Natural history and familial characteristics of isolated left ventricular non-compaction.
OBJECTIVE
Non-compaction of the left ventricle (LVNC) is a disorder of endomyocardial morphogenesis that results in multiple trabeculations in the left ventricular myocardium. The current literature suggests that LVNC in adults is rare and associated with a poor prognosis. Given that the disorder is present at birth and that several studies have reported asymptomatic familial disease in some patients, we hypothesized that there is a long pre-clinical phase of the disease. The aim of this study was to define the prognosis and familial incidence of LVNC.


RESULTS
This study cohort comprised 45 patients (mean age at diagnosis 37 years) consecutively identified at a referral centre for cardiomyopathy over a 10-year period. Twenty-eight patients (62%) had dyspnoea at presentation; 41 (91%) an abnormal ECG; and 30 (66%) left ventricular dilatation and impaired systolic function. Nine patients (20%) had non-sustained ventricular tachycardia on 24 h Holter monitoring. Mean survival from death or transplantation was 97% at 46 months. There were three thromboembolic events in two patients (4%). On systematic family screening, 8 of 32 (25%) asymptomatic relatives had a range of echocardiographic abnormalities, including LVNC, LVNC with impaired systolic function, and left ventricular enlargement without LVNC.


CONCLUSIONS
This study demonstrates that LVNC is associated with a better prognosis than previously reported. In patients with familial disease, relatives may have features consistent with dilated cardiomyopathy rather than LVNC.
Murphy
Ross T
RT
The Heart Hospital, University College London, 16-18 Westmoreland Street, London W1G 8PH, UK.
Thaman
Rajesh
R
Blanes
Juan Gimeno
JG
Ward
Deirdre
D
Sevdalis
Elias
E
Papra
Efi
E
Kiotsekoglou
Anatoli
A
Kiotsekolglou
Anatoli
A
Tome
Maria T
MT
Pellerin
Denis
D
McKenna
William J
WJ
Elliott
Perry M
PM
D000293:Adolescent; D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D002311:Cardiomyopathy, Dilated / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology; D015331:Cohort Studies; D004452:Echocardiography; D017548:Echocardiography, Transesophageal; D005080:Exercise Test; D005260:Female; D005820:Genetic Testing; D006801:Humans; D017379:Hypertrophy, Left Ventricular / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D011379:Prognosis; D012307:Risk Factors; D018487:Ventricular Dysfunction, Left / Q000188:drug therapy / Q000235:genetics* / Q000503:physiopathology