Myocardial densification incompetent cardiomyopathy revisited (II)

  The pathogenesis of LVNC has been a hot topic of research in recent years, and although a number of murine models have been studied, they remain unclear. The most common conclusion to date is that a large number of myocardial trabeculae are caused by abnormal regulation of cell proliferation, differentiation and maturation during ventricular wall formation, particularly the influence of the NOTCH signaling pathway, but other hypotheses also exist.  The epidemiology of LVNC lacks definitive data so far, therefore LVNC is still considered a rare abnormality and its actual prevalence is not clear. LVNC has been reported in the literature to account for the top three cardiomyopathies. The increased incidence reported in recent years is closely related to the increased clinical awareness and the improved resolution of ultrasound images. Recognition of high familial aggregation and emphasis on ultrasound screening of first-degree relatives has also been a factor. The Department of Pediatric Cardiology at Beijing Anzhen Hospital has enhanced the screening of first-degree relatives for LVNC since 2012. Of the 120 children with LVNC with prior evidence, all 240 of their parents completed echocardiography and 21 cases of LVNC (21/240, 8.8%), including 6 cases with significantly decreased left ventricular systolic function in UCG (EF< 55%), accounting for 28.6% of the 21 parents, and EF< 50% in 4 cases, which is an alarming number. Moreover, most of these screened parents had no obvious clinical symptoms. Although, we lack epidemiological data of LVNC in China, the attention and detailed measurement of myocardial trabeculae by cardiac sonographers will certainly promote more clinical awareness of LVNC, and ultrasound screening of LVNC prevalent first-degree relatives will in turn detect patients with potentially serious heart disease and give early intervention to improve prognosis.