Usefulness and cost effectiveness of cardiovascular screening of young adolescents.

OBJECTIVES: This study was conducted to assess the usefulness of a screening system for cardiovascular disease in Kagoshima, Japan, and to compare its cost-effectiveness with that of a similar system reported in the United States. BACKGROUND: Preparticipation screening of young athletes has been implemented in many countries to prevent sudden death, but sudden death in young nonathletes remains a problem. In Japan, both athletes and nonathletes have been screened for the presence or absence of cardiovascular diseases for more than 20 yr. METHODS: From 1989 to 1997, all seventh graders in schools in Kagoshima, Japan, were screened for cardiovascular disease using a questionnaire and electrocardiogram before physical examination. They were screened again in the same way 3 yr later. One subject newly diagnosed with cardiovascular disease and recommended to limit athletic participation was defined as "high-risk." Situations leading to cases of sudden death were verified with a report from the school in question. RESULTS: Of the initial study population, 99% participated in the program every year. A total of 37,807 subjects, including nine high-risk subjects, were evaluated consecutively for 6 yr. Of these nine subjects, six, including three patients with hypertrophic cardiomyopathy, were nonathletes. Three sudden deaths occurred during the study period; one student was from the high-risk group. The cost of this screening system was lower than that reported in the United States. CONCLUSIONS: Population-based screening for heart disease in this age range is limited by various factors. To analyze the mechanisms of sudden death in adolescents, we, therefore, are in need of a nationwide registry that includes autopsies for all deadly events.

Prevalence and time of appearance of Brugada electrocardiographic pattern in young male adolescents from a three-year follow-up study.

The prevalence of Brugada's electrocardiographic (ECG) pattern in 7,022 male adolescents in the seventh grade was determined, and the same subjects were reexamined 3 years later, while in tenth grade. Two subjects (0.03%) and 7 subjects (0.10%) showed Brugada's ECG pattern by the conventional criterion (J point or ST-segment >/=0.1 mV in leads V(1) to V(3)), and no subjects (0%) and 2 subjects (0.03%) fulfilled the recent criterion (J point or ST-segment >/=0.2 mV) in the seventh and tenth grades, respectively, indicating that Brugada's ECG pattern begins to appear during junior high school and increases until late adulthood.

Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly.

MRE11 and NBS1 function together as components of a MRE11/RAD50/NBS1 protein complex, however deficiency of either protein does not result in the same clinical features. Mutations in the NBN gene underlie Nijmegen breakage syndrome (NBS), a chromosomal instability syndrome characterized by microcephaly, bird-like faces, growth and mental retardation, and cellular radiosensitivity. Additionally, mutations in the MRE11A gene are known to lead to an ataxia-telangiectasia-like disorder (ATLD), a late-onset, slowly progressive variant of ataxia-telangiectasia without microcephaly. Here we describe two unrelated patients with NBS-like severe microcephaly (head circumference -10.2 SD and -12.8 SD) and mutations in the MRE11A gene. Both patients were compound heterozygotes for a truncating or missense mutation and carried a translationally silent mutation. The truncating and missense mutations were assumed to be functionally debilitating. The translationally silent mutation common to both patients had an effect on splicing efficiency resulting in reduced but normal MRE11 protein. Their levels of radiation-induced activation of ATM were higher than those in ATLD cells.

Phenotypic spectrum of CHARGE syndrome with CHD7 mutations.

CHD7 gene mutations were identified in 17 (71%) of 24 children clinically diagnosed to have CHARGE syndrome (C, coloboma of the iris or retina; H, heart defects; A, atresia of the choanae; R, retardation of growth and/or development; G, genital anomalies; and E, ear abnormalities). Colobomata, hearing loss, laryngomalacia, and vestibulo-cochlear defect were prevalent. Molecular testing for CHD7 enables an accurate diagnosis and provides health anticipatory guidance and genetic counseling to families with CHARGE syndrome.