日本小児循環器学会雑誌 Pediatric Cardiology and Cardiac Surgery

Online ISSN: 2187-2988 Print ISSN: 0911-1794
特定非営利活動法人日本小児循環器学会 Japanese Society of Pediatric Cardiology and Cardiac Surgery
〒162-0801東京都新宿区山吹町358-5アカデミーセンター Japanese Society of Pediatric Cardiology and Cardiac Surgery Academy Center, 358-5 Yamabuki-cho, Shinju-ku, Tokyo 162-0801, Japan
Pediatric Cardiology and Cardiac Surgery 34(3): 111-120 (2018)
doi:10.9794/jspccs.34.111

ReviewReview

ここまで知っておきたい心筋症:解剖から分子医学までCardiomyopathies: From Anatomy to Molecular Medicine

富山大学医学部小児科Department of Pediatrics, Toyama University Hospital ◇ Toyama, Japan

発行日:2018年9月1日Published: September 1, 2018
HTMLPDFEPUB3

心筋症とは,心筋の器質的あるいは電気的異常を有する多様な疾患群と定義され,原因はしばしば遺伝性である.主な病変が心臓にあるものを一次性心筋症,全身疾患の心筋病変を二次性心筋症と大別される.小児の心筋症では様々な遺伝子に様々な変異があり,遺伝的多様性が特徴である.遺伝形式も常染色体顕性,常染色体潜性,X連鎖性,ミトコンドリア性と様々である.遺伝性心筋症の特徴として,同一遺伝子内の異なる変異は異なる病型を示すこと,遺伝子変異の多くが稀で同一のホットスポットや変異を有することは稀であること,同一の家族内でも様々な浸透率を示すことが挙げられる.また,同一の遺伝子変異を有していたとしても,臨床経過,転帰は同一家族内でも様々である.家族を含めた遺伝学的検査を行うことが重要であり,今後のさらなる心筋症の病態解明が不可欠である.

Cardiomyopathies are defined as abnormalities of the ventricular myocardium. Pediatric cardiomyopathies are rare diseases. Increasingly, the importance of genetic mutations in the pathogenesis of isolated or syndromic pediatric cardiomyopathies is becoming apparent. Pediatric cardiomyopathies are genetically heterogeneous with many different causative genes and multiple mutations in each gene. Variants in the same gene can cause different phenotypes, and variants in different genes can cause the same cardiomyopathy phenotype. There are multiple modes of inheritance for cardiomyopathies, including autosomal dominant, autosomal recessive, X-linked, and mitochondrial. Published guidelines have recommended approaches for genetic testing and family screening in patients with isolated, autosomal-dominant cardiomyopathy. The increasing application of genomic analysis to the pediatric cardiomyopathy population is creating a wealth of information that requires expanded registry participation to further understanding of the pathogenic mechanisms underlying pediatric cardiomyopathies and the genetic, environmental, and other, as of yet undiscovered, modifying factors that impact the severity of disease. This compendium summarizes current knowledge of the genetic and molecular origins of the most common phenotypic presentations of pediatric cardiomyopathies and highlights key areas where additional research is required.

Key words: cardiomyopathy; gene; variant

This page was created on 2018-05-25T14:20:57.243+09:00
This page was last modified on 2018-09-11T17:27:02.59+09:00


このサイトは(株)国際文献社によって運用されています。