Barth syndrome cardiomyopathy
Barth syndrome: MedlinePlus Genetics
In people with Barth syndrome, the heart problems can lead to heart failure. In rare cases, the cardiomyopathy gets better over time and ...
Barth Syndrome Cardiomyopathy: An Update - PMC - NCBI
Cardiomyopathy and heart failure are the primary reasons for diagnosis and death in BTHS [4,42]. According to the report from the Barth Syndrome ...
Barth Syndrome | Boston Children's Hospital
Children with Barth syndrome can develop serious heart problems including ... heart failure, heart muscle weakness (cardiomyopathy), and serious arrhythmias.
Barth Syndrome - Symptoms, Causes, Treatment | NORD
In 1983, multiple boys from a Dutch family were reported with enlarged and weakened heart (dilated cardiomyopathy), low white blood cells ( ...
Barth Syndrome Cardiomyopathy: An Update - PubMed
Cardiomyopathy is a major clinical feature of BTHS. During the past four decades, we have witnessed many landmark discoveries that have led to a ...
Dilated cardiomyopathy, neutropenia, short stature, muscle weakness. · Heart failure, delayed motor skills, infections. · Infancy. · Genetic mutation.
Congestive heart failure · Life-threatening bacterial infection · Gross motor delay · Risk of fatal arrhythmia · Extreme fatigue · Diarrhea and/or ...
Barth Syndrome - an overview | ScienceDirect Topics
It is characterized by cardiomyopathy and other cardiac abnormalities, skeletal myopathy, prepubertal growth delay, neutropenia, and 3-methylglutaconic aciduria ...
Barth syndrome cardiomyopathy - Oxford Academic
Several studies have observed changes in CL amounts and species composition in heart disease. Tetralinoleyl CL and total CL levels decrease in pediatric ...
Barth syndrome | Orphanet Journal of Rare Diseases | Full Text
Standard heart failure management has included the use of angiotensin converting enzyme inhibitors, beta blockers, digoxin and diuretics, ...
Barth Syndrome: Symptoms & Causes - Cleveland Clinic
Unusually high levels of an organic acid in the urine (3-methylglutaconicaciduria). · Enlargement of the heart's lower chambers (dilated cardiomyopathy).
Barth syndrome cardiomyopathy: targeting the mitochondria with ...
Mitochondrial dysfunction therefore plays a central role in a wide variety of metabolic and cardiac disorders, including heart failure (HF) and ...
Modeling the mitochondrial cardiomyopathy of Barth syndrome with ...
Cardiolipin abnormalities also occur in ischemic heart disease and aging and have been implicated in the cardiac dysfunction characteristic of ...
Barth syndrome: A life-threatening disorder caused by abnormal ...
The cardiac manifestations in BTHS often change over time (undulating cardiomyopathy) and can lead to arrhythmia, congestive heart failure and sudden cardiac ...
Barth syndrome (BTHS) is an inborn error of phospholipid metabolism characterized by dilated cardiomyopathy (DCM), skeletal myopathy, neutropenia, growth delay ...
Barth syndrome-related cardiomyopathy is associated with a ...
Heart failure presents as the leading cause of infant mortality in individuals with Barth syndrome (BTHS), a rare genetic disorder due to mutations in the ...
Case report of Barth syndrome: a forgotten cause of cardiomyopathy
AbstractBackground. Barth syndrome (BTHS) is a rare X-linked recessive disorder characterized by clinical features including cardiomyopathy, ...
Prenatal case report of Barth syndrome caused by novel TAFAZZIN ...
Thus, heart failure may be a major cause of death in patients with BTHS (3, 5). To date, BTHS has been widely reported, but prenatal cases are relatively rare.
Barth syndrome: mechanisms and management | TACG
In some cases, cardiomyopathy may improve over time or may remain stable throughout the disease course. LVHT can be complicated by heart failure ...
Cardiolipin remodeling in Barth syndrome and other hereditary ...
Imbalanced Opa1 processing in cardiac tissue can cause metabolic remodeling of the heart, resulting in dilated cardiomyopathy [83]. Dimerization and induction ...