Results 91 to 100 of about 347,198 (324)
Analysis of desmoplakin in arrythmogenic right ventricular cardiomyopathy
, 2010 Includes bibliographical references (leaves 71-79).It has been shown that all forms of cardiomyopathy, including the dilated, hypertrophic, restrictive, and right ventricular arrhythmogenic forms, are found in African populations.
Fish, Maryam
core
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 +2 more
wiley +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 +5 more
doaj +1 more source
BMC Medical Genetics, 2019 BackgroundRestrictive cardiomyopathy is a rare cardiac disease, for which several genes including TNNT2, MYPN, FLNC and TNNI3 have been associated with its familial form.Case presentationHere we describe a female proband with a severely manifested ...
M. Pantou +8 more
semanticscholar +1 more source
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
Isolated ventricular non-compaction with restrictive cardiomyopathy.
, 2006 A 42-year-old man with chronic heart failure and permanent atrial fibrillation was referred to our cardiology institute for diagnostic assessment and therapy. The patient denied any known family history of heart disease.
FERLITO, MARINELLA +5 more
core +1 more source
Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll +2 more
wiley +1 more source
ClinicsOBJECTIVES: To investigate the association between diastolic function and the different beneficial effects of cardiac resynchronization therapy in patients with heart failure due to different causes.
Qi Wang +8 more
doaj +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 +3 more
doaj +1 more source
De novo mutations in FLNC leading to early‐onset restrictive cardiomyopathy and congenital myopathy
Human Mutation, 2018 Mutations in FLNC for a long time are known in connection to neuromuscular disorders and only recently were described in association with various cardiomyopathies.
A. Kiselev +18 more
semanticscholar +1 more source