Author + information
- Received March 2, 2016
- Revision received March 21, 2016
- Accepted March 24, 2016
- Published online June 5, 2017.
- Nay Aung, MD,
- Filip Zemrak, MD,
- Saidi A. Mohiddin, MBChB, MD and
- Steffen E. Petersen, MD, DPhil, MPH∗ ()
- Barts Heart Centre, William Harvey Research Institute, NIHR Cardiovascular Biomedical Research Unit at Barts, Queen Mary University of London, London, United Kingdom
- ↵∗Address for correspondence:
Dr. Steffen E. Petersen, Barts Heart Centre, William Harvey Research Institute, NIHR Cardiovascular Biomedical Research Unit at Barts, Charterhouse Square, London, EC1M 6BQ, United Kingdom.
Left ventricular noncompaction (LVNC) is characterized by the presence of an extensive noncompacted myocardial layer lining the cavity of the left ventricle (LV) and potentially leads to cardiac failure, thromboembolism, and malignant arrhythmias (1). LVNC is a heterogeneous clinical condition, which often shows an overlap with other forms of established cardiomyopathy (2). Whether it is a distinct cardiomyopathy or a morphological variant of other types of nonischemic cardiomyopathy is still debated. There are uncertainties regarding its prevalence and incidence, natural history including prognosis, best diagnostic approaches, and management. Most published data on LVNC is likely to include a significant publication bias. Nonetheless, the reported morbidity and mortality of LVNC patients is high for both pediatric and adult subjects. LVNC may be familial in 30% to 50% of cases with autosomal dominant and X-linked recessive being the preponderant modes of inheritance. Even though the role of sarcomeric mutations in the pathogenesis of LVNC is recognized, the genotype-phenotype correlation is poor. Both echocardiogram and cardiac magnetic resonance (CMR) are widely utilized as imaging modalities to diagnose LVNC. In addition to superior spatial resolution and reproducibility, contrast-enhanced CMR can also assess late gadolinium enhancement pattern as a surrogate marker for myocardial fibrosis. Due to the risk of over-diagnosis of LVNC based on imaging criteria alone, interpretation of imaging findings in the clinical context is recommended.
We report 2 short cases of related individuals (Figures 1, 2, and 3, Online Videos 1, 2, 3, and 4) with increased LV trabeculations. The key learning points highlight the importance of LV systolic function and pre-test probability in formulating the management plan (Figure 4).
For accompanying videos and their legends, please see the online version of this article.
Dr. Petersen is a consultant to Circle Cardiovascular Imaging. All other authors have reported that they have no relationships relevant to the contents of this paper to disclose.
- Received March 2, 2016.
- Revision received March 21, 2016.
- Accepted March 24, 2016.
- 2017 American College of Cardiology Foundation
- Arbustini E.,
- Weidemann F.,
- Hall J.L.
- Oechslin E.,
- Jenni R.