Aortic stenosis (AS) is characterized by restricted motion and calcification of the aortic valve and is the deadliest valvular cardiac disease. Assessment of AS severity is typically done by expert cardiologists using Doppler measurements of valvular flow from echocardiography. However, this limits the assessment of AS to hospitals staffed with experts to provide comprehensive echocardiography service. As accurate Doppler acquisition requires significant clinical training, in this paper, we present a deep learning framework to determine the feasibility of AS detection and severity classification based only on two-dimensional echocardiographic data. We demonstrate that our proposed spatio-temporal architecture effectively and efficiently combines both anatomical features and motion of the aortic valve for AS severity classification. Our model can process cardiac echo cine series of varying length and can identify, without explicit supervision, the frames that are most informative towards the AS diagnosis. We present an empirical study on how the model learns phases of the heart cycle without any supervision and frame-level annotations. Our architecture outperforms state-of-the-art results on a private and a public dataset, achieving 95.2% and 91.5% in AS detection, and 78.1% and 83.8% in AS severity classification on the private and public datasets, respectively. Notably, due to the lack of a large public video dataset for AS, we made slight adjustments to our architecture for the public dataset. Furthermore, our method addresses common problems in training deep networks with clinical ultrasound data, such as a low signal-to-noise ratio and frequently uninformative frames. Our source code is available at: https://github.com/neda77aa/FTC.git.

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the galactosidase A (GLA) gene that result in deficient galactosidase A enzyme and subsequent accumulation of glycosphingolipids throughout the body. The result is a multi-system disorder characterized by cutaneous, corneal, cardiac, renal, and neurological manifestations. Increased left ventricular wall thickness represents the predominant cardiac manifestation of FD. As the disease progresses, patients may develop arrhythmias, advanced conduction abnormalities, and heart failure. Cardiac biomarkers, point-of-care dried blood spot testing, and advanced imaging modalities including echocardiography with strain imaging and magnetic resonance imaging (MRI) with T1 mapping now allow us to detect Fabry cardiomyopathy much more effectively than in the past. While enzyme replacement therapy (ERT) has been the mainstay of treatment, several promising therapies are now in development, making early diagnosis of FD even more crucial. Ongoing initiatives involving artificial intelligence (AI)-empowered interpretation of echocardiographic images, point-of-care dried blood spot testing in the echocardiography laboratory, and widespread dissemination of point-of-care ultrasound devices to community practices to promote screening may lead to more timely diagnosis of FD. Fabry disease should no longer be considered a rare, untreatable disease, but one that can be effectively identified and treated at an early stage before the development of irreversible end-organ damage.