ACM case report ACM case report خ”خ­دƒد€خ؟خ¹خ½خ± خ خ±دپد‡خ±دپخ¯خ؟...

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Transcript of ACM case report ACM case report خ”خ­دƒد€خ؟خ¹خ½خ± خ خ±دپد‡خ±دپخ¯خ؟...

  • ACM case report

    Δέσποινα Παρχαρίδου

    Καρδιολόγος

    Επιστημονικός συνεργάτης

    Α Καρδιολογική Κλινική ΑΧΕΠΑ

    Ιατρείο μυοκαρδιοπαθειών

  • • Female, 47 yo

    • Chest discomfort (sweating) and syncopal episode

    • Hospitalization

    • Asymptomatic before the episode

    • Viral upper respiratory tract infection without fever one month ago

  • si

    Increase in troponine

    Admission in coronary unit ACS therapy

    Echo → LV normal dimensions/ EF 45% RV normal dimensions and function

  • 2 days after presentation

  • Exercise test

    5 days after presentationRecovery stage I

  • • SPECT →Inferior wall reversible ischemia

    • At the same day ……

    Electrical Cardioversion 360J

  • • Normal coronary angiography

    • Discharge with a diagnosis of possible myocarditis

    • Referral for cardiac MRI

    Discharge medication

    Metoprolol 50 mg Statin 40 mg Aspirin 100 mg amiodarone 400 mg

  • • Possible ALVC

    • Referral to AHEPA outpatient cardiomyopathy clinic

  • AHEPA outpatient clinic

  • 1. Low voltage ecg in limb leads 2. Negative T waves in lateral precordial leads 3. MRI suspicious for ACLV 4. Cardiocutaneous phenotype

  • Genetic analysis

    • The variant DSP:c.2811_2812dupAT was identified in heterozygosity . It is considered a pathogenic variant which we confirmed with sanger sequencing.

    • The variant DSP:c.2811_2812dupAT is new and never previously reported. It is predicted to cause an interruption of protein synthesis and the formation of a truncated protein p.Ser938Tyrfs.

  • proband father

  • • ICD implantation

    • One year follow up → no ICD therapies

  • Nodes of Bizzozero in the skin

    Giulio Bizzozero

    Field of interest for Bizzozero concerned the histological structure of the epidermis and, in particular the points of contact between adjacent cells

    There was no cytoplasmic continuity between these cells, and that the dense nodules that we now call desmosomes or ‘connecting bodies’ were, in fact, bipartite adhesive structures to which both cells contributed (1864)

    Italian pathologist (1846–1901) Nat. Rev.Mol. Cell Biol 2001

  • Desmosome

    Annu. Rev. Pathol. Mech. Dis. 2018

    Myocardium, epidermis, mucous membranes, meningeal cells of the aracnoidea, bladder, gastrointestinal mucosa

    Josef Schaffer introduced the term “desmosome”, by combining the greek words “desmos” (bond) and “soma” (body) (1920)

  • Other genes

    • Titin

    • DES

    • Lamine A/C

    • PLN

    • FLMN

  • Eur J Heart Fail. 2019

    •Remodelling of desmosomes, gap junctions and ion channels •The intercalated disk as a whole is involved

  • Curly hair

    • Desmoplakin and other desmosomal proteins have a key role in hair follicle biology

    • abnormal distribution of desmosomal components in the follicle and consequent impairment of cell-cell adhesion could contribute to angulation of the follicle, which is known to cause curvature of the hair strand

  • J Am Acad Dermatol 1998

    Human molecular genetics 2000

  • British Journal of Dermatology 2010

    Clinical and Experimental Dermatology 2013

    low-voltage ecg with T-wave changes over the left ventricle

    epidermolysis bullosa, syndactyly, malformed ear , anonychia, respiratory failure, death

  • Norgett E, Journal of Investigative Dermatology 2006

    J Dent Res 2011

    •Biventricular ACM • Died 16 yo

    Heart transplantation

  • 6 families, 58 family members, 38 mutation carries, 5 deceased (33 mutation carriers alive)

    Marruthappu et al, Br J Dermatol. 2018

  • Take home messages

    • Low voltage ecg and negative T waves in inferolateral leads, arrhythmias of left ventricular origin and disproportionate extent of ventricular arrhythmias to the reduced EF are suspicious for ALVC

    • Tissue characterization with MRI is essential in ALVC phenotype

    • If curly hair and palmoplantar keratoderma exists, rule out ACM

    • It is not clear if myocarditis is a primary phenomenon or reactive to cardiomyocyte death in ACM

  • • Many thanks