THE HEART OF IT ALL: DILATED CARDIOMYOPATHY AS THE INITIAL PRESENTATION OF ANTIPHOSPHOLIPID SYNDROME

PV280 / #741 Case Report Poster Topic: AS03 - Antiphospholipid Syndrome Late-Breaking Abstract Introduction Cardiac manifestations in primary antiphospholipid syndrome (APS) range from mild valvular disease, to more devastating disorders associated with morbidity and mortality. Cardiomyopathy has seldom been reported as the initial manifestation of the disease. Therefore, we present the case of a 47 year-old lady with dilated cardiomyopathy (DCM) as the initial presentation of APS. Case Presentation With Investigation A 47-year-old lady, previously healthy with no known comorbidities, presented with acute dyspnea. This started hours prior to presentation. She described orthopnoea as well as gradual worsening of lower limb edema in the preceding days. The patient had no cardiac family history, and was a nonsmoker and teetotal. Chest auscultation revealed crackles up till the lung apices. Further examination confirmed an elevated jugular venous pulse, as well as pitting lower limb edema extending to the thighs bilaterally. Oxygen saturations were 89% on room air, correcting with oxygen. Inspection revealed livedo reticularis of the thighs and arms. A bedside echocardiogram revealed severe diastolic dysfunction. An NT-proBNP assay was elevated at 35,000 pg/mL. The patient was admitted under the cardiologists for diuresis and investigation. The patient underqent a coronary angiogram, which showed fully patent coronary arteries. A Cardiac MRI confirmed the presence of an advanced DCM, with thickening of the mitral and tricuspid valvular apparatus. Rheumatology was consulted in view of these findings. The patient tested positive for lupus anticoagulant, anti-β2 glycoprotein antibodies (IgG and IgM > 200 IU/mL) and anticardiolipin antibodies (IgG and IgM > 120 IU/mL). A double-stranded DNA antibody assay was negative, with normal complement protein levels. She denied a history of thrombotic episodes and miscarriages. A diagnosis of primary APS causing DCM was made, and warfarin, corticosteroids, mycophenolate mofetil and heart failure optimization were initiated. The patient subsequently improved and was discharged home. Literature Review The etiological basis of DCM in APS is hypothesized to be microvascular thrombotic insults,[1] as evidenced by autopsy studies. Recurrent microthrombotic inflammatory activity has been associated with a risk of progression to DCM, with contributions from myofibroblasts and fibromuscular remodeling of the myoendocardium. Tumor necrosis factor alpha and transforming growth factor beta are the main cytokines implicated in this process. APS patients, particularly primary APS patients and those with strongly positive serology, have been shown to exhibit asymptomatic diastolic dysfunction in up to 20% of cases.[1] This suggests that the remodeling changes in the myocardium are asymptomatic and subclinical, yet capable of having catastrophic consequences. Immunosuppression and anticoagulation have shown success in the sparse case reports of APS-DCM in the literature, particularly with mycophenolate and IVIG.[1] Discussion The key learning points from this case are: 1. All women of middle-age and younger, presenting or having been diagnosed with DCM, should be screened for APS. 2. Cardiac MRI was, in this case, a reliable surrogate to endomyocardial biopsy. Further studies are needed to validate this. 3. Female sex, younger age and strongly positive serology are associated with an increased risk of DCM in APS patients. 4. Up to 20% of APS patients can have subclinical diastolic dysfunction. The authors recommend echocardiographic screening in view of the events of this case. 5. The etiology of APS-DCM is related to microvascular thrombosis, and therefore coronary angiography and macrovascular imaging will be normal in such cases. 6. Management involves warfarinization and immunosuppression with steroids and DMARDs. Reference: [1.] Coletto L. Autoimmun Rev 2022;21:102990.

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