Table 1.

Clinical, Demographic and Pathologic Findings in 7 Patients with LAMP2 Cardiomyopathy

	1	2	3	4	5	6	7
Age: cardiac diagnosis (y)	8	14	11	15	17	7	15
Age: last evaluation/death (y)Δ	12	23	22	21	24	20	23
Gender	M	M	F	M	M	M	M
Presentation	heart murmur (sports exam)	syncope	heart murmur	family history	abnormal ECG	chest pain	AF
NYHA functional class
Initial	I	I	I	I	I	I	I
Most recent	I	IV	I	III	IV	III	III
Paroxysmal AF/flutter	+	0	+	+ (x3)	+	+	+
Medical treatment	atenolol; verapamil; amiodarone; warfarin	sotalol; amiodarone; warfarin; spirono-lactone	Toprol	atenolol	spirono-lactone; toprol; lisinopril; digoxin; diuretics; warfarin	Sotaolol; atenolol; diurectics	atenolol; sotalol; warfarin; diuretics; amiodarone
Family history of cardiomyopathy	0	Brother: WPW/LVH Aunt: WPW	0	Mother: dilated CM/transplant	0	0	0
Electrocardiogram
WPW	+*	+	+	+	0	+	+*
Maximum voltage (mm)	145	80	75	55	10	55	56
PR interval (ms)	105	80	125	80	154	80	110
Other	T-inversion (11 mm); inferior Qs	T-inversion (30 mm); IVCD	T-inversion (25 mm)	T-inversion (22 mm)	LAD; absent R (V1–V3)	T-inversion (15 mm)	T-inversion (10 mm); LBBB
LV outflow gradient (rest); mm Hg	65	0 (mild SAM)	0	0	0	65	0
Maximum LV wall thickness (mm)	65†	60	30	37‡	35	52**	29
Ejection fraction (%)
Initial	70	nl	64	70	75	66	68
Most recent	36	25	35	20	22	15	23
LV cavity end- diastole (mm)
Initial	25	42	37	40	37	54	55
Most recent	43	70	53	60	49	n/a	68
Left atrium (mm) - - Initial	35	39	32	38	41	36	30
Mitral regurgitation	moderate	mild	Mild	mild	mild	0	0
24-Hour Ambulatory Holter ECG	633 PVBs; 8 couplets	n/a	3 PVBs; 1 couplet	Sinus bradycardia	NSVT	NSVT	127 PVBs; 1 couplet
ICD	+	+α	+	+ (&CRT)	+	+	+ (& CRT)
Complications	end-stage	end-stage; embolic stroke	end-stage	end-stage	end-stage; acute cardiac/renal failure; syncope	end-stage; pulmonary hypertension; ICD shock for VT	end-stage
Clinical status	sudden death (found dead in bed)	acute HF death	alive (ICD shock for VT [222 bpm]	acute HF death	sudden/HF death	progressive HF death; liver/multi-system failure; pneumonia	alive; transplant
Serum enzymes elevatedβ	+	+	0	+	+	+	0
Genetic transmission	Sporadic	Maternal	Sporadic	Maternal	Maternal	Sporadic	Sporadic
Mutation	Y109	IVS6+1_4 del GTGA	IVSG-2A→G	K289FS	IVS1+ 1G→T	IVS1-2A→G	V310I (mosaic)

Symbols:

^*radio frequency ablation of bypass tract at age 14 years in patient #1 and at age 15 in patient #7

^†anomalous anterolateral papillary muscle insertion into anterior mitral leaflet; marked LV wall thinning to 23 mm over clinical course

^‡LV wall thickness regression to 14 mm at time of death (by echocardiography)

^**predominant LV hypertrophy of posterior LV free wall (septum = 40 mm)

^βcreatine kinase and alanine aminotransferase levels elevated by factor of ≥2 and organ specific enzyme isoforms indicated cardiac, as well as musculoskeletal and liver, involvement

^αsecondary prevention ICD; all other patients with primary prevention implants

+ = present; 0=absent

Abbreviations:

AF = atrial fibrillation; CM = cardiomyopathy; CRT = cardiac resynchronization therapy; ECG = electrocardiogram; F = female; HF = heart failure; ICD = implantable cardioverter-defibrillator; IVCD = intraventricular conduction defect; LAD = left axis deviation; LBBB = left bundle branch block; LV = left ventricular; LVH = left ventricular hypertrophy; M = male; nl = normal; NSVT = nonsustained ventricular tachycardia; NYHA = New York Heart Association; PVB = premature ventricular beats; SAM = systolic anterior motion (of mitral valve); SCD = sudden cardiac death; VT = ventricular tachycardia; VF = ventricular fibrillation; WPW = Wolff-Parkinson-White (pre-excitation pattern); y = year

Selected data from these patients appear in a previous report describing their initial genetic identification (1,11).