Table 1.

Clinical characteristics of 30 TTN c.59926 + 1G > A mutation carriers and 17 mutation negative family members

	TTN c.59926 + 1G > A +		TTN c.59926 + 1G > A –
	DCM (n = 20)	No DCM (n = 10)	No DCM (n = 17)
Age at diagnosis/evaluation, years	49 ± 14	47 ± 19	49 ± 10
Proband	11 (55%)	0 (0%)	0 (0%)
Male	14 (70%)	1 (10%)	13 (62%)
LVEFa, %	26 ± 11	53 ± 3*	57 ± 4*
LVEDDa, mm	63 ± 7	51 ± 6†	50 ± 4†
Atrial tachyarrhythmias	13 (65%)	3 (30%)	0 (0%)‡
(Paroxysmal) atrial fibrillation/flutter	12 (60%)	3 (30%)	NA
Ventricular arrhythmias	9 (45%)	1 (10%)	0 (0%)
Non‐sustained ventricular tachycardia	5 (25%)	1 (10%)	NA
Ventricular tachycardia/fibrillation	4 (20%)	0 (0%)	NA
Out‐of‐hospital cardiac arrest	2 (10%)	0 (0%)	0 (0%)
ICD implantation	9 (45%)	0 (0%)	0 (0%)
Appropriate ICD therapy	4 (20%)	NA	NA
Risk factors	11 (55%)	6 (60%)	3 (18%)
Hypertension	7 (35%)	2 (20%)	2 (12%)
Diabetes mellitus	2 (10%)	0 (0%)	0 (0%)
Dyslipidaemia	3 (15%)	0 (0%)	2 (12%)
Coronary artery disease	2 (10%)	1 (10%)	0 (0%)
Obesity	1 (5%)	2 (10%)	1 (6%)
Otherb	3 (15%)	1 (10%)	0 (0%)

DCM, dilated cardiomyopathy; ICD, implantable cardioverter‐defibrillator; LVEDD, left ventricular end‐diastolic dimension; LVEF, left ventricular ejection fraction; NA, not applicable; TTN, titin.

^aMeasurements are based on the lowest measured ejection fraction and the largest end‐diastolic diameter.

^bComposition of chemotherapy, history of excess alcohol consumption, and severe mitral valve insufficiency.

^*LVEF is available from five carriers and six non‐carriers. In four carriers, left ventricular function is described as normal, of which one is described as >55%. In another carrier left ventricular function is described as moderate (45–55%). In the other 11 non‐carriers left ventricular function is described as normal.

^†LVEDD is missing from one carrier and available from 13 non‐carriers; in the other four non‐carriers, LVEDD is described as normal.

^‡Holter monitoring only performed in three non‐carriers.