ABSTRACT
We report a case of hypoplastic left heart syndrome and with subsequent aortopathy and then found to have hereditary haemorrhagic telangiectasia/juvenile polyposis syndrome due to a germline SMAD4 pathologic variant. The patient's staged palliation was complicated by the development of neoaortic aneurysms, arteriovenous malformations, and gastrointestinal bleeding thought to be secondary to Fontan circulation, but workup revealed a SMAD4 variant consistent with hereditary haemorrhagic telangiectasia/juvenile polyposis syndrome. This case underscores the importance of genetic modifiers in CHD, especially those with Fontan physiology.
Subject(s)
Heart Diseases , Telangiectasia, Hereditary Hemorrhagic , Univentricular Heart , Humans , Telangiectasia, Hereditary Hemorrhagic/complications , Telangiectasia, Hereditary Hemorrhagic/diagnosis , Telangiectasia, Hereditary Hemorrhagic/genetics , Univentricular Heart/complications , Mutation , Heart Diseases/complications , Smad4 Protein/geneticsABSTRACT
BACKGROUND: The objective of this study was to prospectively determine the prevalence of asymptomatic celiac disease among children presenting with fibromyalgia. The secondary objective was to investigate if their symptoms resolved on a gluten free diet. FINDINGS: All children seen in the Amplified Musculoskeletal Pain clinic between the ages of 12 and 17 years of age who fulfilled the 1990 American College of Rheumatology diagnostic criteria for fibromyalgia were invited to participate. A total immunoglobulin A (IgA) level, IgA antiendomysial (EMA) and IgA anti-TTG antibodies was obtained on all study subjects. A visual analog scale for pain and a functional disability inventory were obtained on all patients. If a patient had elevated EMA or TTG a small bowel biopsy was done. Patients with celiac disease were placed on a gluten-free diet and observed to see if their symptoms resolved.50 patients, 45 females, completed the study. Only one patient was found to have celiac disease. On a gluten-free diet her tissue transglutaminase antibody level returned to normal but her visual analog scale scores increased and her functional disability inventory was 40 initially and 21 at follow up. CONCLUSIONS: In this pilot, single center study at a tertiary children's hospital patients with fibromyalgia do not seem to have occult celiac disease at an increased rate over the population as a whole.
