Genetics and Clinical Features of Noncompaction Cardiomyopathy in the Fetal Population

摘要: Objectives: Noncompaction Cardiomyopathy (NCCM) has been classified as primary genetic cardiomyopathy and gained increasing clinical awareness; however, little is known about NCCM in the fetal population. We aimed to investigate characteristics spectrum of a population with NCCM. Methods: retrospectively reviewed all fetuses prenatal diagnosis at single center between October 2010 December 2019. These cases were investigated for gestational age diagnosis, gender, left or biventricular involvement, associated cardiac phenotypes, outcomes, testing data. Results: identified 37 out 49,898 fetuses, indicating that incidence was 0.07%. Of 26 male, ten female one unknown gender. involvement biventricle most common (n = 16, 43%), followed by confined ventricle 14, 38%). Nineteen (51%) had additional congenital heart defects, right-sided lesions being 74%), ventricular septal defects 10, 53%). Hydrops fetalis present 12 (32%), which four atypical (pericardial effusion only). Sequencing analysis performed autopsy 19) postnatally 1) on 20 fetuses. undergoing copy number variation sequencing whole-exome sequencing, nine (47%) positive results, including pathogenic variant eight pathogenic/likely variants. Non-sarcomere gene mutations accounted vast majority 7). In contrast, sarcomere occurred only case (TPM1), no three genes (MYH7, TTN, MYBPC3) pediatric adult patients. Pathogenic/likely variants significantly more frequent than those without defects. Conclusions: Our data demonstrate unique entity. Compared NCCM, prone likely be complicated distinct spectrum.