Hereditary QT Prolongation Syndrome in Japan : Genetic Analysis and Pathological Findings of the Conducting System : II. Heart Diseases Mostly Ascertained at Later Stage : SYMPOSIUM ON GENE-ENVIRONMENT INTERACTION IN CARDIOVASCULAR DISEASES

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The hereditary QT prolongation syndrome in Japan was reviewed and some genetic analysis was performed with cooperation of doctors who had reported the cases with the syndrome. Pathological findings of the conducting system of my own two cases were demonstrated. Seven cases with Jervell and Lange-Nielsen syndrome were reported in Japan. Although no consanguineous marriage was evident in any cases, the autosomal recessive inheritance was suggested. An incidence of 5 among 1336 deaf-mute pupils was obtained by two epidemiological surveys. Twenty-eight families with Romano-Ward syndrome in Japan were collected according to the criteria used in this study. One hundred eighty-nine individuals (69 males and 120 females) of 28 families who belong to the affected kindreds were examined with electrocardiograms and history taking. These were 120 affected (63.5%) among 189 cases, 6 with QT prolongation, syncopal attack, and sudden death, 40 with QT prolongation an syncopal attack, and 74 with QT prolongation only. Penetrance of the character form affected parents to his (her) offspring was calculated to be about 100%, supporting the concept that the inheritance of Romano-Ward syndrome is a simple autosomal dominance. On the other hand, penetrance of the character from affected individuals or sibships to their parents was calculated to be a little less than 90%, suggesting that some of affected cases might lose the character of Romano-Ward syndrome as they grow older. Segregation analysis also supported an autosomal dominant inheritance. Definite sex difference was found in Romano-Ward syndrome in two aspects. One was observed in the incidence of the affected individuals. Twenty-nine (42.0%) of 69 males were affected, while 91 (75.8%) of 120 females. Furthermore, among 28 probands, 26 were female and only 2 were male. Another sex difference was found in the expressivity or in the severity of the clinical features. Extent of QT prolongation was much more marked in the females than in the males. Most male cases developed their first syncopal attack before the age of 15, while more than half of the females at of after the age of 15 years, again demonstrating sex difference in Romano-Ward syndrome. In the two autopsied cases marked enlargement and degeneration of the ventricular Purkinje cells were observed which could be responsible for QT prolongation, the abnormality of the repolarization process somewhere in the ventricle.
1978-11-20

Hereditary QT Prolongation Syndrome in Japan : Genetic Analysis and Pathological Findings of the Conducting System : II. Heart Diseases Mostly Ascertained at Later Stage : SYMPOSIUM ON GENE-ENVIRONMENT INTERACTION IN CARDIOVASCULAR DISEASES

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