Sadamitsu Yanagi

Early diagnosis of Kawasaki disease in patients with cervical lymphadenopathy.

Background: Among typical patients with Kawasaki disease (KD), a few KD patients present with only fever and cervical lymphadenopathy at admission (KDL). These patients have a significant risk for misdiagnosis, delay in treatment for KD, and development of coronary artery abnormalities. Therefore, the development of an easy tool for early diagnosis in these patients is desirable.

Nemaline Myopathy With Dilated Cardiomyopathy in Childhood

We present a case of a 9-year-old boy with nemaline myopathy and dilated cardiomyopathy. The combination of nemaline myopathy and cardiomyopathy is rare, and this is the first reported case of dilated cardiomyopathy associated with childhood-onset nemaline myopathy. A novel mutation, p.W358C, in ACTA1 was detected in this patient. An unusual feature of this case was that the patient’s cardiac failure developed during early childhood with no delay of gross motor milestones. The use of a β-blocker did not improve his clinical course, and the patient died 6 months after diagnosis of dilated cardiomyopathy. Congenital nonprogressive nemaline myopathy is not necessarily a benign disorder: deterioration can occur early in the course of dilated cardiomyopathy with neuromuscular disease, and careful clinical evaluation is therefore necessary.

Single-Lobe Lung Transplantation for Rapidly Deteriorating Pulmonary Venoocclusive Disease

Pulmonary venoocclusive disease, classified as a subgroup of pulmonary arterial hypertension, is known to show poor prognosis and lung transplantation is the only possible treatment. Single living-donor lobar lung transplantation is a unique method of treatment, mostly for small children, and size matching is the most important factor to conduct single living-donor lobar lung transplantation safely. We report a successful single living-donor lobar lung transplantation for a 6-year-old girl with pulmonary venoocclusive disease who received the graft from her mother. Preoperatively, the recipient was intubated under deep sedation because of repeated episodes of pulmonary edema due to rapidly deteriorating pulmonary venoocclusive disease.

A Simple Method for Evaluating Abnormal Lengthening of the QT Interval During the Face Immersion Test

The slope of the relation between the unadjusted QT interval and heart rate during the face immersion test has been reported to be useful as an index for predicting an abnormal lengthening of the QT interval for children with nonfamilial long QT syndrome. Our goals were to determine whether we can replace the slope of the QT/heart rate relation calculated from all data with that calculated from fewer data and to determine whether we can replace the slope with the corrected QT value by heart rate (QTc value) at the minimum heart rate. We studied 19 children with a prolonged QT interval and 54 control children by using statistical analysis. The slope calculated from the selected data points (at least four) was in agreement with the slope calculated from all data, and the relationship between the slope and the QTc value at the minimum heart rate showed a high correlation. It was determined that we can replace the slope calculated from all data with that calculated from at least four data points and replace the slope with the QTc value at the minimum heart rate as an index for predicting an abnormal lengthening of the QT interval.

Familial total anomalous pulmonary venous return with 15q11.2 (BP1-BP2) microdeletion

A 15q11.2 microdeletion (BP1-BP2) is associated with congenital heart diseases (CHDs), developmental delay, and epilepsy. This deletion co-occurs with CHD in 20–30% patients, but a familial case of CHD and a 15q11.2 deletion has not been identified. Here we report the first familial (three siblings) case of total anomalous pulmonary venous return associated with 15q11.2 deletion. Array comparative genomic hybridization identified a ~395 kb deletion at 15q11.2 in patient 1. This deletion was confirmed by fluorescence in situ hybridization in patients 1 and 3 and their asymptomatic father. No deleterious mutation was identified by proband-only exome sequencing of patient 1. One healthy sibling and their mother did not carry the deletion. This deletion is often inherited from asymptomatic parents with an estimated low penetrance of 10.4%. Conversely, we observed high penetrance of this deletion, but secondary copy-number variants or pathogenic variants were not detected in this family.