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. Author manuscript; available in PMC: 2020 Jul 23.
Published in final edited form as: J Am Coll Cardiol. 2019 Jul 23;74(3):346–358. doi: 10.1016/j.jacc.2019.05.022

TABLE 3.

Families With Affected Children and Unaffected, Asymptomatic Parents With Concordant Genetic Findings

Family Proband Age, yrs (Sex) ACM Subtype Clinical Features Parental Age, yrs (Sex) Genetic Variants
G 14(F) ARVC Sustained ventricular tachycardia; myocardial inflammation on biopsy 52 (F) PKP2 c.2189+1G>A
DSC2 Ile343del
J 11 (F) ARVC Cardiac arrest 51 (F) PKP2 R413X
DSC2 Y332X
L 14 (M) ARVC Syncope 41 (M) PKP2 R413X
O 12 (F) Left dominant Features of myocardial inflammation, NSVT and decreased LV function 40 (F) DSP V1176fsX20
DSG2 T355A
Z 14 (M) Biventricular Cardiac failure and transplantation 45 (F) DSG2 c.631–2A>G
X 16 (M) Biventricular Cardiac failure and transplantation 52 (F) PKP2 c.1034+1 G>T

DSG2 = desmoglein-2; F = female; LV = left ventricular; M = male; NSVT = nonsustained ventricular tachycardia; other abbreviations as in Table 1.