Prenatal Diagnosis of Ebstein Anomaly in a Centre with Limited Resources: A Potential Pitfall

BACKGROUND: Ebstein anomaly is a rare congenital cardiac malformation characterized by varying degrees of downward displacement of the tricuspid valve leaflets into the cavity of the right ventricle. The pathophysiology varies with the degree of valvular malfunction, the size, and contractility of the right ventricle, and the presence of obstruction within the right ventricular outflow tract. An early diagnosis makes worse the often prognosis. Fetal echocardiography is a useful tool for the diagnosis of congenital heart disease including the Ebstein anomaly which shows a wide spectrum of ultrasonographic manifestations and, sometimes it can be difficult to make a true prenatal diagnosis. CASE REPORT: Here, we describe a unique case of an Ebstein anomaly in 26 weeks of gestation fetus through prenatal echocardiographic evaluation. Fetus was suspected as a severe form of the Ebstein anomaly, with a severe form of right atrium enlargement, huge tricuspid insufficiency, and hypoplastic pulmonary artery. The atrial septum, dimensions of cardiac structures, left and right cardiac output, and Doppler interrogation of cardiac flows were examined. CONCLUSION: This case study presents a well-documented case of Ebstein’s anomaly type D that was diagnosed prenatally using fetal echocardiography.

Long-term Survival of Patients With Unoperated Single Ventricle Heart Defect: Four Case Reports and Literature Review

Background: A single ventricle heart defect is a rare complex congenital cardiac malformation. It is rare for patients with single ventricle to spontaneously survive long-term to adulthood. No literature was retrieved that summarized the ultrasonographic features of patients with single ventricle who survived for a long time without surgery.Case presentation: Four patients in this study were diagnosed with single ventricle heart defects during childhood, but received no surgical intervention. All four patients had good outcomes. We summarize the ultrasound findings of these patients.Conclusion: We summarize the factors that contribute to the long-term survival of single ventricle patients without surgical intervention, and discuss the diagnosis and treatment of single ventricle to improve the survival rate of patients.

Aorto-pulmonary Window, a Rare Congenital Heart Disease: Case Report

Aortopulmonary window (APW) is an uncommon congenital cardiac malformation, accounting for 0.1% of all congenital cardiac diseases. It is a defect between the ascending aorta and the trunk of the pulmonary artery. Such abnormality may occur as an isolated lesion or it can be associated with other cardiac abnormalities in one third to one half of cases. Clinical and hemodynamic presentation of this condition depends on the size of the defect and on the associated lesions. It is usually fatal in infancy or childhood if untreated with the development of irreversible pulmonary hypertension. Once the diagnosis is made, surgery must be performed quickly to avoid irreversible pulmonary vascular disease. We report the case of a 5-month-old infant with APW who was referred to our center by respiratory symptoms and heart murmurs.

Late Presentation of Aortopulmonary Window with Tetralogy of Fallot: Report of a Very Rare Case

Aortopulmonary window (APW) itself is a rare congenital cardiac malformation and its association with Tetralogy of Fallot (TOF) makes it more uncommon. We report a case of APW with TOF who presented at 4-year 10 months of age. As the boy was still in operable state, after thorough preoperative evaluation successful surgical repair was done.

Isolated ventricular inversion with hypoplastic right ventricle and pulmonary stenosis in an adolescent with situs solitus: a rare combination

Isolated ventricular inversion with situs solitus is a severe and rare congenital cardiac malformation characterised by an atrioventricular discordance but with ventriculo-arterial concordance. Here, we present the rare case of an adolescent with isolated ventricular inversion and hypoplasia of the left-sided morphological right ventricle and pulmonary stenosis, a first of its kind to be reported in the literature.

Extent of Coronary Artery Disease in Patients With Stenotic Bicuspid Versus Tricuspid Aortic Valves

Background Bicuspid aortic valve (BAV) is the most common congenital cardiac malformation, which is often complicated by aortic valve stenosis (AoS). In tricuspid aortic valve (TAV), AoS strongly associates with coronary artery disease (CAD) with common pathophysiological factors. Yet, it remains unclear whether AoS in patients with BAV is also associated with CAD. This study investigated the association between the aortic valve morphological features and the extent of CAD. Methods and Results A single‐center study was performed, including all patients who underwent an aortic valve replacement attributable to AoS between 2006 and 2019. Coronary sclerosis was graded on preoperative coronary angiographies using the coronary artery greater even than scoring method, which divides the coronaries in 28 segments and scores nonobstructive (20%–49% sclerosis) and obstructive coronary sclerosis (>49% sclerosis) in each segment. Multivariate analyses were performed, controlling for age, sex, and CAD risk factors. A total of 1296 patients (931 TAV and 365 BAV) were included, resulting in 548 matched patients. Patients with TAV exhibited more CAD risk factors (odds ratio [OR], 2.66; 95% CI, 1.79–3.96; P <0.001). Patients with BAV had lower coronary artery greater even than 20 (1.61±2.35 versus 3.60±2.79) and coronary artery greater even than 50 (1.24±2.43 versus 3.37±3.49) scores ( P <0.001), even after correcting for CAD risk factors ( P <0.001). Patients with TAV more often needed concomitant coronary revascularization (OR, 3.50; 95% CI, 2.42–5.06; P <0.001). Conclusions Patients with BAV who are undergoing surgery for AoS carry a lower cardiovascular risk profile, correlating with less coronary sclerosis and a lower incidence of concomitant coronary revascularization compared with patients with TAV.

