AGS: Aicardi-Goutieres syndrome CTCL: cutaneous T-cell lymphoma SAMHD1: SAM domain and HD domaincontaining protein 1 SAMS: stroke, aneurysm, moyamoya, and stenosis SLE: systemic lupus erythematosus INTRODUCTION Mutations in the SAMHD1 (SAM domain and HD domainecontaining protein 1) gene are implicated in SAMS (stroke, aneurysm, moyamoya, and stenosis) association, also described as AicardiGouti...

Blau syndrome is a rare granulomatous disorder inherited in an autosomal dominant manner characterized by the early appearance of granulomatous arthritis, skin rash and anterior uveitis. There are very few data on the cardiovascular manifestations of Blau syndrome. Here we report the first case of sinus of valsava aneurysm in Blau syndrome. In isolated unruptured aneurysms of a sinus of Valsalv...

Holt-Oram syndrome is an autosomal dominant disorder, characterised by skeletal abnormalities of the upper limb associated with congenital heart defect, mainly atrial and ventricular septal defects. Skeletal defects exclusively affect the upper limbs in the preaxial radial ray distribution and are bilateral and asymmetrical. They range from clinodactyly, absent or digitalised thumb, hypoplastic...

Behcet's disease (BD) is characterized by recurrent oral and genital ulcers and uveitis. It is also known to affect various organs; however, central nervous system involvement is rare and may cause parenchymal or vascular lesions with distinct clinical syndromes. Various viral encephalitides are important differential diagnoses. MRI may aid the correct diagnosis. This case report describes a pa...

A previously well 33-year-old man with no history of trauma or substance abuse presented with poor right eye visual acuity, somnolence, and vomiting several hours after sudden onset of severe, persistent headache. Examination revealed only a right relative afferent papillary defect and subretinal blood on funduscopy (Terson syndrome, figure 1A). Hunt and Hess grade was 3. CT showed right subdur...

Ortner’s syndrome is a non-specific symptom of thoracic aortic aneurysm, therefore, it constitutes challenge — both, diagnostic and therapeutical for contemporary physicians. This paper presents the case 70-year-old patient reporting hoarse voice several months. Due to suspicion neoplastic disease, diagnostics were deepened during this diagnostic, an aneurysm descending aorta with concurrent in...

Aneurysms-osteoarthritis syndrome (AOS) caused by haploinsufficiency of SMAD3 is a recently described cause of syndromic familial thoracic aortic aneurysm and dissection (TAAD). We identified a novel SMAD3 mutation in a patient with hypoplastic left heart syndrome (HLHS) who developed progressive aortic aneurysm requiring surgical replacement of the neoaortic root, ascending aorta, and proximal...

1 Mogulkoc N, Burgess MI, Bishop PW. Intracardiac thrombus in Behcet’s disease: a systematic review. Chest 2000; 118: 479–487 2 Ahn JM, Im JG, Ryoo JW, et al. Thoracic manifestations of Behcet syndrome: radiographic and CT findings in nine patients. Radiology 1995; 194:199–203 3 Imai H, Sakakibara M, Yoshida K, et al. Magnetic resonance imaging of cardiovascular thrombi [in Japanese]. J Cardiog...

BACKGROUND To evaluate therapeutic outcomes of interferon alpha-2a (IFNα2a) treatment in patients with Behcet's disease who were refractory to immunosuppressive agents. METHODS This retrospective case series reviewed the medical records of 5 patients with refractory Behcet uveitis from January 2011 to February 2017. IFNα2a was administered at a dose of 3 million IU 3 times per week. Clinical ...

A recently recognized connective tissue disorder, Loeys-Dietz syndrome (LDS) is a genetic aortic aneurysm syndrome caused by mutations in the transforming growth factor-receptor type I or II gene (TGFBR1 or TGFBR2). They have distinctive phenotypic abnormalities including widely spaced eyes (hypertelorism), bifid uvula or cleft palate, and arterial tortuosity with aortic aneurysm or dissection ...