Presentation
The clinical and echocardiographic results are presented in Table 2. [omicsonline.org]
AMD represents a wide spectrum of clinical presentations caused by an accumulation of glycogen in lysosomes: Glycogen storage disease due to acid maltase deficiency, infantile onset, non-classic infantile onset and adult onset (see these terms). [orpha.net]
HCM can present from infancy through adulthood. [invitae.com]
A supply-demand mismatch also may be present due to increased oxygen demand caused by the hypertrophy and adverse loading conditions. [merckmanuals.com]
Patients present with symptoms and signs of left-predominant congestive heart failure. [radiopaedia.org]
Entire Body System
- Fatigue
Clinical findings, young patients Range from asymptomatic to diastolic dysfunction, dyspnea, fatigue, anginal pain, syncope, an increased risk of severe obstruction, congestive heart failure, sudden death simulating acute myocardial infarction. [medical-dictionary.thefreedictionary.com]
Symptoms of heart failure may include shortness of breath, fatigue, cough, orthopnea, paroxysmal nocturnal dyspnea, and edema. This presentation is common in patients with dilated cardiomyopathy. [aafp.org]
[…] single copy of the defective gene in each cell of an individual is sufficient to cause the condition Familial Hypertrophic Cardiomyopathy can be asymptomatic, or present with symptoms such as chest pain, shortness of breath while lying down or sleeping, fatigue [dovemed.com]
Protein mutation Inheritance Gene Clinical features PRKAG2 Gamma subunit of AMP-dependant protein kinase 2 Autosomic recessive 7q36.1 Hypotonia; failure to thrive Hypoglycemia; Hepatomegaly; growth retardation GLA Alpha galactosidase X linked Xq22.1 Fatigue [escardio.org]
Breast feeding Hepatic Hypoketotic hypoglycemia Metabolic encephalopathy Habitus: Overweight CNS: Episodic encephalopathy Muscle Fatigue (35%) Muscle pain (31%) Exercise tolerance: Reduced Proximal weakness: Transient reported Cardiac: Few features Course [neuromuscular.wustl.edu]
Musculoskeletal
- Short Arm
MYBPC3 (myosin binding protein C, cardiac) gene, located on the short arm of chromosome 11 (11p11.2), encoding cardiac myosin binding protein C (cardiac MyBP-C), located in the cells of heart muscle. [ivami.com]
Neurologic
- Meningism
Pulmonary Hypertension of the Newborn; Pathophysiology of Meconium Aspiration Syndrome; Pathophysiology of Ventilator Dependent Infants; Pathophysiology of Hypoxic-Ischemic Brain Injury; Pathophysiology of Neonatal White Matter Injury; Pathophysiology of Meningitis [books.google.com]
Treatment
Holmes Springer Science & Business Media, ٠٦/١٢/٢٠٠٧ - 2926 من الصفحات Cardiovascular Medicine, 3rd Edition offers the most up-to-date, user-friendly guidance on the evaluation, diagnosis and medical and surgical treatment of heart and vascular disease [books.google.com]
Treatment for dilated cardiomyopathy is directed at the underlying disease. [aafp.org]
Treatment There is no treatment which can reverse the changes of the heart muscle. Treatment aims to ease symptoms if they occur and to prevent complications. [patient.info]
Discoveries in this area will help to determine the best evaluation and treatment methods. [childrenscardiomyopathy.org]
With early diagnosis and prompt treatment, the prognosis is generally good. [dovemed.com]
Prognosis
The cardiac morphology and prognosis are linked to the underlying genetic defect, but intra and interfamilial variation suggest polymorphism or mutation of other genes, or environmental factors. [link.springer.com]
[…] dealing with prognosis in HCM. [escardio.org]
With early diagnosis and prompt treatment, the prognosis is generally good. [dovemed.com]
