Hereditary haemorrhagic telangiectasia and SMAD4 mutation in a patient with complex single ventricle heart disease.

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.

Prevalence of asymptomatic celiac disease in children with fibromyalgia: a pilot study.

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.