Kotaro Oyama

Molecular and clinical study of 183 patients with conotruncal anomaly face syndrome

To investigate molecular and clinical aspects of conotruncal anomaly face (CAF), we studied the correlation between deletion size and phenotype and the mode of inheritance in 183 conotruncal anomaly face syndrome (CAFS) patients. Hemizygosity for a region of 22q11.2 was found in 180 (98%) of the patients with CAFS by fluorescence in situ hybridization (FISH) using the N25(D22S75) DiGeorge critical region (DGCR) probe. No hemizygosity was found in three (2%) of the patients with CAFS by FISH using nine DiGeorge critical region probes and a SD10P1 probe (DGA II locus). None of these three patients had mental retardation and just one had nasal intonation, which was observed in almost all of the 180 CAFS patients who carried deletions (mental retardation, 92%; nasal voice, 88%). Nineteen of 143 families (13%) had familial CAFS and 16 affected parents (84%) were mothers. Although only two of the affected parents had cardiovascular anomalies, the deletion size in the 16 affected parents and their affected family members, who were studied by FISH analysis, was the same. It indicates that extragenic factors may play a role in the genesis of phenotypic variability, especially in patients with cardiovascular anomalies. No familial cases were found among CAFS patients with absent thymus/DiGeorge anomaly (DGA). Also, in all 18 CAFS patients with completely absent thymus/DGA and all 6 CAFS patients with schizophrenia, it was revealed that the deletion was longer distally. A study of the origin of the deletion using microsatellite analyses in 48 de novo patients showed that in 65% of CAFS patients it was maternal, while in 64% of DGA patients it was paternal. The findings of this study indicated that CAF was almost always associated with the deletion of 22q11.2. As well as the major features of the syndrome, other notable extracardiac anomalies were found to be susceptibility to infection, schizophrenia, atrophy or dysmorphism of the brain, thrombocytopenia, short stature, facial palsy, anal atresia, and mild limb abnormalities.

Nonobstructing Accessory Mitral Valve Tissue and Ventricular Septal Defect

A 4-month-old boy with ventricular septal defect was found to have accessory mitral valve tissue attached to the anterior leaflet of the mitral valve. Operation was successfully performed to excise the accessory mitral tissue in the left ventricular outflow tract and close the ventricular septal defect. Most previously reported cases with accessory mitral valve tissue were associated with left ventricular outflow tract obstruction. This boy had no pressure gradient across the left ventricular outflow tract. The indications for prophylactic excision of nonobstructing accessory mitral valve tissue in a patient with other forms of congenital cardiac disease are discussed.

AP window and anomalous origin of right coronary artery from the window

Aortopulmonary window (APW) is a rare malformation. We recently operated on a child with APW, ventricular septal defect, right aortic arch, and anomalous right coronary artery from the APW. This patient also had a chromosomal abnormality. He underwent the repair of this complex lesion in a staged operation.

Myocardial lesions by Coxsackie virus B3 and cytomegalovirus infection in infants

SummaryImmunofluorescent and electron-microscopic studies were performed to determine the distribution of viral antigens and particles and to clarify the relationship to myocardial lesions in two autopsy cases with generalized infection of Coxsackie virus B3 (CVB3) or cytomegalovirus (CMV). Case 1 was a full-term newborn female infant, without any congenital anomalies, who died of cardiac failure 10 days after birth. CVB3 was isolated from the blood before death. Necrosis of the muscle fibers was observed, frequently accompanying calcification. Numerous histiocytes and a few lymphocytes and neutrophils had infiltrated in and around the necrotic areas. Immunofluorescent study (IF) revealed CVB3 antigen in the muscle fibers and vascular endothelial cells. Case 2 was a female infant, born at 28 weeks of gestation, who died of fatal arrhythmia 50 days after birth. The infant had hemocephalus and a history of idiopathic respiratory distress and underwent an operation for patent ductus arteriosus. Cytomegalic cells were frequently found in the vascular endothelial cells in the myocardium and occasionally in muscle fibers. IF showed the presence of CMV antigen in both endothelial cells and muscle fibers. CVB3 and CMV antigens were detected predominantly in vascular endothelial cells rather than in the muscle fibers. Blood flow disturbance due to endothelial damage is a cause of the myocardial lesion in addition to the direct invasion of the muscle fibers by the virus.

