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editorial
. 2022 May 28;21:100146. doi: 10.1016/j.ahjo.2022.100146

Table 1.

Genetic test yield and utility in cardiology. The genes listed are genes commonly associated with the conditions but are not an exhaustive list in most cases.

Condition
(Commonly associated genes)		 Diagnostic yield among pediatric cases Utility of a positive genetic test result
Channelopathies
(KCNQ1, KCNH2, SCN5A, RYR2)		 ~30%–75%
  • -

    Diagnostic confirmation

  • -

    Arrhythmia risk stratification and prediction of triggers

  • -

    Optimization of pharmaceutical treatment

  • -

    Cascade screening
Cardiomyopathies
(MYH7, MYBPC3, TNNT2, TNNI2, TNNI3, ACTC1, ACTN2, DMD, TTN, LMNA, DSP, PKP2, DSG2, FLNC, RBM20, SCN5A)		 ~10–70%
  • -

    Diagnostic confirmation, including identification of syndromic forms of cardiomyopathy

  • -

    Arrhythmia risk stratification

  • -

    Indication for exercise avoidance

  • -

    Cascade screening
Familial hypercholesterolemia
(LDLR, APOB, PCSK9, LDLRAP1)		 ~80–95%
  • -

    Diagnostic confirmation

  • -

    Coronary artery disease risk stratification

  • -

    Cascade screening
Aortopathies
(FBN1, COL3A1, TGFBR1, TGFBR2)		 ~20–80%
  • -

    Diagnostic confirmation, including identification of syndromic forms of aortopathies

  • -

    Aortic dissection risk stratification

  • -

    Cascade screening

Created by Emily Brown, CGC based on Landstrom AP, et al. and Brown EE, et al.