Utility of a modified vascular corrosion casting technique in the diagnosis of fetal total anomalous pulmonary venous connection

Total anomalous pulmonary venous connection (TAPVC) is a rare congenital cardiac malformation, and prenatal detection of TAPVC malformation remains a challenging. TAPVC can be easily missed or misdiagnosed in prenatal examinations. This study was aimed to use the modified vascular corrosion casting technique to prepare fetal cardiovascular casts with TAPVC and investigate the utility of cardiovascular casting for the demonstration of fetal TAPVC. The retrospective study enrolled twenty fetuses (22 to 29 + 4 gestational weeks) with TAPVC diagnosed by prenatal echocardiography and casting technique from May 2015 to May 2020. Pre- and postnatal medical records, including results obtained by prenatal ultrasound, postpartum computed tomography angiography, as well as anatomic and cardiovascular casting findings were carefully reviewed and analyzed. In twenty cases, 80% (16/20) had intra- or extracardiac malformations. The TAPVC types were supracardiac (n = 8), cardiac (n = 6), infracardiac (n = 4), and mixed (n = 2). The diagnosis of 1 case each of supracardiac and cardiac TAPVC was modified to partial anomalous pulmonary venous connection; additionally, 4 malformations were missed and 2 were misdiagnosed, including an anomalous left brachiocephalic vein in supracardiac TAPVC, abnormal inflow of the hepatic vein and a double inferior vena cava in infracardiac TAPVC; and bilateral ductus arteriosus in infracardiac TAPVC; a tetralogy of Fallot in cardiac TAPVC that was corrected to right ventricular double outlet; and an absence of ductus arteriosus that was misdiagnosed as slim ductus arteriosus. Comparing with ultrasound, casting technique has its own superiority in exhibiting TAPVC abnormalities, especially in certain types such as course, origin and absence abnormalities of ductus. Postpartum cardiovascular casts can accurately depict the branch structure of the heart’s larger vessels, and may be used as a clinical assessment and teaching method in complex cardiac malformations.

Long-term survival of patients with unoperated single ventricle heart : case reports and literature review

A single ventricle (SV) heart defect is a rare complex congenital cardiac malformation. We followed up the four adult patients who had SV since birth without surgical intervention and they had a good prognosis.The common ultrasound characteristics of four long-term SV survivors were investigated by reviewing their medical records and the literature, and the current treatment methods for SV patients were also reviewed. In our opinion,such patients with balanced hemodynamic condition should be followed and treated conservatively. This report aims to improve the prognosis as well as quality of life of SV patients.

Prenatal ultrasound diagnosis of fetal giant left ventricular aneurysm： A case report

Fetal ventricular aneurysm is a rare congenital cardiac malformation that can occur in various cardiac cavities and often exists in isolation without other malformations. Modern ultrasound technology can assist the prenatal diagnosis of ventricular aneurysm. Herein, we will present a rare case of a giant left ventricular aneurysm detected by prenatal ultrasonography.

Double-Outlet Right Ventricle in a Chianina Calf

Congenital heart defects have been occasionally reported in cattle and ventricular septal defect represents the most frequently encountered anomaly. The double-outlet right ventricle is a rare congenital ventriculoarterial malformation reported only in certain cattle breeds. We describe this rare and complex congenital cardiac malformation observed in a 10-day-old male Chianina calf. Clinical examination showed tachycardia, tachypnea, jugular pulses, cyanotic mucous membranes and a right apical systolic murmur. Transthoracic echocardiography revealed severe dilation of the right-sided cardiac chambers with a markedly hypoplastic left ventricle. Both aorta and pulmonary artery leaving the right ventricle in parallel alignment with the tricuspid valve were suggestive of a dual-outlet right ventricle. Interventricular and interatrial septal defects were also visualized. Post-mortem examination confirmed the echocardiographic findings. To the authors’ knowledge, a similar complex congenital cardiac malformation has not been reported in calves of the Chianina breed to date.