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Case Report: Filamin C gene mutation associated with restrictive cardiomyopathy leading to heart transplantation.
Front Transplant
December 2024
Pediatric Cardiology and Adult with Congenital Heart Disease Unit, Instituto do Coração (InCor) do Hospital das Clinicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Background: Cardiomyopathy is a disease that affects the myocardium and can be classified as dilated, restrictive, or hypertrophic cardiomyopathy. Among the subtypes, restrictive cardiomyopathy is characterized by restriction of ventricular filling and its uncommon cause is a disease due to mutation on Filamin C (FLNC) gene. Filamin C is an actin-binding protein encoded by FLNC gene and participates in sarcomere stability maintenance, which is expressed on the striated muscle.
View Article and Find Full Text PDFIntroduction: Advancements in sequencing technologies have significantly improved clinical genetic testing, yet the diagnostic yield remains around 30-40%. Emerging sequencing technologies are now being deployed in the clinical setting to address the remaining diagnostic gap.
Methods: We tested whether short-read genome sequencing could increase diagnostic yield in individuals enrolled into the UCI-GREGoR research study, who had suspected Mendelian conditions and prior inconclusive clinical genetic testing.
Comprehensive analysis of scRNA-seq and bulk RNA-seq reveals the non-cardiomyocytes heterogeneity and novel cell populations in dilated cardiomyopathy.
J Transl Med
January 2025
State Key Laboratory of Cardiovascular Diseases and Medical Innovation Center, School of Medicine, Shanghai East Hospital, Tongji University, Shanghai, 200120, China.
Background: Dilated cardiomyopathy (DCM) is one of the most common causes of heart failure. Infiltration and alterations in non-cardiomyocytes of the human heart involve crucially in the occurrence of DCM and associated immunotherapeutic approaches.
Methods: We constructed a single-cell transcriptional atlas of DCM and normal patients.
[Pediatric cardiac allograft transplantation: a clinicopathological study of twelve recipient hearts].
Zhonghua Bing Li Xue Za Zhi
January 2025
Department of Pathology, the Seventh Medical Center of People's Liberation Army of China General Hospital, Beijing100700, China.
To analyze the morphologic changes and the extent of severity in end-stage heart disease; and to explore the correlation with their clinical features. Twelve cases of recipients who underwent pediatric cardiac allograft transplantation were collected from May 2022 to November 2023 at the Seventh Medical Center of People's Liberation Army of China General Hospital. Gross pathologic examinations were performed and morphological changes were observed under a light microscope after HE, Masson's trichrome, and reticulin staining.
View Article and Find Full Text PDFMutation in and a Variant Linked to a Severe Sporadic Infant Dilated Cardiomyopathy Case.
Case Rep Genet
December 2024
Cardiovascular Research Department, Lankenau Institute for Medical Research, Lankenau Hearth Institute, Wynnewood, Pennsylvania 19096, USA.
Structural or electrophysiologic cardiac anomalies may compromise cardiac function, leading to sudden cardiac death (SCD). Genetic screening of families with severe cardiomyopathies underlines the role of genetic variations in cardiac-specific genes. The present study details the clinical and genetic characterization of a malignant dilated cardiomyopathy (DCM) case in a 1-year-old Mexican child who presented a severe left ventricular dilation and dysfunction that led to SCD.
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