ACM case report · ACM case report Δέσποινα Παρχαρίο ... 2. Negative T waves in...

Post on 24-Jul-2020

2 views 0 download

Transcript of ACM case report · ACM case report Δέσποινα Παρχαρίο ... 2. Negative T waves in...

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 unitACS 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 mgStatin 40 mgAspirin 100 mgamiodarone 400 mg

• Possible ALVC

• Referral to AHEPA outpatient cardiomyopathy clinic

AHEPA outpatient clinic

1. Low voltage ecg in limb leads2. Negative T waves in lateral precordial leads3. MRI suspicious for ACLV4. 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 greekwords “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