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Diagnosis and therapy of hypertrophic cardiomyopathy and its differential diagnoses

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Myocardial hypertrophy can be caused by a number of diseases. The differentiation between primary (hypertrophic cardiomyopathy, HCM) and secondary myocardial hypertrophy (hypertensive cardiomyopathy, athlete's heart, myocardial storage disease) is important for specific therapeutic and prognostic reasons. In most cases, genetically determined HCM can be diagnosed on the basis of the patients history, auscultation, ECG and echocardiography. In less common cases, additional tissue Doppler echocardiography, myocardial biopsy, gadolinium-based contrast MRI or genetic testing maybe helpful to differentiate it from important diagnoses. Left-heart catheterization should only be performed in patients with unclear obstruction in echocardiography or if transcoronary ablation of septal hypertrophy (TASH) is planned. In addition to general measures, treatment of obstruction in the left-ventricular outflow tract is most important in patients with hypertrophic obstructive cardiomyopathy (HOCM). If drug treatment of the obstruction using betablockers or Verapamil fails in symptomatic HOCM patients, TASH or surgical myectomy is indicated. Implantation of a cardioverter defibrillator (ICD) is accepted for primary prevention of sudden cardiac death in high-risk patients. Hypertensive heart disease and athlete's heart are characterized by mild myocardial hypertrophy. Storage diseases can mimic HCM without obstruction. In these secondary forms of myocardial hypertrophy, treatment of the underlying disease is indicated.

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