pyrimidinones has been researched along with Cardiomyopathy--Hypertrophic* in 4 studies
1 review(s) available for pyrimidinones and Cardiomyopathy--Hypertrophic
| Article | Year |
|---|---|
Subendocardial ischemia in hypertrophic cardiomyopathy.
Hypertrophic cardiomyopathy (HCM) patients often develop subendocardial ischemia in the left ventricle without atherosclerotic coronary stenosis. Myocardial ischemia plays an important role in the pathophysiology of HCM, but diagnostic techniques for the detection of subendocardial ischemia have not been widely available. We developed specific techniques to quantify subendocardial ischemia on stress scintigraphy, and have compared the results with various clinical features in patients with HCM. This article reviews our understanding of subendocardial ischemia in HCM based on more than 20 years of experience. Topics: Bridged Bicyclo Compounds, Heterocyclic; Cardiomyopathy, Hypertrophic; Diagnostic Imaging; Diltiazem; Echocardiography; Follow-Up Studies; Humans; Magnetic Resonance Imaging; Male; Middle Aged; Myocardial Ischemia; Positron-Emission Tomography; Prognosis; Prospective Studies; Pyrimidinones; Tomography, Emission-Computed, Single-Photon; Verapamil | 2014 |
3 other study(ies) available for pyrimidinones and Cardiomyopathy--Hypertrophic
| Article | Year |
|---|---|
Severe Lymphatic Disorder and Multifocal Atrial Tachycardia Treated with Trametinib in a Patient with Noonan Syndrome and SOS1 Mutation.
Noonan syndrome (NS) is a multisystemic disorder caused by germline mutations in the Ras/MAPK cascade, causing a broad spectrum of phenotypical abnormalities, including abnormal facies, developmental delay, bleeding diathesis, congenital heart disease (mainly pulmonary stenosis and hypertrophic cardiomyopathy), lymphatic disorders, and uro-genital abnormalities. Multifocal atrial tachycardia has been associated with NS, where it may occur independently of hypertrophic cardiomyopathy. Trametinib, a highly selective MEK1/2 inhibitor currently approved for the treatment of cancer, has been shown to reverse left ventricular hypertrophy in two RIT1-mutated newborns with NS and severe hypertrophic cardiomyopathy. Severe lymphatic abnormalities may contribute to decreased pulmonary compliance in NS, and pulmonary lymphangiectasias should be included in the differential diagnosis of a newborn requiring prolonged oxygen administration. Herein we report the case of a pre-term newborn who was admitted to our unit for the occurrence of severe respiratory distress and subentrant MAT treated with trametinib. Topics: Cardiomyopathy, Hypertrophic; Humans; Infant, Newborn; Mutation; Noonan Syndrome; Oxygen; Pyridones; Pyrimidinones; ras Proteins; Tachycardia | 2022 |
Hypertrophic Cardiomyopathy in Noonan Syndrome Treated by MEK-Inhibition.
Topics: Cardiomyopathy, Hypertrophic; Female; Gestational Age; Humans; Infant, Newborn; MAP Kinase Kinase Kinase 1; Mutation; Noonan Syndrome; Pregnancy; Prognosis; Protein Kinase Inhibitors; Pyridones; Pyrimidinones; Rare Diseases; Risk Assessment; Sampling Studies; Treatment Outcome; Ultrasonography, Prenatal | 2019 |
Mek Inhibitor Reverses Hypertrophic Cardiomyopathy in RIT1 Mutated Noonan Syndrome: For the first time, hypertrophic cardiomyopathy was reversed in Noonan syndrome associated with a RIT1 mutation.
Topics: Anti-Arrhythmia Agents; Antineoplastic Agents; Cardiomyopathy, Hypertrophic; Cardiovascular Agents; Drug Repositioning; Echocardiography; Gene Expression Regulation; Heart Valves; Heterozygote; Humans; Infant; MAP Kinase Kinase 1; Mutation; Natriuretic Peptide, Brain; Noonan Syndrome; Peptide Fragments; Propranolol; Protein Kinase Inhibitors; Pyridones; Pyrimidinones; ras Proteins; Signal Transduction; Treatment Outcome | 2019 |