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Hereditary hemorrhagic telangiectasia (HHT), also known as Osler–Weber–Rendu disease, is a rare disorder with a case prevalence as high as one in 5000, causing arteriovenous malformations in multiple organ systems. HHT is familial with autosomal dominant inheritance, with genetic testing allowing confirmation of the diagnosis in asymptomatic kindreds. Common clinical manifestations are epistaxis and intestinal lesions causing anemia and requiring transfusions. Pulmonary vascular malformations predispose to ischemic stroke and brain abscess and may cause dyspnea and cardiac failure. Brain vascular malformations can cause hemorrhagic stroke and seizures. Rarely, liver arteriovenous malformations can cause hepatic failure. A form of HHT can cause juvenile polyposis syndrome and colon cancer. Specialists in multiple fields may be called to care for one or more aspects of HHT, but few are familiar with evidence-based guidelines for HHT management or see a sufficient number of patients to gain experience with the unique characteristics of the disease. Primary care physicians and specialists are often unaware of the important manifestations of HHT in multiple systems and the thresholds for their screening and appropriate management. To improve familiarity, experience, and coordinated multisystem care for patients with HHT, the Cure HHT Foundation, which advocates for patients and families with this disease, has accredited 29 centers in North America with designated specialists for the evaluation and care of patients with HHT. Team assembly and current screening and management protocols are described as a model for evidence-based, multidisciplinary care in this disease. [ABSTRACT FROM AUTHOR]

Objective: To investigate if the low dose (1 µg) ACTH stimulation test appropriately assesses adrenal responsiveness in neonates undergoing open-heart surgery requiring cardio-pulmonary bypass., Design: In this retrospective study, adrenal axis response was assessed on the first post-operative day with the low-dose (1 µg) ACTH stimulation test. Age, gender, weight, RACHS category, inotrope score, and baseline and post-stimulation cortisol levels were collected. The association between basal serum cortisol levels and degree of response to the ACTH stimulation test was also investigated., Setting: Tertiary care referral center., Patients: Twenty-one neonates who underwent neonatal cardiac surgery on cardiopulmonary bypass and underwent an ACTH stimulation test. Interventions.  Hydrocortisone 50 mg/m(2) bolus in four divided doses daily., Outcome Measures: Response to the low dose (1 µg) ACTH stimulation was assessed., Results: All neonates with hemodynamic instability in the immediate post-operative period had low basal serum cortisol levels. The basal mean serum cortisol level for the 21 patients who underwent the low dose ACTH stimulation test was 7.3 µg/dL (median 2.2, range 0.7-42). The mean serum cortisol level increased after the ACTH stimulation test in the 21 patients to 39.6 µg/dL (median 38, range 79-17). The mean inotrope score in the first 24 hours after surgery was 24 (median 17.5, range 7-76.5) and decreased to 17 (median 14, range 5-52.3) 24-48 hours after surgery. At 48 hours post-surgery the mean arterial pressure in the groups with a serum cortisol increase after ACTH stimulation (<30 µg/dL vs. >50 µg/dL) was significantly different (P value 0.026)., Conclusions: The low dose (1 µg) ACTH stimulation test is a valid test to assess adrenal responsiveness among neonates after open heart surgery requiring CPB. Traditionally used basal serum cortisol level cutoff of <20 µg/dL used to define relative adrenal insufficiency may not be applicable in neonates undergoing open heart surgery on CPB thus indicating the need for re-defining adrenal insufficiency in this patient population.