Stigma manifestations in cardiomyopathy care impact outcomes for black patients: a qualitative study.

INTRODUCTION: Inequities in clinical care may contribute to racial disparities observed in studies of heart disease morbidity and cardiogenetic testing outcomes. There is a lack of research aimed at understanding the complexity of those inequities, but stigma likely contributes. This qualitative exploratory study helps close that gap in the literature by describing intersectional stigma manifestations perceived by the Black cardiomyopathy patient population at one academic medical center. METHODS: Qualitative interviews were conducted with 14 Black cardiomyopathy patients. Interviews aimed to elicit patients' experiences with discrimination related to diagnosis, symptoms, genetic testing, knowledge of genetic results, genetic counseling, providers' actions, and providers' communication. The interview guide was informed by The Health Stigma and Discrimination Framework. Data were also collected about participant demographics, type of cardiomyopathy, age of diagnosis, documentation of relevant family history, and completion of genetic counseling and/or genetic testing. RESULTS: More than half of participants reported intersectional stigma manifestations related to their race, age, and/or weight while receiving care from cardiologists, nurse practitioners, genetic counselors, or clinical support staff. Stigma manifestations included physical roughness during patient care, withholding diagnostically-relevant information from the patient, impersonal care, coercion, and use of offensive stereotyped language by providers. These stigma manifestations impacted access to care, uptake of genetic testing, timeline to diagnosis, patient emotion, patient-provider trust, and adherence to medical recommendations. CONCLUSIONS: This study provides nuanced qualitative descriptions of stigma manifestations that affect patient and clinical outcomes in cardiology care and genetic services in one medical center in the Southeastern United States. The results of this study suggest that provider bias and stigma manifestations have an adverse effect on cardiogenetic and clinical outcomes among Black cardiomyopathy patients. Clinical interventions are suggested to assist health professionals in providing culturally-competent and respectful care. These results help inform patient-provider communication, clinical policies, and evidence-based practice in cardiology care and genetics. Continued study of this topic across more institutions and with a larger sample size is needed to confirm the generalizability of the conclusions.

Intellectual disability-associated UNC80 mutations reveal inter-subunit interaction and dendritic function of the NALCN channel complex.

The sodium-leak channel NALCN forms a subthreshold sodium conductance that controls the resting membrane potentials of neurons. The auxiliary subunits of the channel and their functions in mammals are largely unknown. In this study, we demonstrate that two large proteins UNC80 and UNC79 are subunits of the NALCN complex. UNC80 knockout mice are neonatal lethal. The C-terminus of UNC80 contains a domain that interacts with UNC79 and overcomes a soma-retention signal to achieve dendritic localization. UNC80 lacking this domain, as found in human patients, still supports whole-cell NALCN currents but lacks dendritic localization. Our results establish the subunit composition of the NALCN complex, uncover the inter-subunit interaction domains, reveal the functional significance of regulation of dendritic membrane potential by the sodium-leak channel complex, and provide evidence supporting that genetic variations found in individuals with intellectual disability are the causes for the phenotype observed in patients.