Natural history and familial characteristics of isolated left ventricular non-compaction

Eur Heart J. 2005 Jan;26(2):187-92. doi: 10.1093/eurheartj/ehi025. Epub 2004 Nov 30.


Aims: 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.

Methods and 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.

Conclusion: 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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Aged, 80 and over
  • Cardiomyopathy, Dilated / drug therapy
  • Cardiomyopathy, Dilated / genetics*
  • Cardiomyopathy, Dilated / physiopathology
  • Cohort Studies
  • Echocardiography
  • Echocardiography, Transesophageal
  • Exercise Test
  • Female
  • Genetic Testing
  • Humans
  • Hypertrophy, Left Ventricular / drug therapy
  • Hypertrophy, Left Ventricular / genetics*
  • Hypertrophy, Left Ventricular / physiopathology
  • Male
  • Middle Aged
  • Pedigree
  • Prognosis
  • Risk Factors
  • Ventricular Dysfunction, Left / drug therapy
  • Ventricular Dysfunction, Left / genetics*
  • Ventricular Dysfunction, Left / physiopathology