Table 3 Aligning congenital heart disease phenotypes

From: Paternal-age-related de novo mutations and risk for five disorders

Class of congenital heart disease

ICD-10 codes

N PGCG probands

N cases in Danish registry with fathers 20–29

N cases in Danish registry with fathers >39

Single ventricle

Q20.4, Q22.6, Q23.4

511

45

12

TGA

Q20.3, Q20.5

294

75

32

Tetrology of Fallot

Q21.3

363

95

36

CTD not TGA

Q20.0, Q20.1, Q20.2, Q21.4

121

52

18

Heterotaxy

Q20.6

38

—

—

AVSD

Q21.2

50

107

32

RVO/LVO

Q22.0, Q22.1, Q22.2, Q22.3, Q23.0, Q23.1, Q23.8, Q23.9, Q24.4, Q25.3

416

211

67

Mv/TV

Q26.2, Q26.3

56

13

3

Abnormal chamber

Q20.8, Q20.9, Q21.8, Q21.9, Q24.2

8

44

11

VSD

Q21.0

119

873

220

Vascular anomaly

Q24.5, Q25.1, Q25.2, Q25.4, Q25.5, Q25.6, Q25.7, Q25.8, Q25.9, Q26.0, Q26.1, Q26.2, Q26.3, Q26.8, Q26.9

187

200

52

ASD

Q21.1

171

—

—

Other

None

14

—

—

  1. “Class of congenital heart disease” refers to broad classes corresponding to Fyler codes found within the PCGC probands. These are ranked in order of clinical presentation from most to least severe. ICD-10 codes representing corresponding presentations were used to query the Danish registry data for each class of CHD. Trio probands refer to the number of probands whose Fyler codes suggest that the CHD class is the most severe CHD in that person. Cases within the Danish registry refer to numbers of individuals who were given a corresponding ICD-10 code within one year of birth from each respective paternal age category. (See Supplementary Note 20 for an explanation as to why there are no cases listed under “heterotaxy”, “ASD”, or “other”). TGA transposition of the great arteries, CTD conotruncal defect, AVSD atrioventricular septal defect RVO/LVO ventricular outflow obstruction, MV/TV mitral or tricuspid valve anomaly, VSD ventricular septal defect, ASD atrial septal defect
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