The Association of Alagille Syndrome and Craniosynostosis

Alagille syndrome is associated with various ocular abnormalities, including pseudopapilledema or optic disk edema due to increased intracranial pressure. Several mechanisms have been proposed to explain the mechanism of intracranial hypertension in Alagille syndrome. Craniosynostosis is an unusual but significant cause of increased intracranial hypertension in Alagille syndrome. It has recently been demonstrated in animal models that Jagged1 gene in which mutations are responsible for Alagille syndrome may also take part in cranial suture formation. We report a child with Alagille syndrome and craniosynostosis who presented with pruritus, elevated liver enzymes, and suspected increased intracranial pressure.     

Apical hypertrophic cardiomyopathy might lead to misdiagnosis of ischaemic heart disease

Purpose In this study, demographic, clinic, electrocardiographic and angiographic properties of patients, on whom coronary angiography was performed with the pre-diagnosis of coronary artery disease (CAD) and whose ventriculography demonstrated typical apical hypertrophic cardiomyopathy (AHCM), were investigated. Methods Seventeen patients (mean age 58 +/- 10 years, 10 male) with CAD pre-diagnosis, on whom coronary angiography was performed and had typical spade-like appearance on left ventriculography, were included in the study between January 2000 and May 2005. Results As risk factor for CAD, 8 (47%) patients had hypertension, 8 (47%) patients had dyslipidaemia, 2 (11%) patients had type 2 diabetes mellitus, 13 (77%) patients had a history of smoking, and 2 (11%) patients had family history. Seven (42%) patients presented unstable angina pectoris, 8 (47%) patients presented stable angina pectoris and 2 (11%) patients were asymptomatic. On coronary angiography, it was determined that 10 (58%) patients had normal coronary arteries, 3 (17%) patients had non-significant stenosis and 4 (25%) patients had myocardial bridging. Five (30%) patients revealed mid-ventricular obstruction and intraventricular gradient was 25 +/- 5 mmHg by the catheterization. All patients showed 'giant' negative (>/= 10 mm) T waves in the precordial leads, whereas 2 patients had atrial fibrillation. Maximum wall thickness was measured as 18 +/- 4 mm in the apical region by transthoracic echocardiography. One patient (5%) who had mid-ventricular obstruction developed atrial fibrillation during 2 years follow-up, though any other events did not occur during hospitalization or follow-up period. Conclusions Physicians caring for patients with chest pain should consider AHCM in their differential diagnosis in case of a patient with chest pain and electrocardiographic changes suggestive of CAD.