EXOGENOUS SURFACTANT THERAPY IN INFANTS WITH RDS: COMPARISON OF EARLY VS LATE TREATMENT

We report successful treatment of RDS with exogenous surfactant (TA). We studied the clinical course of three groups of infants with RDS. Control Grp. (C,n10) did not receive TA, early Grp. (E,n 10) received TA at a [xmacr ] age of 3½ hrs. Late Grp. (L,n10) received surfactant at [xmacr ]=8½ hrs. of age. TA surfactant dispersed in saline was given via endotracheal tube. Results of sequential MAP and a/APO2 are shown below. There were no differences in B.Wt. and GA between the Grps. Before treatment MAP and a/APO2 were the same in all Grps. Following therapy, MAP dropped significantly both in E & L Grps. (p<.01) by 1 hr. It decreased steadily in Grp. E. The differences between Grps. E and L were also significant (p<.01). Similarly, a/APO2 improved significantly (p<.01) in both Grps. E and L 1 hr. following treatment. Chest x-rays cleared rapidly in E & L Grps., but not in Grp. C. However, treated Grp. had high incidence of silent PDA. There were no deaths in any group. We conclude that: a) TA treatment rapidly improves the course of RDS; b) E treatment rapidly decreases MAP than Grp. L; and c) both E & L treatment are equally beneficial.

Artery Fistula Causing Aortic Regurgitation in Pulmonary Atresia With Ventricular Septal Defect and Major Aortopulmonary Collateral Arteries

We report a case of aortic regurgitation (AR), coronary artery-to-pulmonary artery (CAPA) fistula, pulmonary atresia with ventricular septal defect (PA/VSD), and major aortopulmonary collateral arteries (MAPCAS). As a result of coronary steal and AR, myocardial ischemia and ventricular dysfunction occurred. When the patient was 2 months old with a body weight of 2.7 kg, we performed fistula ligation, aortic valvuloplasty, unifocalization of the MAPCAS, and right ventricle-to-pulmonary artery shunting. After the operation, the AR volume reduced, and the patient was scheduled for repair.

Aortic translocation using the hemi-mustard procedure for corrected transposition.

The management of congenitally corrected transposition of the great arteries and associated lesions is frequently challenging. Restrictive ventricular septal defect and mild pulmonary stenosis are contraindications to the double switch procedure, including the atrial-Rastelli switch procedure, due to the production of postoperative left ventricular outflow tract obstruction. We describe a case of aortic translocation using the hemi-Mustard procedure after left ventricular training in order to prevent postoperative left ventricular outflow obstruction.

Three-dimensional demonstration of total anomalous pulmonary venous return with contrast-enhanced magnetic resonance angiography.

A newborn male was hospitalized for a heart murmur and severe cyanosis after his birth. Echocardiography showed an abnormal vein crossing below the diaphragm; total anomalous pulmonary venous return (TAPVR, Darling type III) was suspected. A contrast-enhanced 3-dimensional magnetic resonance angiography (MRA) was performed on the 6th day after his birth to assess pulmonary vein stenosis. The MRA was obtained with a 1.5-T superconducting imager (Signa Horizon LX EchoSpeed, with 8.3 operating system software; GE Medical Systems, Milwaukee, WI) and a 4-channel phased array coil for the brain to optimize signal detection with the image sequence from a fast-spoiled gradient-echo (fast-SPGR) with fat suppression. Contrast medium (gadopentetate dimeglumine, 0.1 mmol/kg, Magnevist, Schering, Berlin, Germany), 0.6 mL, was administered at 0.2 mL/sec using a power injector.

Left coronary artery ostial stenosis from Takayasu’s arteritis diagnosed using transthoracic color flow and pulsed Doppler echocardiography

Coronary artery stenosis is seen in 10–45% of patients with Takayasu’s arteritis (TA) and coronary ostia are most frequently involved. It may cause angina pectoris and sudden death during the early course of the disease. We describe a 14-year-old girl who first presented with exertional angina and syncope and was diagnosed as having left coronary artery ostial stenosis from TA by using transthoracic echocardiography. This is the first report showing the important role of color flow and pulsed Doppler echocardiography to detect coronary artery stenosis caused by TA.

Characteristic proton magnetic resonance spectroscopy in glucose transporter type 1 deficiency syndrome

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