3.8 Article

Clinical Exome Sequencing Revealed a De Novo FLNC Mutation in a Child with Restrictive Cardiomyopathy

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Cardiac & Cardiovascular Systems

Outcomes of Restrictive Cardiomyopathy in Japanese Children

Hiroki Mori et al.

Summary: This retrospective multicentered study aimed to investigate the long-term survival rate of pediatric patients with restrictive cardiomyopathy (RCM) in Japan. The results showed that the prognosis of pediatric RCM is poor and the heart transplantation rate is low in Japan.

CIRCULATION JOURNAL (2022)

Review Pediatrics

Pediatric Restrictive Cardiomyopathies

Raffaello Ditaranto et al.

Summary: Restrictive cardiomyopathy (RCM) is a rare type of pediatric heart muscle disease with poor prognosis and high incidence of complications. Heart transplantation is the only effective treatment option. Although RCM has shared hemodynamic characteristics, the causes and natural course vary.

FRONTIERS IN PEDIATRICS (2022)

Article Cardiac & Cardiovascular Systems

Filamin C in cardiomyopathy: from physiological roles to DNA variants

Shen Song et al.

Summary: Cardiomyopathy is a common disease affecting approximately 1 in 500 adults, with Filamin C playing a critical role in sarcomere stability maintenance and its mutations implicated in the pathogenesis of cardiomyopathy. Truncated and non-truncated FLNC variants are associated with different types of cardiomyopathies. Understanding the molecular mechanisms of FLNC-related cardiomyopathy is crucial in developing new therapies for patients with this condition.

HEART FAILURE REVIEWS (2022)

Review Medicine, General & Internal

Genetic Insights into Primary Restrictive Cardiomyopathy

Andreas Brodehl et al.

Summary: Restrictive cardiomyopathy is a rare cardiac disease with poor clinical prognosis, and there is still limited understanding of its genetic forms and molecular mechanisms.

JOURNAL OF CLINICAL MEDICINE (2022)

Article Cardiac & Cardiovascular Systems

Overview of pediatric restrictive cardiomyopathy - 2021

Susan W. Denfield

Summary: Restrictive cardiomyopathy is a rare form of cardiomyopathy in children, with current therapies only addressing symptoms rather than the underlying mechanisms, resulting in a poor prognosis. Development of mechanism-based medical therapies is needed to improve the physiology and outcomes of these diseases.

PROGRESS IN PEDIATRIC CARDIOLOGY (2021)

Review Medicine, General & Internal

Cardiac Filaminopathies: Illuminating the Divergent Role of Filamin C Mutations in Human Cardiomyopathy

Matthias Eden et al.

Summary: Recent advances in understanding genetic alterations in various genes have shed light on the complex nature of cardiac diseases, potentially aiding in identifying high-risk patients and developing personalized therapies.

JOURNAL OF CLINICAL MEDICINE (2021)

Letter Cardiac & Cardiovascular Systems

Missense Mutations in the FLNC Gene Causing Familial Restrictive Cardiomyopathy Growing Evidence

Alvaro Roldan-Sevilla et al.

CIRCULATION-GENOMIC AND PRECISION MEDICINE (2019)

Article Cardiac & Cardiovascular Systems

Idiopathic Restrictive Cardiomyopathy in Children and Young Adults

Heather N. Anderson et al.

AMERICAN JOURNAL OF CARDIOLOGY (2018)

Article Cardiac & Cardiovascular Systems

Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline

Ray E. Hershberger et al.

JOURNAL OF CARDIAC FAILURE (2018)

Article Genetics & Heredity

Genetic background of Japanese patients with pediatric hypertrophic and restrictive cardiomyopathy

Takeharu Hayashi et al.

JOURNAL OF HUMAN GENETICS (2018)

Article Genetics & Heredity

Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathy

Jeffrey Schubert et al.

HUMAN MUTATION (2018)

Article Cardiac & Cardiovascular Systems

Pediatric Cardiomyopathies

Teresa M. Lee et al.

CIRCULATION RESEARCH (2017)

Article Cardiac & Cardiovascular Systems

Restrictive Cardiomyopathy Genetics, Pathogenesis, Clinical Manifestations, Diagnosis, and Therapy

Eli Muchtar et al.

CIRCULATION RESEARCH (2017)

Article Genetics & Heredity

Evidence for Troponin C (TNNC1) as a Gene for Autosomal Recessive Restrictive Cardiomyopathy with Fatal Outcome in Infancy

Rafal Ploski et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2016)

Article Genetics & Heredity

Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy

Andreas Brodehl et al.

HUMAN MUTATION (2016)

Article Cardiac & Cardiovascular Systems

Truncating FLNC Mutations Are Associated With High-Risk Dilated and Arrhythmogenic Cardiomyopathies

Martin F. Ortiz-Genga et al.

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY (2016)

Article Cardiac & Cardiovascular Systems

Inherited Cardiomyopathies

Jeffrey A. Towbin

CIRCULATION JOURNAL (2014)

Article Cardiac & Cardiovascular Systems

Restrictive Cardiomyopathy in Childhood

Susan W. Denfield et al.

Heart Failure Clinics (2010)

Article Medicine, General & Internal

Desmin myopathy, a skeletal myopathy with cardiomyopathy caused by mutations in the desmin gene.

MC Dalakas et al.

NEW ENGLAND JOURNAL OF MEDICINE (2000)