Prenatal Delineation of Coronary Anatomy in Dextro-Transposition of Great Arteries.

BACKGROUND: Dextro-transposition of the great arteries (D-TGA) is the second-most common cyanotic congenital heart disease with variable coronary artery anatomy. The arterial switch procedure has revolutionized outcomes for this defect, with coronary anatomy being a key determinant of both short- and long-term outcomes following surgical repair. The assessment of coronary anatomy is usually undertaken in the postnatal period by transthoracic echocardiography, with assessment prenatally not being well studied. We sought to assess the feasibility of delineating the coronary arteries on fetal echocardiograms in a small cohort of patients followed prenatally. METHODS: This was a retrospective review of fetuses with D-TGA from 2008 to 2018. Patients with prenatal diagnosis of D-TGA were reviewed for the assessment of coronary artery anatomy. Details of coronary artery anatomy diagnosed prenatally were compared with postnatal transthoracic echocardiograms and intraoperative findings. RESULTS: Thirty-four fetuses with findings of D-TGA on prenatal echocardiograms were reviewed. 14/34 fetuses had attempted delineation of coronary artery anatomy, with average gestational age of 28 weeks (range 23-31 weeks) at the time of diagnosis. Two-dimensional and color Doppler imaging of the coronary arteries on both short and long axis images were performed, with complete delineation being possible in ~ 86% of fetuses. These findings were confirmed postnatally. CONCLUSIONS: Fetuses with D-TGA can have variable coronary artery anatomy which drives postnatal outcomes. Our study describes a cohort of patients with D-TGA wherein coronary artery anatomy was assessed. We demonstrate that coronary artery evaluation is feasible prenatally with optimal imaging techniques, being more successful after 25 weeks' gestation. The potential knowledge of dangerous variants can help with referral to centers of excellence for appropriate postnatal management and facilitate prenatal care accordingly.

Intrafamilial variability of noncompaction of the ventricular myocardium.

BACKGROUND: Noncompaction of the ventricular myocardium (NVM) is a relatively uncommon form of cardiomyopathy characterized by a highly trabeculated myocardium. This report describes the clinical and genetic evaluation of a 3-generation kindred. METHODS: Family members were initially evaluated by 2-dimensional echocardiography. Most family members with signs of NVM were further evaluated by magnetic resonance imaging. Genetic analyses included mutational screening of the taffazin (TAZ) and alpha-dystrobrevin (DTNA) genes. RESULTS: Eight family members had signs of NVM. Considerable interindividual variation was noted in terms of spatial distribution and severity of affected regions and ventricular dysfunction. Depending on which of 2 previously proposed quantitative diagnostic criteria were used and where ventricular myocardial measurements were taken, between 4 and 7 of these individuals had findings that were considered diagnostic. Magnetic resonance imaging served as a useful adjunct for confirming or establishing diagnoses in all 8 individuals. No mutation was found in TAZ or DTNA. CONCLUSIONS: This kindred demonstrates the remarkably wide phenotypic spectrum that can be seen in familial cases of NVM, ranging from prenatal/neonatal lethality to a complete lack of symptoms. The fact that all 8 affected individuals either have shown improvement in ventricular function or symptoms during childhood or have been asymptomatic indicates that NVM can have a relatively benign course. The degree and nature of cardiac involvement are also quite varied, and there is a weak correlation with ventricular function and symptoms. Evaluation of families with NVM requires careful assessment that uses a combination of imaging techniques and diagnostic criteria.

Prenatal diagnosis of ventriculocoronary arterial communication in fetuses with hypoplastic left heart syndrome.

OBJECTIVE: The purpose of this series was to describe the fetal echocardiographic findings in hypoplastic left heart syndrome with aortic atresia and ventriculocoronary arterial communication and implications of these findings. METHODS: We describe 2 fetuses with hypoplastic left heart syndrome with ventriculocoronary arterial communication diagnosed at 29 and 20 weeks' gestation, respectively. The underlying cardiac anatomy consisted of a hypoplastic left heart and mitral stenosis with aortic atresia. We used color Doppler and pulsed Doppler sonography on the surface of the myocardium to specifically look for coronary arterial flow. RESULTS: By color Doppler sonography, ventriculocoronary arterial communication was shown between the left ventricular cavity and the left coronary artery with characteristic bidirectional flow on pulsed Doppler examination. There was no mitral regurgitation. The left ventricular myocardium was substantially hypertrophied. The first patient underwent surgical Norwood palliation and died after a prolonged postoperative course. The second patient underwent stenting of the arterial duct and bilateral pulmonary artery banding in the catheterization laboratory but died after a few weeks. Implications of ventriculocoronary arterial communication in association with hypoplastic left heart syndrome are discussed. CONCLUSIONS: It is possible to accurately diagnose ventriculocoronary arterial communication on fetal echocardiography. The presence of ventriculocoronary arterial communication is seen exclusively in a subgroup of patients with an aortic atresia and mitral stenosis variant of hypoplastic left heart syndrome. The prognosis is poor in this subgroup of patients.

