Eiji Morihana

Detectable Silent Calcification in a Regressed Coronary Artery Aneurysm of a Young Adult with a History of Kawasaki Disease

Kawasaki disease is characterized as self-limited vasculites during infancy and childhood. The involvement of coronary arteries occurs in 15% to 20% of patients with Kawasaki disease during the acute phase of the illness [9]. Serial studies of coronary angiography demonstrate that the majority of small to moderate-size coronary artery aneurysms tend to regress within several years. However, large coronary arterial lesions progress to stenosis, complete obstruction, intraarterial thrombi, or calcification, which can lead to fatal myocardial ischemia [2, 3]. Dadlani et al. [4, 5] demonstrated that electron beam computed tomography (CT) could show the evidence of coronary artery calcifications in patients with Kawasaki disease. This imaging method detected coronary artery calcifications in patients with residual coronary arterial lesions, but not in those without such lesions in the longterm follow-up evaluation of Kawasaki disease. We present a case of a young adult with a history of Kawasaki disease in whom coronary artery calcification in a regressed coronary arterial lesion was shown by multislice spiral computed tomography (MSCT). Case Report

Surgical strategy according to the anatomical types of congenital portosystemic shunts in children

BACKGROUND Congenital portosystemic shunts (CPSS) with intrahepatic portal vein (IHPV) hypoplasia or absence cause encephalopathy or pulmonary hypertension (PH). Acute shunt closure may result in postoperative portal hypertension. The aim of this study was to propose a surgical strategy according to the anatomical types of CPSS and IHPV. METHODS Twenty-three CPSS patients were diagnosed from1990 to 2015. All patients were evaluated by computed tomography, angiography, and PV pressure monitoring under a shunt occlusion test. CPSS were categorized into 5 types according to the anatomical shunt location. RESULTS The median age at diagnosis was 34months. Three of 23 total patients, who had an extrahepatic portosystemic shunt with a hypoplastic IHPV, died before treatment initiation because of severe PH. Fourteen cases received surgical or interventional treatment at the median age of 5years. A total of 6 cases received surgical therapy, including liver transplants for 2 absent IHPV cases. The remaining 8 cases received interventional coiling. All shunt ligations were successfully accomplished in 1-stage ligation without any complications. After the treatment, the hypoplastic IHPV gradually enlarged with an efficient portal inflow. CONCLUSION A precise pretreatment anatomical evaluation of CPSS and IHPV types is mandatory for the selection of surgical treatment. LEVEL OF EVIDENCE Diagnostic study - level II and treatment study - level III.

Early progression of atherosclerosis in children with chronic infantile neurological cutaneous and articular syndrome

OBJECTIVE Chronic inflammation plays a key role in the development of atherosclerosis. Early progression of atherosclerosis has been reported in patients with RA. Cryopyrin-associated periodic syndromes (CAPS) are autosomal dominant autoinflammatory disorders caused by heterozygous NLRP3 gene mutations. Chronic infantile neurological cutaneous and articular (CINCA) syndrome is the most severe form of CAPS and patients display early onset of rash, fever, uveitis and joint manifestations. However, there has been no previous report on atherosclerosis in patients with CAPS. The objective of this study is to assess the development of atherosclerosis in patients with CINCA syndrome. METHODS Intima-media thickness (IMT) of the carotid arteries, stiffness parameter β, ankle brachial index (ABI) and pressure wave velocity (PWV) were evaluated by ultrasonography in 3 patients with CINCA syndrome [mean age 9.0 years (S.D. 5.3)] and 19 age-matched healthy controls [9.3 years (S.D. 4.3)]. RESULTS The levels of carotid IMT, stiffness parameter β and PWV in CINCA syndrome patients were significantly higher than those in healthy controls [0.51 mm (S.D. 0.05) vs 0.44 (0.04), P = 0.0021; 6.1 (S.D. 1.7) vs 3.9 (1.0), P = 0.0018; 1203 cm/s (S.D. 328) vs 855 (114), P = 0.017, respectively]. CONCLUSION Patients with CINCA syndrome showed signs of atherosclerosis from their early childhood. The results of this study emphasize the importance of chronic inflammation in the development of atherosclerosis. Further analysis on atherosclerosis in young patients with CINCA syndrome may provide more insights into the pathogenesis of cardiovascular disease.

Effective shunt closure for pulmonary hypertension and liver dysfunction in congenital portosystemic venous shunt

Congenital portosystemic venous shunt (CPSVS) is a rare vascular malformation with a high risk of mortality from pulmonary arterial hypertension (PAH), but the treatment outcome of CPSVS closure remains elusive. Our aim was to investigate the clinical features and establish the optimal management of CPSVS with or without PAH.

Cancer management in kabuki syndrome: The first case of wilms tumor and a literature review

A 3-year-old Japanese girl treated for hypoplastic left heart syndrome and Dandy-Walker syndrome was diagnosed with Kabuki syndrome (KS) with a mutation of KMT2D; c.13285C>T:p.Q4429*. Concurrently, macrohematuria portended the diagnosis of Wilms tumor. Postoperative chemotherapy has achieved complete remission despite a prolonged and reduced regimen due to liver dysfunction and convulsions. Cancer predisposition has been suggested for KS due to oncogenic mutations in KMT2D or KDM6A. The first case of nephroblastoma exemplified the treatability of malignancies in KS patients, as shown in the 9 cases reviewed. Active screening and intervention are recommended for the cure of malignancy in KS children.

