Missense variants in the spectrin repeat domain of DSP are associated with arrhythmogenic cardiomyopathy: A family report and systematic review.

Rare loss of function variants in DSP, which codes for the desmosomal protein desmoplakin, have been implicated in dilated and arrhythmogenic right ventricular cardiomyopathies. We present a family with arrhythmogenic cardiomyopathy associated with a novel missense variant in DSP (NM_004415.4): c.

Multimodality Noninvasive Imaging of Thoracic Aortic Aneurysms: Time to Standardize?

Aortic imaging is an essential part of a surveillance program for patients with a confirmed or suspected aortopathy because aortic size is crucial for predicting the risk of death, aortic rupture, or aortic dissection. Noninvasive aortic imaging relies on transthoracic and transesophageal echocardiography, cardiovascular magnetic resonance and computed tomography (CT) imaging. Echocardiography and cardiovascular magnetic resonance offer comprehensive anatomical and functional evaluation of the heart, aortic valve, and aorta, and CT is more limited to anatomical data.

A primer to common major gastrointestinal post-surgical anatomy on CT-a pictorial review.

The post-operative abdomen can be challenging and knowledge of normal post-operative anatomy is important for diagnosing complications. The aim of this pictorial essay is to describe a few selected common, major gastrointestinal surgeries, their clinical indications and depict their normal post-operative computed tomography (CT) appearance. This essay provides some clues to identify the surgeries, which can be helpful especially when surgical history is lacking: recognition of the organ(s) involved, determination of what was resected and familiarity with the type of anastomoses used.