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A rare case of infiltrative cardiomyopathy: disseminated micronodular/miliary melanoma
Session:
Casos Clínicos: Doença Valvular, Pericárdica, Pulmonar, Congénita e Miocardiopatias
Speaker:
Mariana Martinho
Congress:
CPC 2024
Topic:
F. Valvular, Myocardial, Pericardial, Pulmonary, Congenital Heart Disease
Theme:
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Subtheme:
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Session Type:
Sessão de Casos Clínicos
FP Number:
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Authors:
Mariana Martinho; João Mirinha Luz; Inês Cruz; Bárbara Marques Ferreira; Diogo Santos Cunha; Nazar Ilchyshyn; Oliveira Baltazar; Liliana Brochado; Tiago Lobão; Lourenço Aguiar; Ana Catarina Gomes; Hélder Pereira
Abstract
<p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif">A 62-year-old woman with irrelevant medical history, presented to the emergency department with 1-month progressive worsening fatigue, dyspnoea, orthopnoea and peripheral oedema. She denied having fever, respiratory or consumptive symptoms. Examination revealed haemodynamic stability with slight tachycardia and temperature of 37.5ºC, alongside signs of right heart failure with jugular distention, hepatojugular reflux and oedema of the lower limbs. Initial ECG showed sinus rhythm with right ventricular overload and low-voltage QRS complexes. Analytically, there was a chronic disease anaemia (<span style="color:black">Hb 9.4g/L), with mildly elevated inflammatory markers, </span>slight D-dimer elevation of 1.23ug/mL, high-sensitivity troponin T of 63ng/L, and a NTproBNP of 7806pg/mL. Chest X-ray revealed numerous parenchymal opacities with miliary characteristics distributed bilaterally. Further investigation with transthoracic echocardiogram indicated severe pericardial effusion with signs of pre-tamponade, biventricular and interatrial septum hypertrophy, with a granular appearance of the myocardium, and normal systolic function. Considering this, the initial diagnostic hypothesis was tuberculosis and <span style="color:black">a thoraco-abdominal-pelvic CT scan demonstrated multiple small-size nodules (<4mm) in the lungs, associated with mediastinum-hilar lymphadenopathy, signs of polyserositis and countless multiorgan nodules. </span>The patient underwent diagnostic and therapeutic pericardiocentesis, being inconclusive for aetiological proposes but excluding tuberculosis, and leading to clinical improvement. Further investigation was inconclusive for hormonal, autoimmune, inflammatory and infectious diseases. An 18F-FDG PET scan demonstrated numerous hypermetabolic foci, and cardiac MRI was highly suggestive of <span style="color:black">tumoral infiltration, due to hyperintensity in T1 and T2-weighted sequences, and diffuse heterogenous contrast uptake in early and delayed enhancement studies.</span> Ultrasound-guided biopsy of a PET-positive axillary adenopathy identified melanoma metastasis, but this was only known post-mortem since the patient died shortly after. Autopsy revealed widespread micronodular melanoma, with myocardial infiltration.</span></span></p> <p style="text-align:justify"><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif">To authors knowledge, this is the first case of miliary melanoma dissemination to the myocardium, since it most commonly presents as <span style="color:black">a macronodular “solid pattern”. </span>The case underscores the challenges of diagnosing cardiac metastasis, especially when the tumour origin is unknown. Melanoma's affinity for 18F-FDG and characteristic CMR findings may aid in confirming myocardial pathology. Being a paramagnetic substance, melanin tipically leads to <span style="color:black">hyperintensity T1w and hypointensity T2w in CMR</span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif"><span style="color:black">, although T2w hypersignal is most common. Although t</span></span></span><span style="font-size:12pt"><span style="font-family:Calibri,sans-serif">imely diagnosis may allow for immunotherapy, prognosis remains poor.</span></span></p>
Slides
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