scholarly journals Progressive cardiac involvement in a compound heterozygote Fabry patient: a case report

2018 ◽  
Vol 2 (4) ◽  
Author(s):  
Eliza Jeanette McConnell ◽  
James Every ◽  
Michel Tchan ◽  
Rebecca Kozor
2020 ◽  
Vol 4 (Supplement_1) ◽  
Author(s):  
Alexa José Escudero Siosi ◽  
Hudaifa Al Ani ◽  
Antoni Chan

Abstract Case report - Introduction Coronavirus (SARS-COV-19) typically targets the respiratory tract; however extra-respiratory manifestations such as myositis and myopericarditis may be the only presenting feature. We present a patient with myopericarditis who developed sudden onset muscle weakness. CT thorax showed typical appearance of COVID-19 with an absence of respiratory symptoms. MRI of both thighs revealed diffuse symmetrical myositis. Her clinical and paraclinical abnormalities improved with the aid of steroids. We present our approach to the case and highlight that clinicians should consider myositis as another COVID-19 manifestation when reviewing the differentials. Case report - Case description A 50-year-old female, non-smoker, presented with few days history of central chest pain radiating to her back. This was exacerbated by lying down and inspiration. Associated with mild shortness of breath on exertion. She denied upper respiratory tract symptoms. Her past medical history included hypertension and myopericarditis in 2012 and 2013 requiring pericardiocentesis. In 2017 she presented with post-streptococcal erythema nodosum and reactive arthritis in left ankle. On auscultation her heart sounds were normal, and chest was clear. Initial investigations revealed a mild lymphopenia 0.63, a C-reactive protein of 11mg/L, and a raised troponin 77 and 103 on repeat. D-dimer, Chest x-ray were normal. ECHO showed trivial anterior pericardial effusion, good biventricular function. Treatment included colchicine 500 micrograms four times a day and Ibuprofen 400 mg three times a day. On her second day of admission she developed hypotensive episodes BP 75/49 mm/Hg and mild pyrexia of 37.5 degrees. Her chest pain continued. Electrocardiogram was normal, repeat echocardiogram showed stable 1.40 cm pericardial effusion. CT thorax revealed no dissection or features suggesting pulmonary sarcoidosis but ground-glass opacity changes in keeping with COVID-19. Her COVID-19 swab test came back positive. On the 4th day of admission, she complained of sudden onset of severe pain affecting her thighs, shoulders, and arms, with marked proximal lower limbs and truncal weakness. Because of this, she struggled to mobilise. There was a rapid rise in her creatine kinase from 6.423U/L (day 5) to 32.230 U/L (day 7). ALT increased to 136. MRI showed diffuse myositis with symmetrical appearances involving the anterior, medial, and posterior muscle compartments of both thighs. In view of her previous and current presentation, autoimmune screen and extended myositis immunoblot were sent and were negative. Interestingly, her clinical and paraclinical abnormalities improved dramatically after few days with no steroids initially. Case report - Discussion The identification of extra-pulmonary manifestations neurological, cardiac, and muscular have recently increased as the number of COVID-19 cases grow. This case highlights cardiac and skeletal muscle involvement could perhaps represent early or only manifestation of COVID-19. Cardiac involvement in COVID-19 commonly manifests as acute cardiac injury (8–12%), arrhythmia (8.9–16.7%) and myocarditis. In our case the cardiac MRI demonstrated evidence of myocarditis in the basal inferoseptum and apex. Myalgia and muscle weakness are among the symptoms described by patients affected by COVID-19. Some studies report the prevalence of myalgia to be between 11%-50%. The onset of symptoms and the fact that her symptoms improved rapidly led us to consider a viral myositis as the underlying cause, the viral component being COVID-19. We also considered other potential causes. There are reported cases of colchicine myopathy however this is more common in patients with renal impairment, which was absent in this case. On further examination she did not have other clinical signs or symptoms of connective tissue disease or extra muscular manifestation of autoimmune myositis. Her abnormal ALT may be derived from damaged muscle, and therefore in this context is not necessarily a specific indicator of liver disease. Interestingly abnormal liver function tests have been attributed in 16 - 53% of COVID-19 cases. Little is known about the multiple biologic characteristics of COVID-19 and there are no established clinic serological criteria for COVID-19 related myositis nor useful values/cut offs to exclude cardiac involvement in myositis, further research is therefore warranted. In conclusion, clinicians should be aware of the rare manifestation of COVID-19 and consider this in the differentials. Of course, it is important in the first instant to rule out any serious underlying disease or overlap disorder before attributing symptoms to COVID-19. Case report - Key learning points  Myositis is a rare manifestation of COVID-19 that clinicians should be aware of.Detailed medical history, examination and investigations identifies the most likely underlying cause.In the right clinical context, COVID-19 – 19 testing should be included in baseline tests of patients presenting with myositis.


