Prenatal chocardiography in diagnosis of fetal noncompaction of ventricular myocardium / 中国介入影像与治疗学

ABSTRACT

Objective: To investigate the value of prenatal echocardiography in diagnosis of fetal noncompaction of ventricular myocardium (FNVM). Methods: Echocardiographic data of 12 fetuses with FNVM were analyzed and compared with the pathological results. Results: All 12 fetuses were diagnosed with FVNM. Biventricular involvement was detected in 5 fetuses, left ventricle involvement was observed in 5 fetuses, while right ventricle involvement was found in 2 fetuses. FNVM mostly involved the left ventricular apical (n=10). Associated abnormalities of heart structures were noticed in 7 fetuses, while 5 fetuses were found with serous membrane fluid and 3 fetuses with arrhythmia. Eight fetuses were tested for single gene mutation and copy number variations, among them 6 were detected with pathogenic gene mutations, 1 with the likely pathogenic gene mutation KCNH2 and 1 with chromosomal microdeletion. Conclusion: FNVM can involve both the left and the right ventricles, which tends to combine with right sided lesions, arrhythmia and serous membrane fluid. Prenatal echocardiography may play an important role in the diagnosis, prognosis and parental counseling of FNVM.