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Cellular and molecular mechanisms?

Cellular and molecular mechanisms?. Henning Bundgaard The Heart Center Rigshospitalet. The inherited cardiac diseases. Cardiomyopathies: Hypertrophic, dilated, idiopathic restrictive and arrhythmogenic right ventricle cardiomyopathy, non-compaction, muscular dystrophies

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Cellular and molecular mechanisms?

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  1. Cellular and molecular mechanisms? Henning Bundgaard The Heart Center Rigshospitalet

  2. The inherited cardiac diseases • Cardiomyopathies: Hypertrophic, dilated, idiopathic restrictive and arrhythmogenic right ventricle cardiomyopathy, non-compaction, muscular dystrophies • Channelopathies: Long QT syndrome, Brugada syndrome, Catecholaminergic polymorf VT • Ischaemic heart disease: Premature IHD, familial hypercholesterolemia • Storage diseases: Hereditary hemochromatosis, familial amyloidosis, Fabry disease • Others: Pulmonary arterial hypertension, Marfan syndrome • Sudden cardiac death: • +…+…+…

  3.                                                                            <>                                                                           <> McKenna W.

  4. ARVC – fat in RV

  5. Dilated cardiomyopathy

  6. Restrictive cardiomyopathy

  7.                                                                            <>                                                                           <> McKenna W.

  8. Intercalated discs in normal heart Athlete’s heart HCM LV wall thickness + 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 + HCM Grey zone; 13-15 mm Athlete’s heart Maron BJ, Heart, 2005

  9.                                                                            <>                                                                           <> McKenna W.

  10. Arrhythmogenic right ventricular cardiomyopathy

  11. Dilated cardiomyopathy

  12.                                                                            <>                                                                           <> Spirito et al.

  13. Desmosomal diseases - ARVC

  14. Desmosomal diseases - ARVC

  15. Desmosomal diseases

  16. Desmosomal diseases - ARVC Mutations in genes that can cause DCM. EHJ, Osterziel, 2005

  17. Cell communications

  18. Ion-channel diseases

  19. Ion-channel diseases

  20. Ionic Hypothesis

  21. [Ca2+]  [Ca2+]  [Na+]  Normal Heart Failure [Ca2+] Time Ionic Hypothesis

  22. +

  23. Noradrenaline

  24. 160 150 140 130 120 Contractility (% control) 110 100 90 80 70 60 5 7 9 11 13 15 17 19 [Na]i DM Bers. Cardiac E-C Coupling. 2001

  25.                                                                            <>                                                                           <> McKenna W.

  26.                                                                            <>                                                                           <>

  27. Sammenfatning • Med 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

  28. Take home message 1 = 4 (1 proband + 3 relatives)

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