Yoshitomo Okajima

Clinical and MRI findings in a case ofd-2-hydroxyglutaric aciduria

We report the 3rd case in the literature of a 3-year-old boy with D-2-hydroxyglutaric (D-2-HG) aciduria, who presented primarily generalized hypotonia and feeding difficulty during the neonatal period, with eventual development of generalized myoclonic seizures. Gas chromatographic analysis of urinary organic acids showed persistent excretion of D-2-HG. The clinical manifestations are quite similar to those of the 2nd reported case with D-2-HG aciduria. Serial MRI performed 1 year and 2 1/2 years after birth demonstrated bilateral symmetrical periventricular lesions in the parieto-occipital white matter, which might reflect the cortical blindness in our patient.

Contrast-enhanced magnetic resonance imaging of cardiac tumors in children.

Although the median survival of unoperated patients with ASD is 36 years,3 survival beyond age 70 is not uncommon.4 Associated tricuspid insufficiency is probably the result of right ventricular enlargement and dilation of the tricuspid anulus. The direction of the shunt in an ASD is ultimately a function of ventricular compliance, and the degree of left-to-right shunt in this patient was probably not significant until aortic stenosis worsened to the extent that left ventricular compliance declined. Acquired aortic stenosis in association with ASD has not previously been reported. Operative mortality for ASD repair in patients over 60 is about 6% ,4, 5 and subsequent survival is equal with that of age-matched controls.6 Advanced age alone does not correlate with a poor surgical outcome, and this patient exemplifies the remarkable improvement that can be observed.

Magnetic resonance imaging of myocardial infarction in kawasaki disease

We performed magnetic resonance imaging in patients with Kawasaki disease following myocardial infarction to assess the usefulness of the technique in detecting myocardial infarction and coronary artery lesions. In six patients (group A), the interval after myocardial infarction was from 7 days to 7 months, and in five patients (group B), it was from 1 to 4 years. Imaging was performed with a superconducting magnet operating at 0.5 T with spin-echo sequence and ECG-gated multiple slices of 5 mm thickness. Myocardial signals were increased in group A, and the region of high signal intensity corresponded to the site of myocardial infarction. The signal intensity within the myocardium was homogeneous in five patients in group B. Coronary arteries were visualized in 20 of 22 instances. Signals within the coronary artery were observed in all 14 instances with poor contrast runoff from the coronary aneurysm, and 11 of these vessels showed high signal intensity. In all six instances in which large aneurysms with severe stenosis were present, signals in the coronary artery were increased. In contrast, high signal intensity in the coronary artery was not observed in five of six instances with good contrast runoff. Signals in the coronary arterial cavity and high signal intensity in the coronary artery persisted in five of six instances with turbulent coronary flow. The findings of increased coronary arterial signals suggested stagnant blood flow in the coronary aneurysm. In conclusion, magnetic resonance imaging was a useful modality for assessment of myocardial infarction and coronary artery lesions in Kawasaki disease.

Vasospastic Angina in a 13-Year-Old Female Patient Whose Only Symptom Was Toothache

Vasospastic angina was confirmed in a 13-year-old female patient at autopsy. The patient’s only symptom was recurrent toothache, which began when she was 10 years old. In November 2000, she was evaluated at our medical center; however, all examinations were judged normal. Six months later, she suffered a severe toothache. She went to school the next morning after the symptoms improved. She lost consciousness at school and was given cardiopulmonary resuscitation but could not be revived. At autopsy, her three coronary vessels showed marked intimal hyperplasia, and multiple focal myocardial infarctions were observed in the lateral wall of the left ventricle. The patient’s only clinical symptom was toothache and none of the physicians realized that this was caused by angina. Vasospastic angina begins at a young age and is one of the causes of sudden death in adolescents.

[Total cavopulmonary connection for grown diminutive pulmonary artery after staged Blalock-Taussig shunt].

