Hypertrophic cardiomyopathy (HCM) is a genetic heart disease characterized by left ventricular hypertrophy (LVH =15 mm) in the absence of other causes. It affects 1 in 500 individuals, with an autosom Show more
Hypertrophic cardiomyopathy (HCM) is a genetic heart disease characterized by left ventricular hypertrophy (LVH =15 mm) in the absence of other causes. It affects 1 in 500 individuals, with an autosomal dominant inheritance pattern involving MYH7 and MYBPC3, the most commonly affected genes. Diagnosis relies on echocardiography, with cardiac magnetic resonance providing additional insights, including late gadolinium enhancement, aneurysms, and microvascular dysfunction linked to adverse outcomes. Risk stratification for sudden cardiac death includes the HCM Risk-SCD (adults) and HCM Risk-Kids (pediatrics) models, guiding implantable cardioverter defibrillator therapy. Management depends on phenotype: 1. Obstructive HCM: First-line therapy includes beta-blockers or non-dihydropyridine calcium channel blockers. Myosin inhibitors offer new options for symptom control. In refractory cases, surgical myectomy or alcohol septal ablation is recommended. 2. Non-Obstructive HCM: Treatment focuses on diastolic dysfunction and arrhythmia management, with emerging pharmacologic options under investigation. 3. Atrial fibrillation: Common in HCM, requiring anticoagulation, rate control, or ablation. Advances in genetic testing, imaging, and targeted therapies have significantly reduced HCM-related mortality to 0.5% per year, transforming it into a manageable condition. Future research will enhance precision medicine, surgical expertise, and equitable access to care. Show less
A stroke's functional outcome presents vast variability among patients, which is influenced by age, sex, characteristics of the lesion, and genetic factors. However, there is little knowledge about st Show more
A stroke's functional outcome presents vast variability among patients, which is influenced by age, sex, characteristics of the lesion, and genetic factors. However, there is little knowledge about stroke recovery genetics. Recently, some GWAS (Genome-Wide Association Studies) have highlighted the involvement of common or low-frequency variants near or within We performed a pilot study analyzing 90 exomes of extreme good and bad recovery (modified Rankin Scale score at 3 months, 0-1 versus 4-5) to select target genes involved in stroke recovery. To expand this study, 702 additional samples were sequenced by targeted next-generation sequencing capturing loci selected from the pilot study, GWASs, and literature input. Here, we performed continuous (modified Rankin Scale score, 0-6) and dichotomous (modified Rankin Scale score, 0-1 versus 3-6) analyses, yielding 1 candidate gene. All samples were selected by a retrospective cohort study from incidental stroke cases collected at Spanish Hospitals between 2000 and 2018. The identified VNN2 variants were assessed for protein structure and stability analysis, and an analysis of their effect on basal inflammation levels was performed using UK Biobank data. Our work identified rare coding variants in We propose that Show less