Sex-disaggregated data in hypertrophic cardiomyopathy: a targeted literature review, meta-analysis and primary cohort study.
OBJECTIVE: Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiomyopathy characterised by pathological left ventricular hypertrophy and categorised into obstructive and non-obstructive...
Chronic ketamine use associated with progressive multisystem organ dysfunction.
A man in his 30s developed progressive multisystem organ dysfunction following 15 years of heavy recreational ketamine use. Complications included ketamine cystitis, cholangiopathy, obstructive uropat...
Thick filament molecular interfaces play a critical role in the pathogenesis of hypertrophic cardiomyopathy.
Hypertrophic cardiomyopathy (HCM) variants in genes encoding the myosin heavy chain (MHC) (MYH7), myosin light chains (MYL2 and MYL3), and cardiac myosin binding protein-C (cMyBP-C, MYBPC3) lead to ca...
A platelet-monocyte pyroptotic axis mediates uremic cardiomyopathy: critical role of PF4 and hematopoietic caspase-1.
BACKGROUND: Cardiovascular disease is the leading cause of death in end-stage renal disease (ESRD). While platelet activation and monocyte inflammation are hallmarks of uremia, how platelet-derived fa...
Mavacamten in adolescent obstructive hypertrophic cardiomyopathy: SCOUTing a way forward.
Paediatric obstructive hypertrophic cardiomyopathy (oHCM) is a rare inherited cardiac disease that may present from childhood through adolescence and is associated with substantial long-term morbidity...
Cardioimmunology of Myocarditis: Targeting the IL-1 Pathway.
PURPOSE OF REVIEW: Myocarditis is a heterogeneous inflammatory syndrome with aetiologies ranging from viral infection and drug hypersensitivity to systemic autoimmune/autoinflammatory disease and immu...
Overcoming barriers to early diagnosis and treatment of p.Val142Ile amyloid transthyretin (ATTR) cardiomyopathy.
The most common hereditary transthyretin (ATTRv) amyloidosis variant in the United States, Val122Ile (p.Val142Ile), is predominantly detected in populations of African ancestry. In this narrative revi...
From Genotype to Phenotype: Investigating SLC22A5 Variants and Their Significance in Carnitine Deficiency: A Systematic Review Study.
Primary carnitine deficiency (PCD) is an autosomal recessive disorder caused by mutations in the SLC22A5 gene, which encodes the organic cation transporter 2 (OCTN2). These mutations impair carnitine ...
Troponin Screening and Major Cardiovascular Adverse Events During Immune Checkpoint Inhibitor Therapy.
BACKGROUND: Troponin monitoring is recommended for the early detection of immune checkpoint inhibitor (ICI)-associated myocarditis, but its utility as a universal screening tool for all cardiovascular...
A Homozygous Founder ELAC2 Variant in Kuwaiti Infants With Fatal Cardiomyopathy and Refractory Severe Lactic Acidosis: A Retrospective Review of the Clinical, Cardiological and Molecular Findings.
BACKGROUND: Infantile-onset cardiomyopathy due to mitochondrial dysfunction is a severe condition frequently associated with poor prognosis. Biallelic pathogenic variants in ELAC2, an essential mitoch...
Mavacamten's Dose-Time Dynamics and Predictive Factors in Hypertrophic Obstructive Cardiomyopathy Cardiac Remodeling.
BACKGROUND: Hypertrophic obstructive cardiomyopathy (HOCM) causes dynamic left ventricular outflow tract (LVOT) obstruction and disabling symptoms; many patients do not respond to conventional agents....
Heart Transplant for Noncompaction Cardiomyopathy in NONO-Related Syndromic Intellectual Disability.
INTRODUCTION: Loss-of-function variants in NONO cause an X-linked syndromic neurodevelopmental disorder (MRXS34), characterized by developmental delay, corpus callosum abnormalities, dysmorphic featur...
Failed Ventrain Device! Spontaneous Bag-Mask Ventilation Revisited as a Rescue Procedure in a Case of Recurrent Tracheal Stenosis with Dilated Cardiomyopathy.
This case report discusses the anesthetic management of a 47-year-old female with recurrent adenocystic carcinoma of the trachea and dilated cardiomyopathy (DCMP) undergoing tracheal tumor debulking a...
Guidewire Obstruction of Centrifugal Pump, in Patient on Extracorporeal Circulatory Support.
This case report tells the story of a 36-year-old overweight male with suspected myocarditis, who goes into cardiac arrest, and is subsequently transported to a heart center for extracorporeal membran...
Non-invasive pressure-volume loop analysis in left ventricular load manipulation.
BACKGROUND: Clinical monitoring of patients with heart failure or cardiomyopathy is facilitated by detailed assessment of cardiac loading conditions. Specifically, alterations in preload and afterload...
[A case report of seronegative dermatomyositis primarily presenting as severe myocarditis].
皮肌炎是一种以皮肤和横纹肌受累为主的少见特发性炎性肌病（IIMs）。皮肌炎累及心脏多为无症状或亚临床心脏受累，自身抗体多为阳性。皮肌炎并发重症心肌炎临床少见，却是重要死亡原因。本文报道1例自身抗体阴性皮肌炎并发重症心肌炎病例，以期强化病因识别和鉴别诊断，提供临床参考。.
Identification of the MYH6 c.804G>C Synonymous Variant Causing Exon Skipping in a Hypertrophic Cardiomyopathy Family.
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is a common hereditary cardiac disorder characterized by left ventricular hypertrophy, outflow tract obstruction, arrhythmias, and increased risk of sudde...
Serial Strain-Based Echocardiographic Characterization of Early Left Heart Functional Changes During Short-Term Mavacamten Treatment in Obstructive Hypertrophic Cardiomyopathy.
PURPOSE: To characterize early left heart functional changes during short-term mavacamten use in a real-world obstructive hypertrophic cardiomyopathy (oHCM) cohort using serial strain-based echocardio...
Potential Mechanisms of Trimetazidine and Coenzyme Q10 Against Antipsychotic-Induced Myocarditis: A Network Pharmacology, Molecular Docking, and Molecular Dynamics Simulation Study.
BACKGROUND: Antipsychotic-induced myocarditis is a rare but potentially fatal adverse event associated with antipsychotic treatment. Trimetazidine (TMZ) and coenzyme Q10 (CoQ10) have shown potential c...
[Cardiogenetics in clinical practice : challenges, indications, and perspectives].
Cardiogenetics plays an increasingly important role in managing cardiovascular diseases, owing to the major impact of genetic data on diagnosis, risk stratification, therapeutic decision-making, and f...