Validating the usefulness of Sudoscan in ATTRv: a single centre experience.

Background: Variant transthyretin amyloidosis (ATTRv) can cause sensorimotor and autonomic neuropathy. Objective quantification of sudomotor function may be essential for early diagnosis and early initiation of treatment. The aim of this study is to evaluate the diagnostic value of the Sudoscan® in ATTRv.

Val50Met hereditary transthyretin amyloidosis: not just a medical problem, but a psychosocial burden.

Background: Hereditary transthyretin (TTR) amyloidosis (ATTRv) is a heterogeneous disease with a clinical presentation that varies according to geographical area and TTR mutation. The symptoms of Val50Met-ATTRv are mainly neuropathic and progress to complete disability and death in most untreated patients within 10 to 15 years of diagnosis. The neurological effects may also be accompanied by gastrointestinal impairment, cardiomyopathy, nephropathy and/or ocular deposition.

Real-time three-dimensional transesophageal echocardiographic imaging of cor triatriatum and persistent left superior vena cava.

The authors describe the case of a 54-year-old woman with the association of two rare congenital cardiac anomalies: cor triatriatum and persistent left superior vena cava with the special characteristic of direct drainage to the right atrium. Real-time three-dimensional transesophageal echocardiography offered a comprehensive anatomic and functional evaluation of these infrequent entities.