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Management of hypertrophic cardiomyopathy - the most common inherited heart disease.

08:00 EDT 11th June 2018 | BioPortfolio

Summary of "Management of hypertrophic cardiomyopathy - the most common inherited heart disease."

Hypertrophic cardiomyopathy is the most common cardiogenetic disease affecting 1/500-1/1 000 individuals. Dyspnea is common but chest pain, dizziness or fainting may also cause considerable limitation for the patient. The diagnosis can be suspected from ECG. Echocardiography confirms hypertrophy of at least 15 mm, usually in the septum. If the obstruction of the outflow tract is severe, myectomy or alcohol ablation can relieve symptoms. Genetic evaluation of family members is advisable. To reduce symptoms, betablockers are used; verapamil or disopyramide are alternatives. Atrial fibrillation is often prevalent and requires special attention concerning anticoagulation and rhythm or rate control. An end-stage heart failure warrants advanced treatment options such as cardiac resynchronization therapy, ventricular assist devices or heart transplant. Sudden cardiac death is unpredictable and evaluation of risk markers is important to identify potential candidates for an implantable defibrillator.

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Name: Lakartidningen
ISSN: 1652-7518
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Medical and Biotech [MESH] Definitions

An autosomal dominant inherited form of HYPERTROPHIC CARDIOMYOPATHY. It results from any of more than 50 mutations involving genes encoding contractile proteins such as VENTRICULAR MYOSINS; cardiac TROPONIN T; ALPHA-TROPOMYOSIN.

An autosomal recessively inherited glycogen storage disease caused by GLUCAN 1,4-ALPHA-GLUCOSIDASE deficiency. Large amounts of GLYCOGEN accumulate in the LYSOSOMES of skeletal muscle (MUSCLE, SKELETAL); HEART; LIVER; SPINAL CORD; and BRAIN. Three forms have been described: infantile, childhood, and adult. The infantile form is fatal in infancy and presents with hypotonia and a hypertrophic cardiomyopathy (CARDIOMYOPATHY, HYPERTROPHIC). The childhood form usually presents in the second year of life with proximal weakness and respiratory symptoms. The adult form consists of a slowly progressive proximal myopathy. (From Muscle Nerve 1995;3:S61-9; Menkes, Textbook of Child Neurology, 5th ed, pp73-4)

A form of CARDIAC MUSCLE disease, characterized by left and/or right ventricular hypertrophy (HYPERTROPHY, LEFT VENTRICULAR; HYPERTROPHY, RIGHT VENTRICULAR), frequent asymmetrical involvement of the HEART SEPTUM, and normal or reduced left ventricular volume. Risk factors include HYPERTENSION; AORTIC STENOSIS; and gene MUTATION; (FAMILIAL HYPERTROPHIC CARDIOMYOPATHY).

A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS).

Isoforms of MYOSIN TYPE II, specifically found in the ventricular muscle of the HEART. Defects in the genes encoding ventricular myosins result in FAMILIAL HYPERTROPHIC CARDIOMYOPATHY.

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