Palpitations as a presenting feature of multisystem sarcoidosis.

Introduction: Sarcoidosis is described as a systemic condition characterized by non-caseating granulomas in multiple organs. In this report, we present an unusual manifestation of cardiac sarcoidosis and review management strategies. Case presentation: A 29-year-old African-American man presented with weight loss, fatigue, dyspnea, palpitations, night sweats, painless left eye redness and bilateral leg pain over the course of three months. His physical exam revealed left conjunctival congestion and bilateral crackles on auscultation. Computerized tomography of the chest showed severe parenchymal disease with bilateral fibrotic bands. Bronchoscopy and transbronchial biopsy revealed noncaseating granulomas and multinucleated giant cells, confirming sarcoidosis. Non-sustained ventricular tachycardia developed. Cardiac MRI showed myocardial delayed gadolinium enhancement. He responded to methotrexate and steroid therapy. An implantable cardioverter-defibrillator was placed. Discussion: Although cardiac sarcoidosis manifests in only 5% of sarcoidosis, autopsy reports indicate subclinical cardiac involvement in up to 30%. There are no established criteria for diagnosis of cardiac sarcoidosis. Conclusion: Early recognition and diagnosis of cardiac sarcoidosis is challenging but vital due to unpredictability and high risk for malignant cardiac involvement. Newer diagnostic imaging modalities have further aided in earlier identification and prevention of sudden cardiac death.

Childhood Polyarthritis As Early Manifestation of Autoimmune Polyendocrinopathy with Candidiasis and Ectodermal Dystrophy Syndrome.

Autoimmune polyendocrinopathy with candidiasis and ectodermal dystrophy (APECED) is a rare disorder of immune dysregulation caused by mutations in the autoimmune regulator (AIRE) gene. Individuals affected with APECED develop a clinical syndrome characterized by ectodermal abnormalities, autoantibody production, and organ-specific autoimmune manifestations. Inflammatory arthritis is usually not described as a part of the syndrome, and only sporadic cases are reported. We describe the case of a preschool-age girl who presented with hypoparathyroidism, hepatitis, interstitial pneumonitis, and chronic polyarthritis at 4 years of age and was found to have two compound heterozygous disease-associated mutations in the AIRE gene. We also conducted a literature review of the main characteristics of inflammatory arthritis in APECED patients. Our case and review demonstrate that (1) inflammatory arthritis, although rare, can be an early manifestation of APECED; (2) the diagnosis of APECED should be considered if mucocutaneous candidiasis, multiple organ-specific autoimmune manifestations, polyendocrinopathy, especially hypoparathyroidism or adrenal failure, or ectodermal dystrophy accompany joint symptoms; and (3) genotyping interpretation should take into account that mutations are found in the 14 exons of the gene, compound heterozygosity is common, and in some cases, only one or no mutated alleles are found.

Lyme disease presenting with facial palsy and myocarditis mimicking myocardial infarction.

A 45-year-old woman presented with a sudden episode of typical chest pain, radiating to her neck. The patient denied premature coronary artery disease in the family. Initial EKG showed normal sinus rhythm with a 1 mm ST-elevation involving lead II and lead aVF and a 1 mm ST-depression in lead V1 with associated T-wave inversion. Initial Troponin I (normal <0.4 ng/mL) and CK-MB (normal <7.7 ng/mL) were elevated at 7.82 ng/mL and 55.2 ng/mL, respectively. Six hours later, Troponin I increased to 13.44 ng/mL and CK-MB to 75.7 ng/mL. The patient underwent cardiac catheterization which did not show any significant obstructive coronary artery disease. Two days later the patient developed right-sided facial palsy. Diagnosis of Lyme disease was confirmed by ELISA with positive IgM and IgG antibodies. Treatment with intravenous ceftriaxone and oral steroids was started. Eventually resolution of symptoms and, normalization of cardiac markers and EKG changes, were achieved. This is a rare case of Lyme myocarditis associated with markedly elevated Troponin I, normal left ventricle function, and an absence of conduction abnormalities. To the best of our knowledge, Lyme myocarditis mimicking acute coronary syndrome with such high levels of Troponin I and neurologic compromise has not been previously described. Lyme myocarditis may be a challenging diagnosis in endemic areas especially in patients with coronary artery disease risk factors, presenting with typical chest pain, EKG changes and positive cardiac biomarkers. Therefore, it should be considered a differential diagnosis in patients presenting with clinical symptoms suggestive of acute coronary syndrome. Abbreviations AV: Atrioventricular; CK-MB: Creatinine Kinase-MB; EKG: Electrocardiogram; ELISA: Enzyme-Linked Immunosorbent Assay; IgG: Immunoglobulin G; IgM: Immunoglobulin M.