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