| Item | Content |
|---|
| Research project name |
Research Project on the Rare / Intractable Disease |
| Study title |
Study of establishment of treatment based on varied pathogenesis of acute rupture of chordae tendineae of the mitral valve in infants |
| Name of principal investigator |
Isao Shiraishi |
| Name of institution of the principal investigator |
Department of Education and Research Promotion, National Cerebral and Cardiovascular Center |
| Target disease |
Acute rupture of chordae tendineae of the mitral valve in infants |
| Registry name |
Registry of acute rupture of chordae tendineae of the mitral valve in infants |
| Purpose of registry |
Survey of natural history, Investigation into the number or the distribution of patients, Epidemiological study, Sample collection, Genetic analysis study, Provision of information to physicians in charge
|
| Overview of registry |
As a result of retrospective nationwide MHLW Specified Disease Treatment Research Program surveys in 2010 and 2013, clinical data on 95 infants who developed acute rupture of chordae tendineae of the mitral valve in the past 16 years was obtained. The occurrence is concentrated on four to six months of age (85%), slightly more commonly observed in male infants, and highly frequent from spring to summer (66%). Overall, the number of patients is on the rise in recent years. The underlying diseases included 10 cases of Kawasaki disease, 2 cases of anti-SSA antibody-positive, and 1 case of bacterial endocarditis. Increase of CRP was mild. Surgical treatment included 52 cases (55%) of valvoplasty and 26 cases (27%) of valve replacement. There were 8 cases of death (8.4%), and central nervous system sequelae were observed in 10 patients (11%). Overall, a sequela or secondary illness was observed in 35 patients (40%), and the morbidity of this disease was extremely high. Subendocardial inflammatory cell infiltration mostly with mononuclear leukocytes were noted in the histopathological findings of the tendinous cord (21 cases). In the prospective study in 2014, frozen tissues and blood samples will be collected at onset, and the pathogenesis will be revealed by trial virus isolation from blood, pharynx, urine and feces.
|
| Research item |
Sex, Date of birth, Information about the current medical institutions of patients, Family history, Past medical history, Complication, History of present illness, History of treatment, Laboratory data, Degree of severity, Clinical course, Functional prognosis, Prognosis, Cause of death, Others (histopathological findings)
|
| Contact |
Isao Shiraishi |
| E-mail address |
shiraishi.isao.hp●ncvc.go.jp |
| Registry URL |
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* If the E-mail address is shown, replace "●" with "@", please.
