Barth Syndrome Management Gets a Boost With Targeted Elamipretide Therapy
A comprehensive GeneReviews update on Barth syndrome outlines diagnosis, new targeted therapy, and surveillance strategies for this rare X-linked disorder.
356 articles in this topic
A comprehensive GeneReviews update on Barth syndrome outlines diagnosis, new targeted therapy, and surveillance strategies for this rare X-linked disorder.
The first disease-specific treatment for Barth syndrome gains FDA accelerated approval, targeting mitochondrial dysfunction to restore muscle strength.
Deleting GTPBP3 in endothelial cells blocks angiogenesis via mtROS overload — and a mitochondria-targeted antioxidant reverses the damage.
Mendelian randomization links circulating inflammatory proteins to retinal microvascular changes, heart disease risk, and lifespan — establishing causal direction.
A 2025 review maps the molecular mechanisms driving cardiovascular aging—from inflammaging to ECM remodeling—and outlines emerging therapies.
A NYC cohort study finds social adversity dramatically raises mortality and rehospitalization in people living with HIV and heart failure.
A major trial shows evolocumab dramatically reduces cardiovascular events in stent patients who've never had a heart attack.
Researchers propose targeting lymph node entry mechanisms to improve immune tolerance in cardiac transplant recipients, potentially reducing rejection.
Cas13-based RNA editing shows promise for treating hereditary hypertrophic cardiomyopathy by correcting disease-causing mutations at the RNA level.
A Swedish cohort of 4.3 million found maternal diabetes during pregnancy significantly increases offspring CVD risk, with pregestational diabetes driving the highest hazard.
A pathological study ties common Lp(a) risk gene variants to specific coronary thrombosis morphologies in sudden cardiac death victims.
In obese middle-aged mice, reducing dietary protein—without cutting calories—reversed cardiac inflammation and remodeling via AMPK-ULK1 mitophagy.