Early-onset Marfan syndrome (eoMFS) is a rare subset of Marfan syndrome with varying phenotypic expression that occurs in the neonatal and infantile periods. eoMFS has a poor prognosis associated with high rates of mortality. Most newborn eoMFS patients present early onset heart failure that is resistant to treatment. This study presents a case of eoMFS.

Objective: We explored the usefulness of speckle-tracking imaging (STI) to assess cardiac function in fetal congenital heart disease in the early second trimester. Method: A total of 152 pregnant women with a singleton pregnancy who underwent early fetal echocardiography at the ultrasound department of our hospital were randomly selected. There were 40 fetuses with congenital heart disease (case group) and 112 healthy fetuses (control group). STI was performed in both groups to measure fetal left ventricular (LV) and right ventricular (RV) endocardial-myocardial global longitudinal strain (GLSendo), time to peak longitudinal strain (TTPS), fractional area change (FAC), and LV ejection fraction (LVEF). These parameters were compared between the two groups, and correlation analyses were performed. Results: There were no significant differences in fetal LVEF and RVFAC between the case and control groups. The LV GLSendo and RV GLSendo were lower in the case group ( P < 0.05). The LV TTPS and RV TTPS were negatively correlated with fetal heart rate in both groups.After heart rate correction, the TTPS in the case group was longer than in the control group. Conclusion: STI may be useful to quantitatively evaluate fetal myocardial deformation and function in the early second trimester.

Methods The study included 59 patients with normal fetal heart structure, blood flow, and heart rhythm (fetal abnormality-negative group) and 50 patients with abnormal fetal heart structure, blood flow, and/or heart rhythm (fetal abnormality-positive group). aCMQ was performed in both groups to obtain left and right ventricular endocardial global longitudinal strain (GLSendo), mid-myocardial global longitudinal strain (GLSmid), and epicardial global longitudinal strain (GLSepi). Parameters between the two groups were compared and correlation analyses performed. A deformation analysis was performed by two trained observers, and reproducibility was assessed. Results The fetal left ventricular and right ventricular global longitudinal strain (LV-GLS and RV-GLS, respectively) decreased in a gradient from the endocardium to the epicardium. LV-GLS and RV-GLS of all myocardial layers were lower in the fetal abnormality-positive than -negative group (all P<0.05). Correlation analysis showed that neither LV-GLS nor RV-GLS was significantly correlated with gestational age in the fetal abnormality-negative group (all P>0.05), whereas left ventricular GLSendo, GLSmid, and GLSepi were negatively correlated with gestational age in the fetal abnormality-positive group (r=−0.39 to −0.44, all P<0.05). Repeatability testing showed that the inter-observer and intra-observer intraclass correlation coefficients for LV-GLS and RV-GLS in each myocardial layer were >0.75 (all P<0.001). Conclusions As a new speckle tracking echocardiography tool, aCMQ has feasibility and repeatability in evaluating myocardial deformation of the fetal ventricle. This technique might provide helpful information on ventricular myocardial deformation in fetal hearts with abnormal structure or rhythm for clinical guidance in pregnancy.

We report what apprears to be the first case of fetal noncompaction cardiomyopathy in both ventricles accompanied by a mutation in the calmodulin gene (CALM2): A 25-year-old woman was referred to our hospital at 25+1 weeks of gestation for evaluation of fetal defects. A postnatal echocardiography showed biventricular noncompaction cardiomyopathy. After terminated the pregnancy, fetal noncompaction cardiomyopathy was comfirmed by autopsy and histopathologic examination. And the whole-exome sequencing of genomic DNA demonstrated a de novo heterozygous mutation (c.389A>G;p.D130G) in CALM2, whereas the parents were normal. In this case report, we highlight the gene mutation in noncompaction cardiomyopathy.