Left atrial appendage thrombosis in a patient with Friedreich Ataxia–related cardiomyopathy, left ventricular systolic dysfunction, and atrial fibrillation

. Michele Russo, Annachiara Nuzzo, Matteo Foschi, Simona Boarin, Stefano Lorenzetti, Corrado Tomasi, Pietro Querzani, Andrea Rubboli. SAGE Open Medical Case Reports. January 2021. doi:10.1177/2050313X211056419 

We present the case of a 45-year-old man with a history of paroxysmal atrial fibrillation and a congestive heart failure, hypertension, age ⩾ 75 years, diabetes mellitus, stroke, vascular disease, age 65–74 years, and female sex (CHA2DS2-VASc) score of only 1 (because of reduced left ventricular ejection fraction) who presented with pneumonia and was also found to have atrial fibrillation with a rapid ventricular response. Despite already being on long-term therapy with a non-vitamin K-antagonist oral anticoagulant, a transesophageal echocardiogram showed a mobile floating thrombus in the left atrial appendage. In accordance with previous necropsy evidence of thrombosis and thromboembolism in Friedreich ataxia subjects who likely have had only non-sex-related CHA2DS2-VASc score ⩽1, this case suggests that the risk of thromboembolism in Friedreich ataxia subjects with atrial fibrillation may not be adequately predicted by the sole CHA2DS2-VASc score.

Tract-Specific Spinal Cord Diffusion Tensor Imaging in Friedreich's Ataxia

Ana Luisa C.C. Hernandez MD,Thiago J.R. Rezende PhD,Alberto R.M. Martinez MD, PhD,Mariana R. de Brito MD,Marcondes C. França Jr MD, PhD; Mov Disord. doi:10.1002/mds.28841 

DTI uncovered abnormalities in SC WM tracts, which correlated with clinical features in FRDA. CSA and CST FA in C2 correlated best with disease severity, whereas DC FA showed the largest effect size to differentiate patients and healthy controls. SC WM microstructure is a potential neuroimaging biomarker to be explored in the disease.