Hypoplastic left heart syndrome with endomyocardial fibroelastosis diagnosed in first trimester: A case report
Abstract Background Report a case of hypoplastic left heart syndrome (HLHS) with endomyocardial fibroelastosis (EFE) diagnosed in the first trimester. Case presentation We detected a balloon shaped left ventricle, a narrowed reverse blood stream signal in the aortic arch and widened blood stream signals in the pulmonary artery (2.2 mm) and the ductus arteriosus when performing echocardiographic screen with transabdominal sonography in a 31-year-old pregnant woman (gravida 2, para 1) who presented to our department for routine fetal ultrasonography at 11+2 weeks’ gestation. Based on these findings, a diagnosis of HLHS with EFE was suspected. The findings from autopsy confirmed the diagnosis. Conclusion Ultrasound screening in the first trimester may be helpful in early diagnosis of HLHS.