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Cellular and molecular mechanisms? Henning Bundgaard The Heart Center Rigshospitalet The inherited cardiac diseases 1. Cardiomyopathies: Hypertrophic, dilated, idiopathic restrictive and arrhythmogenic right ventricle cardiomyopathy, non-compaction, muscular dystrophies 2. Channelopathies: Long QT syndrome, Brugada syndrome, Catecholaminergic polymorf VT 3. Ischaemic heart disease: Premature IHD, familial hypercholesterolemia 4. Storage diseases: Hereditary hemochromatosis, familial amyloidosis, Fabry disease 5. Others: Pulmonary arterial hypertension, Marfan syndrome 6. Sudden cardiac death: 7. +…+…+… <> McKenna W. ARVC – fat in RV Dilated cardiomyopathy Restrictive cardiomyopathy <> McKenna W. Intercalated discs in normal heart HCM LV wall thickness HCM Grey zone; 13-15 mm Athlete’s heart Athlete’s heart + Unusual LVH patterns - + LV d cavity < 45 mm - - LV d cavity > 55 mm + + Marked LA enlargement - + Bizarre ECG patterns - + Abnormal LV filling - + Female sex - - Wall after deconditioning + + Family history of HCM - - Max VO2 > 45 ml/kg/min + Maron BJ, Heart, 2005 <> McKenna W. Arrhythmogenic right ventricular cardiomyopathy Dilated cardiomyopathy <> Spirito et al. Desmosomal diseases - ARVC Desmosomal diseases - ARVC Desmosomal diseases Desmosomal diseases - ARVC Mutations in genes that can cause DCM. EHJ, Osterziel, 2005 Cell communications Ion-channel diseases Ion-channel diseases Ionic Hypothesis Ionic Hypothesis [Ca2+]] [Ca [Na+] 2+ Normal Heart Failure [Ca2+] Time + Noradrenaline DM Bers. Cardiac E-C Coupling. 2001 160 Contractility (% control) 150 140 130 120 110 100 90 80 70 60 5 7 9 11 13 [Na]i 15 17 19 <> McKenna W. <> Sammenfatning genetikken – og dermed molekylærbiologien tager vi et dybt spadestik ned i de normale og de patologiske mekanismer i cellen – vidtgående ukendt land Vi kan se frem til nye ”tailored” og revolutionerende behandlingsmuligheder baseret på molekylærbiologien Vi har umådeligt meget at lære endnu Med Take home message 1 = 4 (1 proband + 3 relatives)