Futoshi Kayatani

Fetal Echocardiographic Imaging of Total Anomalous Pulmonary Venous Connection

A 33-year-old woman was referred for fetal echocardiography at 31 weeks of gestation because her first child had undergone surgery for total anomalous pulmonary venous return (TAPVR). Color Doppler imaging demonstrated two left pulmonary veins and a right pulmonary vein joining a common chamber behind the left atrium and emptying into the right atrium (Fig. 1). Black-and-white imaging on followup fetal echocardiography at 35 weeks of gestation revealed two large balloon-like chambers behind the left atrium (Fig. 2). A female infant was born at 39 gestational weeks. The fetal echocardiographic diagnosis was confirmed after birth. We describe the fetal diagnosis of TAPVR without suspected right atrial isomerism [1, 2]. A ‘‘double balloon sign’’ behind the left atrium on fetal echocardiography is suggestive of TAPVR, especially when color Doppler demonstrates that abnormal pulmonary venous return is present.

Congenital aneurysm of the right atrial appendage in a fetus.

A 43-year-old pregnant woman was referred to our maternity department at the 38th week of gestation because of fetal dilation of the atrium. She was a primipara at an advanced age and had no other prenatal data of interest. Initially, fetal echocardiography showed a large intrapericardial structure, anterior and to the right of the right atrium (RA), communicating with the RA. The right appendage, measuring 34 9 17 mm, was very dilated and positioned together with the RA as if it were a third atrium (Fig. 1). There was no tricuspid regurgitation or other structural abnormalities. A normal vaginal delivery was performed in the 41st week. The neonate was a female and weighed 3,038 g. The neonate had no significant findings at cardiorespiratory examination after birth. A chest X-ray showed mild cardiomegaly. An electrocardiogram showed slight RA loading and no evidence of arrhythmia. Echocardiography in the subcostal view showed dilation of the RA similar to that of the prenatal period. The lesion was confirmed by computed tomography in the axial view, which depicted a giant aneurysm of the right appendage measuring 28 9 17 mm and causing compression of the right ventricular inlet (Fig. 2a). We ensured that there was no thrombus formation in the aneurysm (Fig. 2b, c). We did not administer medication, including antiplatelet therapy. Careful observation is required for thromboembolic complications until the patent foramen ovale is closed.

Prenatal Diagnosis of Aortopulmonary Window with Interrupted Aortic Arch by Fetal Echocardiography

We report the first case of prenatally diagnosed aortopulmonary window (APW) with interrupted aortic arch. The mother was referred for fetal echocardiography at 29 weeks’ gestation because of suspected congenital heart disease. On the short-axis view, we clearly imaged the aortopulmonary septal defect at the proximal pulmonary artery and type A interrupted aortic arch. The window was 4 mm and the shunt flow detected by color flow Doppler was right-to-left in systole and early diastole. All aortic arch branches originated from the aorta proximal to the interruption. The well-developed ascending aorta was not continuous with the descending aorta in the sagittal view of the aortic arch. Visualization of the direction of the shunt flow across the APW and each origin of subclavian arteries was useful for the diagnosis of APW with interrupted aortic arch.

Morphologic Analysis of Common Atrioventricular Valves in Patients with Right Atrial Isomerism

Abstract. The objective of the study was to examine the relation between the morphology of the common atrioventricular valve and regurgitation of the valve in patients with right atrial isomerism. We examined seven consecutive patients with documented right atrial isomerism who subsequently underwent postmortem examination during a 10-year period. The degree of regurgitation and the diameters of the common valve were evaluated via cineangiography, and the site of regurgitation was evaluated by echocardiography. The morphology of the common atrioventricular valve was assessed further at autopsy. Cineangiography revealed valve diameters ranging from 14.8 to 27.8 mm (mean 20.9 mm). Valvar regurgitation was revealed within 2 months of birth in all patients. Regurgitation abruptly worsened in three patients after placement of a Blalock–Taussig shunt or a central shunt and postintubation. Autopsies revealed that the common atrioventricular valve consisted of four leaflets in five patients, and three leaflets in two. The anterior leaflets were large and protruding in all patients, and the lateral leaflets were thickened in six. All patients had a mass consisting of the left lateral leaflets and chordae with direct attachment of the chordae to the ventricular muscle (the right lateral leaflet was attached to the ventricular muscle and immobile in one patient). The lateral leaflets clung to the ventricular wall and exhibited poor movement in six patients. Leaflets with poor mobility corresponded to the regurgitant valvar site as assessed by echocardiography in six patients; and the regurgitation in three patients with acute deterioration occurred at the valvar side with poor mobility. It is concluded that the common atrioventricular valve in patients with right atrial isomerism has morphologic characteristics that may be associated with valvar regurgitation and malignant potential for abrupt deterioration after replacement of systemic–pulmonary shunting.

