Clinical and molecular genetic risk determinants in adult long QT syndrome type 1 and 2 patients

Koponen, Mikael; Havulinna, Aki S.; Marjamaa, Annukka; Tuiskula, Annukka M.; Salomaa, Veikko; Laitinen-Forsblom, Päivi J.; Piippo, Kirsi; Toivonen, Lauri; Kontula, Kimmo; Viitasalo, Matti; Swan, Heikki

doi:10.1186/s12881-018-0574-0

BMC Medical Genetics

Table 5 SCD, ACA and ICD shock cases

From: Clinical and molecular genetic risk determinants in adult long QT syndrome type 1 and 2 patients

Case	Mutation	Age at event	β-blocker	Trigger or predisposing factor	LQTS dg before event	Device implantation^a	CE before SCD, ACA or ICD shock^b
SCD
1	KCNQ1 G589D	35.8	No (non-compliance)	Unwitnessed	Yes	No	No
2	KCNQ1 G589D	35.0	Yes	Unwitnessed, citalopram, ethanol	Yes	No	Syncope (no BB)
3	KCNQ1 c.1032G > A	32.0	Yes	Physical exertion, citalopram, ethanol	Yes	No	Syncope (no BB)
4	KCNQ1 G589D	31.3	Yes	Awakening, thioridazine	Yes	No	Syncope (no BB)
5	KCNH2 Y569H	25.5	No (non-compliance)	Awakening, tizanidine, amphetamine	Yes	No	No
6	KCNH2 c.842dupG	24.4	Yes	Alarm clock	Yes	No	Syncope (no BB)
7	KCNH2 A558E	21.8	No	Awakening	No	No	Syncope (no BB)
ACA^c
8	KCNH2 c.643delG	38.8	No	No trigger	No	ICD (39.0)	No
9	KCNQ1 G589D	34.5	No	Terfenadine, ketoconazole	No	No	Syncope (no BB)
10	KCNH2 P451L	31.5	No	Excitement	No	PM (31.6)	No
11	KCNQ1 R518Ter	25.5	No	Rest	No	No	No
12^d	KCNH2 L552S	23.6	No	Awakening, amiodarone	No	ICD (23.6)	Syncope (no BB)
13	KCNH2 c.1558-1G > C	23.5	No	Rest	No	ICD (23.5)	Syncope (no BB)
14	KCNQ1 G589D	21.0	No	Sport	No	ICD (21.0)	No
15	KCNQ1 G589D	20.5	No	Post partum period, hypokalemia	No	ICD (20.5)	No
ICD shock
16	KCNQ1 D317N	31.1	Yes	Excitement	Yes	ICD (17.2)	Syncope (BB)
17	KCNQ1 G589D	28.3	Yes	Excitement	Yes	ICD (26.9)	Syncope (no BB)
12^d	KCNH2 L552S	25.6	Yes	NA	Yes	ICD (23.6)	ACA (no BB)
18	KCNH2 W497Ter	24.0	No (non-compliance)	Mirtazapine	Yes	ICD (16.0)	Syncope (BB)
19	KCNH2 A561V	21.4	Yes	Rest	Yes	ICD (13.1)	ACA (BB),^e ICD shock (BB)^e
20^f	KCNH2 L552S KCNH2 L552S	20.2	No (non-compliance)	Pneumonia, disturbance of diabetes treatment	Yes	ICD (15.6)	Syncope (BB), ICD shock (BB)^e
21	KCNH2 L552S	19.9	Yes	Rest	Yes	ICD (18.9)	Syncope (BB)

^aThe age of ICD or pacemaker implantation in parenthesis
^bSyncope was triggered by swimming, sport, loud noise or startle. “BB” and “no BB” denote patient was and was not, respectively, using β-blocker at the time of the cardiac event
^cA resuscitation that required external defibrillation
^dCase 12 suffered both ACA and ICD shock
^eACA or ICD shock before the age of 18 years
^fHomozygous mutation carrier
CE: cardiac event, dg: diagnosis, NA: not available, PM: pacemaker, other abbreviations as in Table 1

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ISSN: 1471-2350

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