

CT-guided liver mass biopsy useful in cases when ultrasound visualization is poor
MRI High lesion-to-liver contrast

High spatial resolution Better lesion detection and characterization than CT

No ionising radiation Unenhanced MRI superior to unenhanced CT

Contrast relatively contraindicated in renal failure (eGFR <30 mL·min−1·1.73 m−2)

High cost Long scan time

Need for longer breath-holds Less widely available Unable to be used with many pacemakers and de brillators

Hepatobiliary contrast media useful in characterizing speci c liver tutors
CHD indicates congenital heart disease; CT, computed tomography; eGFR, estimated glomerular ltration rate; HCC, hepatocellular carcinoma; and MRI, magnetic resonance imaging.


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