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. 2013 Jul 25;8(7):e69614. doi: 10.1371/journal.pone.0069614

Table 4. Long QT mutation carriers’ descriptives.

Mutation KCNH24 KCNH21 KCNH21 KCNH21 KCNH21 SCN5A2 SCN5A3 KCNH21
KCNE25
De novo/inherited Mater ? Pater ? ? Pater Mater ?
Karyotype 45,X 45,X 45,X 45,X/46,X,i(Xq) 45,X,inv(9) 45,X 45,X/ 45,X
47,X,i(Xq),i(Xq) (p11q11) 46,X,idic(X)
Bazett's QTc [ms]* 468.7 465.2 464.8 458.3 453.5 453.4 443.4 432.0
Hodges's QTc [ms]* 444.3 433.9 435.8 434.6 427.6 452.6 424.8 415.6
Heart rate [bmp] 68 90 134 71 79 62 65 79
Bicuspid aortic valve Yes No No No No Yes No Yes
Coarctatio No No Yes No No Yes No No
Hypothyroidisme No Eltroxin Eltroxin No No Eltroxin No No
Ischemic heart disease No No No No No No No No
Diabetes mellitus No No No Yes No No No No
Hypertension No Yes Yes Yes No Yes No Yes
Antihypertensive drugs No Yes Yes Yes Yes Yes Yes No
Age [years] 26 56 43 42 32 41 38 38
HRT during entire study No Yes Yes Yes Yes Yes Yes Yes
BMI >30 No Yes Yes Yes No Yes Yes No
Treatment for LQTS No No ? β-blocker β-blocker No ? β-blocker
*

ECGs with the longest QTc-interval.

1

KCNH2 c.3140G>T heterozygous p.Arg1047Leu. Uncertain pathogenic, known mutation.

2

SCN5A c.6010T>C heterozygous p.Phe2004Leu. Uncertain pathogenic, known mutation.

3

SCN5A c.5872C>T heterozygous p.Arg1958X. Definitely pathogenic, Stop codon mutation.

4

KCNH2 c.2738C>T heterozygous p.Ala913Val. Definitely pathogenic.

5

KCNE2 c.161T>C heterozygous p.Met54Thr. Likely pathogenic.

A question mark indicates that no information was available. ms = milliseconds, bpm = beats per minute. HRT = Hormone replacement therapy.

The in silico analysis was perfomed by the use of Alamut software (Interactive Biosoftware, ver 2.1, Mont-Saint-Aignan, France, http://www.interactive-biosoftware.com/) taking into account results from Polyphen-2, SIFT, Grantham score, and the nucleotide and aminoacid conservation.