Literature DB >> 30206291

Clinical and genetic backgrounds of hypertrophic cardiomyopathy with mid-ventricular obstruction.

Natsuko Inagaki1,2, Takeharu Hayashi3, Yasuyoshi Takei1, Kousuke Tanimoto4, Taishiro Chikamori1, Akinori Kimura5.   

Abstract

Hypertrophic cardiomyopathy (HCM) is characterized by unexplained left ventricular hypertrophy. This study aimed to reveal the clinical and genetic backgrounds of the unique HCM with mid-ventricular obstruction (HCM-MVO) subtype. We identified 34 patients with HCM-MVO in our cohort, and about half (47%) of these patients experienced adverse events. We analyzed 67 cardiomyopathy-associated genes in the patients. In total, 44% of patients with HCM-MVO carried the cardiomyopathy-associated genetic variant (CAGV) in 14 genes. Only 21% of patients carried HCM-associated CAGVs in major sarcomere-encoding genes, while 18% of patients carried CAGVs in dilated cardiomyopathy/arrhythmogenic right ventricular cardiomyopathy-associated genes. CAGVs were more frequent in patients with asymmetric septal hypertrophy (ASH) than in those without ASH. These findings suggest that HCM-MVO is a high-risk group and may have different etiologies from typical HCM.

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Mesh：

Year:  2018        PMID： 30206291     DOI： 10.1038/s10038-018-0509-9

Source DB:  PubMed          Journal:  J Hum Genet        ISSN： 1434-5161            Impact factor:   3.172


  10 in total

1.  Clinical implications of midventricular obstruction in patients with hypertrophic cardiomyopathy.

Authors:  Yuichiro Minami; Katsuya Kajimoto; Yutaka Terajima; Bun Yashiro; Dai Okayama; Shintaro Haruki; Takatomo Nakajima; Naomi Kawashiro; Masatoshi Kawana; Nobuhisa Hagiwara
Journal:  J Am Coll Cardiol       Date:  2011-06-07       Impact factor: 24.094

2.  2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines.

Authors:  Bernard J Gersh; Barry J Maron; Robert O Bonow; Joseph A Dearani; Michael A Fifer; Mark S Link; Srihari S Naidu; Rick A Nishimura; Steve R Ommen; Harry Rakowski; Christine E Seidman; Jeffrey A Towbin; James E Udelson; Clyde W Yancy
Journal:  Circulation       Date:  2011-11-08       Impact factor: 29.690

Review 3.  Hypertrophic Cardiomyopathy: Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy.

Authors:  Ali J Marian; Eugene Braunwald
Journal:  Circ Res       Date:  2017-09-15       Impact factor: 17.367

4.  Genetic background of Japanese patients with pediatric hypertrophic and restrictive cardiomyopathy.

Authors:  Takeharu Hayashi; Kousuke Tanimoto; Kayoko Hirayama-Yamada; Etsuko Tsuda; Mamoru Ayusawa; Shinichi Nunoda; Akira Hosaki; Akinori Kimura
Journal:  J Hum Genet       Date:  2018-06-15       Impact factor: 3.172

5.  Clinical characteristics and natural history of hypertrophic cardiomyopathy with midventricular obstruction.

Authors:  Georgios K Efthimiadis; Efstathios D Pagourelias; Despoina Parcharidou; Thomas Gossios; Vasileios Kamperidis; Efstratios K Theofilogiannakos; Zoi Pappa; Soultana Meditskou; Stavros Hadjimiltiades; Christodoulos Pliakos; Haralampos Karvounis; Ioannis H Styliadis
Journal:  Circ J       Date:  2013-05-31       Impact factor: 2.993

6.  Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Authors:  Sue Richards; Nazneen Aziz; Sherri Bale; David Bick; Soma Das; Julie Gastier-Foster; Wayne W Grody; Madhuri Hegde; Elaine Lyon; Elaine Spector; Karl Voelkerding; Heidi L Rehm
Journal:  Genet Med       Date:  2015-03-05       Impact factor: 8.822

7.  A global reference for human genetic variation.

Authors:  Adam Auton; Lisa D Brooks; Richard M Durbin; Erik P Garrison; Hyun Min Kang; Jan O Korbel; Jonathan L Marchini; Shane McCarthy; Gil A McVean; Gonçalo R Abecasis
Journal:  Nature       Date:  2015-10-01       Impact factor: 49.962

8.  Human genetic variation database, a reference database of genetic variations in the Japanese population.

Authors:  Koichiro Higasa; Noriko Miyake; Jun Yoshimura; Kohji Okamura; Tetsuya Niihori; Hirotomo Saitsu; Koichiro Doi; Masakazu Shimizu; Kazuhiko Nakabayashi; Yoko Aoki; Yoshinori Tsurusaki; Shinichi Morishita; Takahisa Kawaguchi; Osuke Migita; Keiko Nakayama; Mitsuko Nakashima; Jun Mitsui; Maiko Narahara; Keiko Hayashi; Ryo Funayama; Daisuke Yamaguchi; Hiroyuki Ishiura; Wen-Ya Ko; Kenichiro Hata; Takeshi Nagashima; Ryo Yamada; Yoichi Matsubara; Akihiro Umezawa; Shoji Tsuji; Naomichi Matsumoto; Fumihiko Matsuda
Journal:  J Hum Genet       Date:  2016-02-25       Impact factor: 3.172

9.  Analysis of protein-coding genetic variation in 60,706 humans.

Authors:  Monkol Lek; Konrad J Karczewski; Eric V Minikel; Kaitlin E Samocha; Eric Banks; Timothy Fennell; Anne H O'Donnell-Luria; James S Ware; Andrew J Hill; Beryl B Cummings; Taru Tukiainen; Daniel P Birnbaum; Jack A Kosmicki; Laramie E Duncan; Karol Estrada; Fengmei Zhao; James Zou; Emma Pierce-Hoffman; Joanne Berghout; David N Cooper; Nicole Deflaux; Mark DePristo; Ron Do; Jason Flannick; Menachem Fromer; Laura Gauthier; Jackie Goldstein; Namrata Gupta; Daniel Howrigan; Adam Kiezun; Mitja I Kurki; Ami Levy Moonshine; Pradeep Natarajan; Lorena Orozco; Gina M Peloso; Ryan Poplin; Manuel A Rivas; Valentin Ruano-Rubio; Samuel A Rose; Douglas M Ruderfer; Khalid Shakir; Peter D Stenson; Christine Stevens; Brett P Thomas; Grace Tiao; Maria T Tusie-Luna; Ben Weisburd; Hong-Hee Won; Dongmei Yu; David M Altshuler; Diego Ardissino; Michael Boehnke; John Danesh; Stacey Donnelly; Roberto Elosua; Jose C Florez; Stacey B Gabriel; Gad Getz; Stephen J Glatt; Christina M Hultman; Sekar Kathiresan; Markku Laakso; Steven McCarroll; Mark I McCarthy; Dermot McGovern; Ruth McPherson; Benjamin M Neale; Aarno Palotie; Shaun M Purcell; Danish Saleheen; Jeremiah M Scharf; Pamela Sklar; Patrick F Sullivan; Jaakko Tuomilehto; Ming T Tsuang; Hugh C Watkins; James G Wilson; Mark J Daly; Daniel G MacArthur
Journal:  Nature       Date:  2016-08-18       Impact factor: 49.962

Review 10.  Genetic cardiomyopathies causing heart failure.

Authors:  Thomas J Cahill; Houman Ashrafian; Hugh Watkins
Journal:  Circ Res       Date:  2013-08-30       Impact factor: 17.367
  10 in total

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