Fetal echocardiographic diagnosis of vascular rings.

OBJECTIVE: The purpose of this series is to describe the prenatal echocardiographic findings of vascular rings. METHODS: The 3-vessel and trachea view consists of the axial view of the upper mediastinum. The normal left aortic arch appears as a V-shaped confluence of the ductus arteriosus and aortic arch, with the trachea situated posterior and to the right. No vessel should encircle the trachea. The diagnoses of vascular rings were made prenatally and were confirmed in all patients postnatally. RESULTS: Six fetuses had diagnoses of vascular rings. The mean gestational age at diagnosis was 23.3 weeks (range, 18-31 weeks). The indications for fetal echocardiography were family history of congenital heart disease, echogenic focus in the left ventricle, and abnormal 4-chamber view. There were 2 fetuses with a double aortic arch; 3 fetuses with a right aortic arch, an aberrant left subclavian artery, and a left ductus arteriosus; and 1 with a right circumflex aortic arch with a left ductus arteriosus and an aberrant left subclavian artery. Two fetuses had associated structural cardiac defects, 1 with an unbalanced atrioventricular septal defect and trisomy 21 and the other with a double-outlet right ventricle, pulmonary atresia, and multiple other congenital anomalies. CONCLUSIONS: Vascular rings can be accurately diagnosed prenatally with recognition of a vascular structure that courses around the trachea and absence of the usual V-shaped relationship of the aortic and ductal arches. The color Doppler findings and the presence of a ductus arteriosus aid in identifying various components of the vascular ring.

Prenatal diagnosis of tetralogy of Fallot with obstructed supracardiac totally anomalous pulmonary venous connection.

We describe our experience with prenatal diagnosis of tetralogy of Fallot with supracardiac totally anomalous pulmonary venous connection. We also suspected obstruction in the ascending vertical vein as it crossed the right bronchus and coursed superiorly to join the right superior caval vein. This finding was confirmed on postnatal echocardiography, and at autopsy.

Totally anomalous pulmonary venous connection and complex congenital heart disease: prenatal echocardiographic diagnosis and prognosis.

OBJECTIVE: The purpose of this study was to determine the accuracy of prenatal cardiac diagnosis, prognosis, and outcome of totally anomalous pulmonary venous connection (TAPVC) and to determine echocardiographic clues in the prenatal diagnosis of isolated TAPVC or TAPVC in association with other complex congenital heart disease (CHD). METHODS: We reviewed our 13-year experience of prenatal diagnosis of TAPVC. Thirteen fetuses were identified with the diagnoses of TAPVC. We systematically analyzed the individual pulmonary veins by color and pulsed Doppler imaging, the presence of a pulmonary venous confluence, the pulsed and color Doppler evaluation of the vertical vein, and sites of connections. Prenatal diagnosis was confirmed by postnatal echocardiography, cardiac catheterization, surgery, or autopsy. RESULTS: The mean gestational age at diagnosis of TAPVC was 26.3 weeks (range, 20-33 weeks). There were 8 fetuses with TAPVC and right isomerism, 3 fetuses with other associated CHD, and 2 with isolated TAPVC. There were 7 fetuses with supracardiac TAPVC, 4 with infracardiac TAPVC, and 2 with mixed TAPVC. Pulmonary vein color and pulsed Doppler data were available in 10 of 13 fetuses. The pulmonary venous confluence was visualized in all fetuses except 1. The vertical vein was visualized in all fetuses. Five fetuses had suspected signs of obstruction. The diagnosis was confirmed postnatally or at autopsy in 12 cases. Eight patients underwent surgery; 6 died, and 2 were alive. Two patients had compassionate care and died; 3 pregnancies were terminated. CONCLUSIONS: It is possible to diagnose accurately complex CHD, including the pulmonary venous connections. When diagnosed prenatally, TAPVC carries a poor prognosis.

HLHS with severe aortic insufficiency in a patient with 45,X/46,XY mosaicism.

Aortic insufficiency is not a part of the hypoplastic left heart syndrome. This report describes a rare case of congenital aortic insufficiency from a detached leaflet in a patient with hypoplastic left heart syndrome and 45,X/46XY mosaicism. The patient was subsequently treated with the modified Norwood procedure along with suture closure of aortic valve.