Case Series: Recurrence of Cardiac Sarcoidosis After Orthotopic Heart Transplantation.

Orthotopic heart transplantation for cardiac sarcoidosis (CS) is becoming increasingly common. Historically, there have been concerns regarding disease recurrence within the allograft. Although rarely reported in the literature, cases of recurrent CS tend to be observed in patients after dose reduction of immunosuppressive therapy and cessation of corticosteroids. Here, we present 2 cases of recurrent CS after orthotopic heart transplantation, confirmed on endomyocardial biopsy. Case 1 reports a 50-year-old man with a fulminant course of giant cell myocarditis who developed allograft recurrence with granulomas 5 years after transplantation despite maintenance corticosteroid therapy. Case 2 reports a 47-year-old man with CS who developed recurrence with the presence of giant cells 2 years after transplantation, with a benign clinical course. With these cases, we demonstrate the clinical overlap between CS and giant cell myocarditis and highlight the spectrum of the disease process. We also demonstrate that CS can recur despite corticosteroid maintenance therapy.

Left-sided valvular heart disease and retinopathy in a 38-year-old woman with attenuated mucopolysaccharidosis: a case report.

Mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage disorders caused by deficient levels and/or activity of glycosaminoglycan (GAG)-degradative enzymes. MPS are characterized by accumulation of the mucopolysaccharides heparan sulfate, dermatan sulfate, keratan sulfate, or chondroitin sulfate in tissues. We report the case of a 38-year-old woman with a history of joint restriction and retinitis pigmentosa who developed bivalvular heart failure requiring surgery. It was not until pathological examination of surgically excised valvular tissue that a diagnosis of MPS I was made. Her musculoskeletal and ophthalmologic symptoms, when placed in the context of MPS I, painted the diagnostic picture of a genetic syndrome that was overlooked until a diagnosis was made in late middle age.

• A 38-year-old woman with heart failure had heart valve surgery. Examining her cardiac valve tissue under the microscope suggested a metabolic disorder called mucopolysaccharidosis type I (MPS I). • MPS I is due to defective breakdown of sugar molecules (called glycosaminoglycans or GAGs for short) in the body which then can accumulate, causing dysfunction. • Our patient had short stature, a curved spine, stiff joints, and a degenerative eye disease called retinitis pigmentosa, all of which were due to her undiagnosed MPS I. • Most patients with MPS I are discovered on newborn screening when they are babies, or at very young ages due to severe symptoms related to the disease. • Our patient had a form of MPS I that was less severe, and the first symptom she received medical care for was her eye symptoms. • A diagnosis of MPS I made in middle adulthood is unusual for MPS I, and so is an important learning case for providers as there were clues hidden in her medical history that suggested a genetic or inherited syndrome. • Our genetics specialists were able to make a definitive diagnosis of MPS I and begin treatment with enzyme replacement therapy, as well as provide information for the patient about her risk of passing this disease on to children.

Prevalence and Outcomes of Bicuspid Aortic Valve in Patients With Aneurysmal Sub-Arachnoid Hemorrhage: A Prospective Neurology Registry Report.

Background Intracranial aneurysms are reported in 6%-10% of patients with bicuspid aortic valve (BAV), and routine intracranial aneurysm surveillance has been advocated by some. We assessed the prevalence and features of the most important patient-outcome: aneurysmal sub-arachnoid hemorrhage (aSAH), as compared with controls without aSAH, and tricuspid aortic valve (TAV) with aSAH. Methods and Results Adult patients with accurate diagnosis of aSAH and at least one echocardiogram between 2000 and 2019 were identified from a consecutive prospectively maintained registry of aSAH admissions. Controls without a diagnosis of SAH were age- and sex-matched. BAV prevalence was confirmed echocardiographically. Severity of aSAH was categorized using modified Fisher and World Federation of Neurological Scale. Neurologic outcome was assessed using modified Rankin score. A total 488 aSAH cases and 990 controls were identified and BAV status was confirmed. Prevalence of BAV in patients with aSAH was 1.2% (6/488) versus 3.5% (35/990) in controls, P=0.01. BAV+aSAH were noted to be younger than TAV+aSAH (56±11 versus 68±14; P=0.03) with smaller aneurysms (5±2 versus 7±4; P=0.31). The severity of aSAH was lesser in BAV+aSAH than TAV (modified Fisher grade>2 50% versus 74%; P=0.19, World Federation of Neurological Scale grade>3 17% versus 36%; P=0.43). BAV+aSAH had less severe neurologic disability (modified Rankin score 3%-6 33% versus 49% in TAV; P=0.44) and comparable in-hospital mortality rates (P=0.93). BAV had lower odds for aSAH on multivariate analysis (odds ratio 0.23[CI 0.08-0.65]; P=0.01). Conclusions Prevalence of BAV was 3 times lower in the aSAH registry than in controls without aSAH. BAV+aSAH had clinically smaller aneurysms, clinically smaller bleeds, and better neurologic outcome as compared with TAV+aSAH, which needs to be confirmed in larger studies. These findings argue against routine surveillance for intracranial aneurysms in patients with BAV without aortic coarctation.

Non-Neoplastic and Neoplastic Cysts of the Pancreas.

Inflammatory, developmental, and neoplastic lesions may all present as cystic masses on imaging. Pseudocyst is the most common of these and presents in association with a history of pancreatitis. Pancreatic cystic neoplasms are uncommon compared to solid neoplasms. They often present incidentally; therefore, an incidentally discovered cyst in the pancreas should be assessed with a high index of suspicion for neoplasm. The most common and frequently encountered cystic neoplasms include serous cystadenoma, mucinous cystic neoplasm, and intraductal papillary mucinous neoplasm. Less common epithelial cystic neoplasms include acinar cell cystadenoma and cystadenocarcinoma. Any solid neoplasm occurring in the pancreas or vicinity of the pancreas that has undergone cystic degeneration may present as a cystic mass. Non-epithelial lesions, such as lymphangioma, are also included in the differential diagnosis. The work-up needs to begin with a review of the clinical and imaging findings to establish a differential diagnosis. The primary focus of the pathologist will be first on differentiating mucinous from non-mucinous entities, since this will determine if the mass is an intraductal papillary mucinous neoplasm or a mucinous cystic neoplasm. If it is mucinous, the next step is to determine if the cystic neoplasm contains cells with high-grade cytological features. If it is non-mucinous, the pathologist needs to assess for neoplastic cells that would indicate a different neoplastic process. The cytological features need to be integrated with cyst fluid carcinoembryonic antigen and amylase measurements. Currently, molecular pathology is being integrated into the analysis of pancreatic cyst fluids. Here we will cover the cytological features and ancillary findings in cystic masses of the pancreas.

Non-Neoplastic Masses of the Pancreas.

Benign non-neoplastic solid lesions of the pancreas are comprised of several separate entities, with their diagnostic identification best performed in correlation with the radiographic and clinical features. These include all of the pancreatitides, intrapancreatic spleen, and a few other rare entities. Preoperative imaging may suggest the correct diagnosis, but occasionally the preoperative imaging findings may be misleading because they overlap with those of pancreatic neoplasms. Masses associated with typical pancreatitides are rarely sampled due to their distinct clinical picture and relative frequency; however, the uncommon variants of pancreatitis may also present as mass lesions mimicking malignancy. Herein, we will discuss the cytopathologic findings of several solid pancreatic lesions, including acute pancreatitis, chronic pancreatitis, autoimmune pancreatitis, paraduodenal or groove pancreatitis, and other mass lesions, such as intrapancreatic accessory spleen and abscess. The key cytological features, ancillary studies, and differential diagnoses will also be discussed.