Review Article| Volume 24, P26-29, 2021

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Is There Any Clinical Utility to Genetic Testing for Patients With Congenital Heart Disease?

  • Richard W. Kim
    Address reprint requests to Richard W. Kim, MD, Pediatric and Congenital Cardiac Surgery, Surgical Director, Guerin Congenital Heart Program, Smidt Heart Institute, Cedars- Sinai Medical Center, 127 S. San Vicente Blvd, AHSP- Suite A3600, Los Angeles, CA 90048.
    Pediatric and Congenital Cardiac Surgery, Guerin Congenital Heart Program, Smidt Heart Institute, Cedars- Sinai Medical Center, Los Angeles, California
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      Genetic diagnosis is becoming increasingly sophisticated, with the ability to identify even fine differences in patients with a wide variety of congenital heart lesions. Although we have an incomplete understanding of the clinical consequences of most genetic findings, some categories of mutations can have important implications for disease recurrence and prognosis. Consideration of the biology underlying a genetic deficiency, when known, can be useful in the clinical management of some patients.


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