2021 ◽  
pp. 107815522110351
Author(s):  
Atakan Tekinalp ◽  
Taha U Kars ◽  
Hatice Z Dikici ◽  
Pınar D Yılmaz ◽  
Sinan Demircioğlu ◽  
...  

Introduction Cardiac involvement in diffuse large B-cell lymphoma is a rare entity in non-Hodgkin lymphomas. Symptoms are usually related to heart failure. Patients who are severely symptomatic due to cardiac mass could be considered treatment as soon as possible. In this report, we present a patient diagnosed with diffuse large B-cell lymphoma with cardiac involvement. Case Report A 61-year-old female patient was admitted to our unit with gastric biopsy diffuse large B-cell lymphoma. Computerized tomography of the chest and positron emission tomography/computed tomography demonstrated a neoplastic mass in the intra-atrial septum extended to inferior vena cava (5 × 4 cm in size and standardized uptake value maximum 24.6). She was in stage III and in the high-risk group. Because of pronounced heart failure findings associated with the mass-specific chemotherapy was planned early. Management & Outcome Although a fraction of ejection was 60% by echocardiography before the treatment, she had a cardiac risk for doxorubicin due to being over 60 years old and hypertension. Complete remission was achieved after three cycles of rituximab–cyclophosphamide–doxorubicin–vincristine and methylprednisolone protocol including doxorubicin. Treatment was completed with six cycles and she was followed up for three months. Discussion Because of the cardiotoxicity of doxorubicin-based protocols, patients should be evaluated according to cardiac functions before and during the chemotherapy.


2016 ◽  
Vol 96 (4) ◽  
pp. 564-566 ◽  
Author(s):  
Y Kaku ◽  
A Otsuka ◽  
H Tanizaki ◽  
R Shibuya ◽  
Y Endo ◽  
...  

Amyloid ◽  
2012 ◽  
Vol 19 (3) ◽  
pp. 156-160 ◽  
Author(s):  
Benjamin Freeman ◽  
J. Mark Sloan ◽  
David C. Seldin ◽  
Andrew J. Cowan ◽  
Frederick L. Ruberg ◽  
...  

2018 ◽  
Vol 2018 ◽  
pp. 1-3
Author(s):  
Mohankumar Kurukumbi ◽  
Lauren Gardiner ◽  
Shevani Sahai ◽  
John W. Cochran

Sarcoidosis is a systemic disease with cardiac involvement occurring in 20-50% of cases. Cardiogenic stroke caused by cardiac sarcoidosis, especially PCA infarction, is a rare clinical presentation that necessitates timely diagnosis and may warrant treatment prophylaxis against CVA. In this case report, we describe a 54-year-old Caucasian male presenting with left PCA stroke in the setting of cardiac and pulmonary sarcoidosis, and hypertension. His presenting symptoms included right partial hemianopia, difficulty with naming, memory, and recall, and alexia without agraphia. Cardiogenic stroke is an uncommon manifestation of cardiac sarcoidosis, and given the disabling nature of these sequelae, the importance of early diagnosis and prevention with anticoagulation is crucial to prevent morbidity and mortality.


2021 ◽  
Author(s):  
Larissa Maria Oliveira Gonzaga ◽  
Ana Luisa Bagno de Almeida ◽  
Aurivan Essado Dantas ◽  
Carolina Ruas Freire Santos ◽  
Anna Carolina Faria Moreira Gomes Tavares ◽  
...  

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