We report a two-year-old girl with asplenia, [A, L, L] DORV, pulmonary atresia, common AV valve, PDA, and TAPVC, who successfully underwent total cavo pulmonary connection (TCPC). Deep cyanosis was pointed out since birth. Cardiac catheterization performed on the sixth day after birth revealed a diminutive pulmonary artery tree of which PA index was 41 mm2/m2. Left modified Blalock-Taussig shunt was created at 27 days of age. The PA index increased to 282 mm2/mm2, but disparity in diameter between the left and the right pulmonary artery was yielded by PDA subsidence. Therefore additional contralateral B-T shunt was made at one year of age. Follow-up cardiac catheterization at 28 months of age showed well developed pulmonary artery; PA index of 460 mm2/m2, right pulmonary resistance (Rp) of 3.49 units, left Rp of 2.33 units, and estimated total Rp was 1.39. According to study, bidirectional Glenn procedure or TCPC was indicated. Considering necessity of urgent repair of common pulmonary vein obstruction, regurgitation of the common atrio-ventricular valve and pulmonary artery stenosis, TCPC was performed with concomitant repair of the associated lesions. Severe butterfly-figure stenosis of the central PA was augmented by anastomosing both the left SVC and the left-sided atrium. In conclusion, diminutive pulmonary artery could be adequately grown by phase-in Blalock-Taussig shunts. Pulmonary blood flow scintigraphy was thought to be useful for estimation of pulmonary resistance in such cases with different pulmonary resistance between right and left PA.

[A surgical case of supravalvular aortic stenosis with severe hypoplastic ascending aorta (diffuse type) in Williams-Beuren syndrome].

We report a six-year-old boy who underwent ascending aortic reconstruction for supravalvular aortic stenosis of diffuse type associated with Williams-Beuren syndrome. The diagnosis was first made at the age of six months. Because of progressive left ventricular hypertrophy, cardiac catheterization was performed at the age of five years and showed left ventricular pressure of 200 mmHg, the ascending aortic pressure of 202 mmHg, the descending aortic pressure of 115 mmHg, and left ventricular end-diastolic volume of 33.5 ml (90% of normal). Whole ascending aorta except sinus Valsalva was severely hypoplastic, so called diffuse type of supravalvular aortic stenosis. The ascending aorta was only 6.3 mm in diameter, whereas the diameter of the aortic annulus was 20.6 mm. The ascending aortic reconstruction of Dotys type was performed from the aortic root to the distal aortic arch with a equine pericardium reinforced by Dacron velour using selective perfusion to the right bracheocepharic artery, the left common carotid artery and the right femoral artery to avoid circulatory arrest. Postoperative course was uneventful and post operative catheterization revealed left ventricular pressure of 128 mmHg, the ascending aortic pressure of 126 mmHg and the descending aortic pressure of 90 mmHg. Mild residual pressure gradient was probably due to hypoplastic descending aorta. In conclusion, patch aortic reconstruction for ascending aorta under selective cerebral perfusion for a six-year old boy can be performed without postoperative neurological complication.

Surgical treatment for adult congenital heart disease: consideration for indications and procedures

The number of the adult patients with congenital heart diseases (ACHD) continues to grow owing to improvement of surgical results and medical management. Corrective surgery for complex CHD does not always mean complete cure. It is not rare that the patients will visit the cardiology institutes because of secondary lesions due to residua or sequela in adults. Some patients with CHD remain unrepairable with different degree of heart failure and pulmonary arterial hypertension. Association of arrhythmias is common in ACHD patients and sometimes critical. We experienced 265 surgical procedures for ACHD patients at our center between 1999 and 2015. Of these procedures, palliative surgery was performed in 3%, palliation to corrective surgery in 6%, primary repair in 57%, and redo surgery in 34%. Hospital mortality within 30 days in this period was 1.1%. Surgery for ACHD patients is safe, beneficial and low-risk treatment; however, tailored procedures for the individual patient are essential to obtain the optimal quality. A comprehensive multidisciplinary approach is required to fulfill this goal.