TABLE 2.

Articles Reporting Sensitivity and Specificity for Screening ECG and/or ECHO to detect HCM and LQTS

Disorder & Screening Test	Author (year)	Sample	Location	Age, y	Screening Test Criteria	Definition of Reference (“Gold”) Standard	Verification Bias	Sample Size
HCM, n=11
ECG, n=10	Autore (1988)32	First-degree relatives of patients with HCM	Italy	Mean=36 SD=20	LV hypertrophy; abnormal Q waves; negative T waves; atrial fibrillation; left or right bundle branch block	ECHO	No	72
	Charron (1997)33	Genotyped probands and first-degree relatives	France	Range: 18–29	Q waves; LV hypertrophy, repolarization alterations; isolated left atrial enlargement; short PR interval; microvoltage; minor Q waves; bundle-branch block or hemiblock	Genotyping	No	58
	Charron (1998)34	Children of HCM genotyped families	France	<18	Q waves; voltage; repolarization alterations; abnormal PR interval, left and/or right atrial enlargement; atrial fibrillation; abnormal QRS axis; increased QRS duration; increased ventricular activation time; T waves; R/S ratio, rSr’ aspect; bundle branch block or hemiblock; microvoltage	Genotyping	No	35
	Charron (2003)35	Genotyped probands and first-degree relatives	France	Mean=37.7 SD=17.9	abnormal Q waves; T-wave inversion; LV hypertrophy	Genotyping	No	109
	Dipchand (1999)36	Children with HCM and healthy controls	Canada	Median=3, Range: 0–19	Q waves; R waves; S waves; T waves; QTc interval; voltage	ECHO, LV angiography	Yes	73
	Fragola (1993)37	First-degree relatives of patients with HCM	Italy	Mean=34 SD=19	LV and RV hypertrophy; atrial enlargement; rhythm disturbances; atrioventricular and intraventricular conduction; ST-T displacement; Q waves; R waves; QRS	ECHO	No	116
	Konno (2004)38	Genotyped relatives of patients with HCM	Japan	<30	Q wave; LV hypertrophy; ST-segment depression; T-wave inversion	Genotyping	No	45
	Nistri (2003)28	Screening of military recruits (males only)	Italy	≥17	LV wall thickness; Q waves; ST-T waves	ECHO	No	2770
	Potter (2010)39	Patients with HCM and healthy controls	UK, Sweden, US	Mean=48.7 SD=14.0	RR, PR, P-wave, QRS and QT and JT intervals; P, QRS, and T-wave amplitudes; frontal plane QRS and T-wave axes; and ST-segment levels	ECHO	Yes	181
	Ryan (1995)40	Probands and relatives	UK, Poland	Mean=47 SD=19	R waves; S waves; Q waves; ST-T waves	Genotyping or clinical diagnosis	No	506
ECHO, n=6	Charron (1997)33	Genotyped probands and first-degree relatives	France	Range: 18–29	MWT	Genotyping	No	58
	Charron (1998)34	Children of HCM genotyped families	France	<18	MWT; intraventricular septum/posterior wall; left atrium diameter; systolic anterior motion of mitral valve; mid-systolic aortic closure; gradient >30 mmHg; mitral valve regurgitation; E/A wave ratio	Genotyping	No	35
	Charron (2003)35	Genotyped probands and first-degree relatives	France	Mean=37.7 SD=17.9	MWT in anterior septum or posterior wall; MWT in posterior septum or free wall; systolic anterior motion of the mitral valve, redundant leaflets	Genotyping	No	109
	Fragola (1993)37	First-degree relatives of patients with HCM	Italy	Mean=34 SD=19	Increased interventricular septal thickness; posterior wall thickness	ECHO	No	122
	Ho (2002)41	Genotyped relatives of patients with HCM and healthy controls	USA	Mean=35.6 SD=12.6	LV ejection fraction; early diastolic myocardial velocities	Genotyping	No	72
	Ryan (1995)40	Probands and relatives	UK, Poland	Mean=47 SD=19	LV wall thickness	Genotyping or clinical diagnosis	No	506
ECG/ECHO, n=4	Charron (1997)33	Genotyped probands and first-degree relatives	France	Range: 18–29	See above Charron 1997 ECG and ECHO criteria	Genotyping	No	58
	Charron (1998)34	Children of HCM genotyped families	France	<18	See above Charron 1998 ECG and ECHO criteria	Genotyping	No	35
	Charron (2003)35	Genotyped probands and first-degree relatives	France	Mean=37.7 SD=17.9	See above Charron 2003 ECG and ECHO criteria	Genotyping	No	109
	Ryan (1995)40	Probands and relatives	UK, Poland	Mean=47 SD=19	See above Ryan 1995 ECG and ECHO criteria	Genotyping or clinical diagnosis	No	506
LQTS, n=9
ECG, n=9	Benhorin (1990)42	Participants in the International LQTS Registry and healthy controls	USA, Italy	Range: 17–60	ST segment; repolarization area; T wave area symmetry	ECG: QTc > 440 ms	Yes	352
	Kaufman (2001)43	Genotyped relatives of patients with LQTS	USA	≤13	QTc	Genotyping	No	38
	Miller (2001)44	Genotyped proband and first-degree relatives	USA	Range: 2–85	QTc	Genotyping	No	23
	Moennig (2001)45	Genotyped probands and relatives	Germany	Mean=38 Range: 31–50	QTc	Genotyping	No	116
	Neyroud (1998)46	Genotyped patients with LQTS and matched controls	France	Mean=31 SD=17	QTc	Genotyping	Yes	50
	Swan (1998)47	Genotyped probands and relatives	Finland	Range: 7–72	QTc	Genotyping	No	73
	Vincent (1992)48	Genotyped probands and relatives	Not specified	Range: 1.5–39.0	QTc	Genotyping	No	198
	Viskin (2010)49	Patients with LQTS and healthy controls	Not specified	Mean=32 SD=15	QTc	LQTS registry or genotyping	Yes	150
	Wong (2010)50	Genotyped probands and relatives	UK	Mean=26 SD=31	QTc	Genotyping	No	159

ECG/ECHO, ECG combined with ECHO; LV, left ventricular; MWT, maximal wall thickness; QTc, corrected QT interval; RV, right ventricular.