Pulmonary and systemic arteriovenous fistulas in patients with left isomerism

Hepatic venous blood has been thought to play some role as a vasoactive agent in the development of pulmonary arteriovenous fistulas in patients with congenital heart disease. During the last 15 years, we have observed pulmonary arteriovenous fistulas in 3, and systemic arteriovenous fistulas in 2, patients from our 16 cases of left isomerism. During the same period, neither pulmonary nor systemic arteriovenous fistulas were detected among 50 patients with right isomerism. Pulmonary arteriovenous fistulas had developed in the absence of surgery in 1 of the patients. Both pulmonary and systemic fistulas were detected in an another patient, in whom the hepatic venous blood bypassed the pulmonary circulation. The level of somatostatin, which is known to reduce splanchnic blood flow, was high in the systemic venous blood of this patient. Although the mechanism of development of the fistulas has yet to be clarified, we should be aware that not only pulmonary, but also systemic arteriovenous fistulas can be found in patients with left isomerism, even prior to any surgical intervention.

Clinical Features of the Complete Closure of the Ductus Arteriosus Prenatally

OBJECTIVE Prenatal constriction of the ductus arteriosus associated with maternal drug ingestion was reported several decades ago. There are fewer reports of the complete closure of the ductus arteriosus; therefore, the clinical features of the latter are poorly understood. The aim of this study is to clarify the clinical features of complete ductal closure and postnatal pulmonary hypertension by performing echocardiography of the fetus. PATIENTS We diagnosed four fetuses with complete ductal closure by performing fetal echocardiography and reviewed the prenatal and postnatal medical records of the mother and fetus. RESULTS One mother each had bronchial asthma, ulcerative colitis, and idiopathic thrombocytopenic purpura, and they had received nonsteroidal anti-inflammatory drugs and/or corticosteroids during pregnancy. The fourth mother did not have basal disease and had not ingested any drugs. Fetal diagnosis was performed at 32-38 weeks of gestation. All fetuses had right heart dilatation with tricuspid regurgitation in the absence of any cardiac defects, and Doppler echocardiography indicated that the right ventricular pressure was elevated. Two of the fetuses had fetal hydrops, which suggested severe right heart dysfunction. All fetuses were delivered by emergent cesarean delivery. After birth, all the infants developed persistent pulmonary hypertension and required oxygen inhalation. Of these, three required mechanical ventilation, and two, nitric oxide inhalation. All infants improved within 2 weeks, and they had no neurological and cardiac complications after discharge. CONCLUSION Right heart dilatation and severe tricuspid regurgitation in the absence of a cardiac defect in the fetus strongly suggested ductal dysfunction. Careful evaluation of ductal patency and right ventricular function can lead to precise early diagnosis and good prognosis.

Prenatal complex congenital heart disease with Loeys–Dietz syndrome

We report an infantile case of Loeys-Dietz syndrome prenatally diagnosed with congenital complex heart disease - double outlet right ventricle and interruption of the aortic arch. The patient also showed prominent dilatation of the main pulmonary artery. Emergency bilateral pulmonary artery banding was performed on the 9th day. However, on the 21st day, the patient died of massive bleeding due to rupture of the right pulmonary artery. Subsequently, a mutation of the TGFBR1 gene was detected. As cardiovascular lesions of Loeys-Dietz syndrome appear early and progress rapidly, the prognosis is generally poor. Patients require periodic examination and early intervention with medical therapy such as Losartan administration and surgical therapy. Early genetic screening is thought to be useful for the prediction of complications as well as vascular disease.

Repair of left ventricular diverticulum with ventricular bigeminy in an infant

Surgical repair of left ventricular diverticulum usually is not required in infancy even though it combines with other anomalies. In addition to prevention of rupture of the diverticulum and thrombus formation, treatment of combined ventricular tachycardia is thought to be an indication for resection of the diverticulum. We describe a successful repair performed by excising the isolated left ventricular diverticulum under cardiopulmonary bypass in a 9-day-old infant. The combined ventricular bigeminy has disappeared 9 months after the operation.

Optimal degree of pulmonary artery banding—Adequate circumference ratio to calculated size from normal pulmonary valve dimensions

These findings suggest that PA banding may be suitable in children with congenital heart disease and excessive pulmonary flow, and that best results are obtained when the band circumference is < 90% of the standard pulmonary valve-ring circumference, as calculated from an equation derived from normal pulmonary valve dimensions. This guideline applies equally well to small infants weighing < 3 kg and to larger patients.

Endocrinological Characteristics of 25 Japanese Patients with CHARGE Syndrome

Abstract CHARGE syndrome is a congenital disorder caused by mutation of the chromodomain helicase DNA binding protein 7 (CHD7) gene and is characterized by multiple anomalies including ocular coloboma, heart defects, choanal atresia, retarded growth and development, genital and/or urological abnormalities, ear anomalies, and hearing loss. In the present study, 76% of subjects had some type of endocrine disorder: short stature (72%), hypogonadotropic hypogonadism (60%), hypothyroidism (16%), and combined hypopituitarism (8%). A mutation in CHD7 was found in 80% of subjects. Here, we report the phenotypic spectrum of 25 Japanese patients with CHARGE syndrome, including their endocrinological features.