Results 101 to 110 of about 570,477 (309)

Troponin I mutation associated with Restrictive Cardiomyopathy with mild hypertrophy

, 2020
In our study, TNNI3 gene exons were sequenced in terms to analyse the association between RCM and TNNI3 gene mutation in Indian Patients. We found a novel variant associated with severe form of restrictive cardiomyopathy with mild hypertrophy. This study
Rao, V (via Mendeley Data)
core   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Restrictive Cardiomyopathy

, 2023
Abstract Restrictive cardiomyopathy (RCM) is a heterogeneous group of diseases characterized by a restrictive left ventricular physiology, that is, a rapid rise in ventricular pressure with only small increases in filling volumes because of increased myocardial stiffness.
Brown KN, Pendela VS, Ahmed I, Jain A, Diaz RR.   +4 more
europepmc   +2 more sources

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

A rare case of familial restrictive cardiomyopathy, with mutations in MYH7 and ABCC9 genes

Discoveries, 2019
Restrictive cardiomyopathy is the least common type of cardiomyopathy, being defined by diastolic dysfunction and often unimpaired systolic function. Restrictive cardiomyopathies can be classified as familial or non-familial.
O. Neagoe, A. Ciobanu, R. Diaconu, O. Mirea, Ionut Donoiu, C. Militaru   +5 more
semanticscholar   +1 more source

Refining a preclinical model of viral myocarditis in accordance with biotech standards

Animal Models and Experimental Medicine, EarlyView.
This study aimed to refine a murine model of Coxsackievirus B3‐induced myocarditis by integrating dietary and imaging innovations to improve animal welfare, data quality, and clinical applicability. The refined diet significantly reduced animal health burden, reduced weight loss, and stabilized blood glucose during development of cardiac inflammation ...
Jonas Stewen, Julia Riedesel, Juliane Stein, Brandon H. Greene, Svenja Rohde, Sonja Suess, Bjoern Keiner, Priya Panjwani, Padmapriya Ponnuswamy, Juan E. Camacho Londoño   +9 more
wiley   +1 more source

Pediatric cardiomyopathy in a resource-limited setting: clinical characteristics and determinants of medium-term outcomes

Frontiers in Medicine
Background and AimsPediatric cardiomyopathy is the leading indication for cardiac transplantation in children. However, data on its prevalence and outcomes mainly comes from developed countries, with only a scarce amount of information about its status ...
Ghina Fakhri, Rana Zareef, Nour Younis, Nour Abdul Halim, Jad Abdul Khalek, Adham Makarem, Rand Ibrahim, Mohammed Ahmed, Fadi Fuad Bitar, Mariam Toufic Arabi   +9 more
doaj   +1 more source

Inherited Cardiomyopathies and the Role of Mutations in Non-coding Regions of the Genome

Frontiers in Cardiovascular Medicine, 2018
Cardiomyopathies (CMs) are a group of cardiac pathologies caused by an intrinsic defect within the myocardium. The relative contribution of genetic mutations in the pathogenesis of certain CMs, such as hypertrophic cardiomyopathy (HCM), arrythmogenic ...
Oday F. Salman, Hebah M. El-Rayess, Charbel Abi Khalil, Georges Nemer, Marwan M. Refaat, Marwan M. Refaat   +5 more
doaj   +1 more source

Cytokine Pathways Driving Diverse Tissue Pathologies in Rheumatoid Arthritis

Arthritis &Rheumatology, EarlyView.
Rheumatoid arthritis (RA) is a complex systemic disorder characterized primarily by articular inflammation and destruction with associated functional loss and reduced quality of life. RA is also associated with extra‐articular disease, such as that of the lung, with potentially devastating clinical consequences. The critical importance of comorbidities,
Aurelie Najm, Lyn D. Ferguson, Iain B. McInnes   +2 more
wiley   +1 more source

Cardiac amyloidosis: a challenging diagnosis

Autopsy and Case Reports, 2014
Cardiovascular involvement of amyloidosis is present in 90% of cases, which is frequently associated with the primary form of the disease (AL amyloidosis).
Graziele Cristina Palancio Morais, Marjorie Moreira Arruda, José Carlos de Aguiar Bonadia, Geanete Pozzan   +3 more
doaj   +1 more source