High incidence of progressive stenosis in aberrant left subclavian artery with right aortic arch

Right aortic arch with aberrant left subclavian artery (RAA/aLSCA) is a rare aortic arch anomaly. The clinical association of aLSCA stenosis with RAA/aLSCA has not yet been fully elucidated. The aim of this study was to investigate the diagnosis, incidence, management and outcome of aLSCA stenosis in infants with prenatally diagnosed RAA/aLSCA. Ten fetuses who were diagnosed as having RAA/aLSCA in Kyushu University Hospital between January 2011 and December 2014 were enrolled. The maternal and child medical records were reviewed to investigate sex, gestational age at the fetal diagnosis, gestational age and body weight at birth, the findings of computed tomography (CT), Doppler ultrasonography of the vertebral artery and angiography, and the complications and outcomes of aLSCA stenosis. In 8 of 10 patients, aLSCA stenosis was identified on the first CT examination after birth. No patients had dysphagia or respiratory distress. The stenosis spontaneously resolved in 3 patients. In 4 of the 5 remaining patients, aLSCA stenosis progressed, including one case in which complete occlusion occurred—the case was associated with retrograde flow from the left vertebral artery supplying the distal LSCA. Balloon angioplasty was successfully used to treat stenosis in two cases. The subclavian steal phenomenon and developmental problems were not observed in any patients. aLSCA stenosis was identified in 80% of patients with RAA/aLSCA after birth. The early detection and elective treatment of stenotic lesions may be required to prevent complete occlusion during the development of the cardiovascular and cerebrovascular systems.

Management of congenital diaphragmatic hernia with transposition of the great arteries

Congenital diaphragmatic hernia (CDH) is a relatively rare malformation, but it has a high mortality rate. Its association with congenital heart disease lowers survival rate due to severe acidosis and desaturation caused by persistent pulmonary hypertension of the neonate. We describe herein a case of CDH with transposition of the great arteries and intact ventricular septum, in a patient who was prenatally diagnosed, managed with extracorporeal oxygenation (ECMO) support and successfully treated with both CDH repair and Jatene procedure, with no respiratory or circulatory sequelae. In conclusion, precise prenatal estimation is essential, and ECMO is a useful therapeutic option in these complex cases.

Is Metastatic Rhabdomyosarcoma an Indication for Cardioverter Defibrillator Implantation

To the Editor: Cardiac tumors, 95.7%of which aremetastatic,[1] can trigger life-threatening arrhythmias, such as ventricular fibrillation (VF).[2] International guidelines strongly recommend an implantable cardioverter defibrillator (ICD) for secondary prevention of VF, but only for those patients with a reasonable expectation of survival >1 year.[3,4] Metastatic heart tumors, particularly sarcomas, have a poor prognosis of approximately 6 months;[5,6] therefore, it is unclear whether patients with metastatic sarcomas who have experienced VF should be offered ICD implantation. We report the case of a 22-year-old male with a history of alveolar rhabdomyosarcoma of the left ethmoid sinus with multiple metastases who had complete remission after treatment with radiochemotherapy at 18 years of age. He presented with dyspnea and fatigue. Ultrasonography revealed severe pericardial effusion, and contrast-enhanced computed tomography showed a tumor located in the left ventricle (Fig. 1A). Pericardiocentesis revealed desmin-positive malignant cells, characteristic of rhabdomyosarcoma. The patient received chemotherapy for 3 days. On day 7, he developedVF andwas resuscitated 8min after the cardiac arrest with no neurologic sequelae. ICD was placed on day 24, and a subsequent tomography scan showed tumor shrinkage, indicating that the chemotherapy was effective (Fig. 1B). Eight months after implantation, the patient currently receives periodic chemotherapy, and no relapse of the cardiac tamponade or life-threatening arrhythmia has been observed. A pathologic series focusing on soft tissue sarcomas found that 25% of patients had cardiac metastases at autopsy,

Cardiovascular Malformations in CHARGE Syndrome with DiGeorge Phenotype: Two Case Reports

Both CHARGE syndrome and DiGeorge anomaly are frequently accompanied by cardiovascular malformations. Some specific cardiovascular malformations such as interrupted aortic arch type B and truncus arteriosus are frequently associated with 22q11.2 deletion syndrome, while conotruncal defects and atrioventricular septal defects are overrepresented in patients with CHARGE syndrome. CHD7 gene mutation is identified in approximately two-thirds of patients with CHARGE syndrome, and chromosomal microdeletion at 22q11.2 is found in more than 95% of patients with 22q11.2 deletion syndrome. CHARGE syndrome is occasionally accompanied by DiGeorge phenotype. We report two patients with dysmorphic features of both CHARGE syndrome and 22q11.2 deletion syndrome. Although both of the two cases did not have 22q11.2 deletion, they had typical dysmorphic features of 22q11.2 deletion syndrome including cardiovascular malformations such as interrupted aortic arch type B. They also had characteristic features of CHARGE syndrome including ear malformation, genital hypoplasia, limb malformation, and endocrinological disorders. CHD7 gene mutation was confirmed in one of the two cases. When a patient with cardiovascular malformations frequently associated with 22q11.2 deletion syndrome does not have 22q11.2 deletion, we suggest that associated malformations characteristic of CHARGE syndrome should be searched for.