Artificial intelligence-enabled tools in cardiovascular medicine: A survey of current use, perceptions, and challenges.

Background: Numerous artificial intelligence (AI)-enabled tools for cardiovascular diseases have been published, with a high impact on public health. However, few have been adopted into, or have meaningfully affected, routine clinical care. Objective: To evaluate current awareness, perceptions, and clinical use of AI-enabled digital health tools for patients with cardiovascular disease, and challenges to adoption. Methods: This mixed-methods study included interviews with 12 cardiologists and 8 health information technology (IT) administrators, and a follow-on survey of 90 cardiologists and 30 IT administrators. Results: We identified 5 major challenges: (1) limited knowledge, (2) insufficient usability, (3) cost constraints, (4) poor electronic health record interoperability, and (5) lack of trust. A minority of cardiologists were using AI tools; more were prepared to implement AI tools, but their sophistication level varied greatly. Conclusion: Most respondents believe in the potential of AI-enabled tools to improve care quality and efficiency, but they identified several fundamental barriers to wide-scale adoption.

Drug Discovery and Development in Rare Diseases: Taking a Closer Look at the Tafamidis Story.

Rare diseases are increasingly recognized as a global public health priority. Governments worldwide currently provide important incentives to stimulate the discovery and development of orphan drugs for the treatment of these conditions, but substantial scientific, clinical, and regulatory challenges remain. Tafamidis is a first-in-class, disease-modifying transthyretin (TTR) kinetic stabilizer that represents a major breakthrough in the treatment of transthyretin amyloidosis (ATTR amyloidosis). ATTR amyloidosis is a rare, progressive, and fatal systemic disorder caused by aggregation of misfolded TTR and extracellular deposition of amyloid fibrils in various tissues and organs, including the heart and nervous systems. In this review, we present the successful development of tafamidis spanning 3 decades, marked by meticulous laboratory research into disease mechanisms and natural history, and innovative clinical study design and implementation. These efforts established the safety and efficacy profile of tafamidis, leading to its regulatory approval, and enabled post-approval initiatives that further support patients with ATTR amyloidosis.

Transthyretin amyloid cardiomyopathy in women: frequency, characteristics, and diagnostic challenges.

Transthyretin amyloid cardiomyopathy (ATTR-CM) is a progressive, life-threatening disease characterized by deposition of insoluble amyloid fibrils in the myocardium, resulting in cardiac structural and functional abnormalities and ultimately heart failure. Disease frequency is reportedly lower in women than men, but sex-related differences have not been well established. We conducted a systematic literature review (SLR), based on PRISMA-P guidelines and registered with PROSPERO, to assess whether the epidemiology and clinical presentation of ATTR-CM differ between women and men. MEDLINE, Embase, and Cochrane databases and selected conference proceedings were searched (August 16, 2019) to identify observational and clinical studies reporting sex-specific data for patients with wild-type or hereditary ATTR-CM. Of 193 publications satisfying final eligibility criteria, 69 studies were included in our pooled analysis. Among the 4669 patients with ATTR-CM analyzed, 791 (17%) were women, including 174 (9%), 366 (29%), and 251 (18%) in studies of wild-type, hereditary, and undefined ATTR-CM, respectively. Data available on disease characteristics were limited and very heterogeneous, but trends suggested some cardiac structural/functional differences, i.e., lower interventricular septal and posterior wall thickness and left ventricular (LV) end diastolic diameter, and higher LV ejection fractions, in women versus men across ATTR-CM subtypes. Because LV wall thickness > 12 mm is generally the suggested threshold for ATTR-CM diagnosis in both sexes, smaller cardiac anatomy in women with the disease may lead to underdiagnosis. Additional research and studies are needed to elucidate potential disparities between sexes in ATTR-CM frequency, clinical characteristics, and underlying biological mechanisms. This study was registered within the International Prospective Register of Systematic Reviews (PROSPERO) database of the University of York (CRD42019146995).