Knowledge of the basic genetic defect could also help physicians to determine the prognosis of the disease and select earlier and more targeted treatments. [childrenscardiomyopathy.org]
I: Influence on prognosis. Br Heart J 1981; 46 : 168–172. 45. Maron BJ, Savage DD, Wolfson JK, Epstein SE. [jstage.jst.go.jp]
Etiology
Etiology The causes of cardiomyopathies are varied ( Table 2 ). 1 Dilated cardiomyopathy in adults is most commonly caused by CAD (ischemic cardiomyopathy) and hypertension, although viral myocarditis, valvular disease, and genetic predisposition may [aafp.org]
Myocardial dysfunction associated with cardiomyopathy can either be of mechanical or electrical etiology. [beta.labcorp.com]
Hypertrophic cardiomyopathy is characterized by left ventricular hypertrophy (wall thickness >12-15 mm; normal wall thickness is 12 mm or less, measured during diastole) without obvious etiology. [radiopaedia.org]
(Etiology) Familial Hypertrophic Cardiomyopathy is caused by mutations in the MYH7, MYBPC3, TNNT2, TNNI3, and some other unidentified genes. [dovemed.com]
Etiology In 1989, Jarcho et al reported the genetic basis for hypertrophic cardiomyopathy (HCM) and the existence of a disease gene located on the long arm of chromosome 14, which was subsequently found to encode for the beta cardiac myosin heavy chain [emedicine.medscape.com]
Epidemiology
Mutations: Q131E; R279C Allelic with: CMD 1CC CMH 21 ● Chromosome 7p12.1-q21; Dominant Epidemiology: 1 family Clinical Onset age: 13 years to Adult Cardiac failure Sudden death CMH 22 ● Myopalladin gene (MYPN) ; Chromosome 10q21.3; Dominant Genetics [neuromuscular.wustl.edu]
Epidemiology of Hypertrophic Cardiomyopathy-related death: Revisited in a large non-referral-based patient population. [ncbi.nlm.nih.gov]
Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology [beta.labcorp.com]
Epidemiology United States statistics Hypertrophic cardiomyopathy (HCM) is relatively common in the United States, with an estimated prevalence of 0.2% (1 case per 500 population [7] ) in adults. [emedicine.medscape.com]
B 9 Epidemiology In 2006, the AHA classified cardiomyopathies as primary (i.e., genetic, mixed, or acquired) or secondary (e.g., infiltrative, toxic, inflammatory). 1 The four major types are dilated cardiomyopathy, hypertrophic cardiomyopathy, restrictive [aafp.org]
Pathophysiology
[…] of Neonatal White Matter Injury; Pathophysiology of Meningitis; Pathophysiology of Preeclampsia; and Pathophysiology of Chorioamnionitis. [books.google.com]
Observations regarding its pathogenesis, pathophysiology, and course. Circulation 1973; 47:827–832 PubMed Google Scholar 13. Wigle ED, Sasson Z, Henderson MA, et al. Hypertrophic cardiomyopathy. [link.springer.com]
Definition and Basic Pathophysiology 1. [jstage.jst.go.jp]
Echocardiography plays a pivotal role in detecting the disease and understanding its pathophysiology. [cardiovascularultrasound.biomedcentral.com]
Journal Cardiovasc Res 77:659-66 (2008) DOI: 10.1093/cvr/cvm084 Reference PMID: 19136482 Authors Cambronero F, Marin F, Roldan V, Hernandez-Romero D, Valdes M, Lip GY Title Biomarkers of pathophysiology in hypertrophic cardiomyopathy: implications for [genome.jp]
Prevention
Familial Hypertrophic Cardiomyopathy is a genetic condition, and therefore, there are no guidelines or specific methods for preventing the condition from developing. [dovemed.com]
Use of implantable defibrillator in HCM for prevention of sudden death in young people. 2. Introduction of catheter-based alcohol septal ablation to reduce obstruction and symptoms as a treatment alternative to surgery for some HCM patients. 3. [books.google.com]
Anticoagulant medicines help to prevent blood clotting by thinning the blood. Surgery If your cardiomyopathy is severe, an operation may be an option: Myectomy. [patient.info]