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Cellular and molecular mechanisms?

Explore the intricate cellular and molecular mechanisms underlying inherited cardiac diseases, including various cardiomyopathies, channelopathies, and storage diseases. Uncover the genetic triggers of these conditions and discover potential tailored treatments through molecular biology insights. Embrace the potential for revolutionary therapies based on these discoveries and the vast unknown territories awaiting exploration in the realm of cellular mechanisms in the heart.

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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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