Publications by authors named "S L Christian"
Aims: Patients with cardiomyopathies are a heterogeneous group of patients who experience high morbidity and mortality. Early cardiac assessment and intervention with access to genetic counselling in a multidisciplinary Cardiomyopathy Clinic may improve outcomes and prevent progression to advanced heart failure.
Methods And Results: Our prospective cohort study was conducted at a multidisciplinary Cardiomyopathy Clinic with 421 patients enrolled (42.
Gene therapies are being developed for several central nervous system (CNS) disorders. These therapies are primarily administered to the CNS via the cerebrospinal fluid (CSF), as the blood-brain barrier prevents the transport of large molecules to the brain. Currently, intrathecal injection is the most commonly used route of administration over cisterna magna injections in the clinic for gaining access to the CSF.
View Article and Find Full Text PDFThe rising demand for genetic counseling has prompted the implementation of various innovative service delivery models, such as patient webinars, videos, chatbots, and the integration of genetic testing into mainstream healthcare. To ensure patients receive adequate information for informed decision-making, validated measures to assess these models are essential but currently limited in the setting of inherited heart disease. We aimed to develop and initiate validation of a cardiac knowledge scale, as part of the Multidimensional Model of Informed Choice measure, to assess whether patients (probands and family members) with inherited cardiomyopathies, arrhythmias, and aortopathies are provided with sufficient knowledge to make informed decisions about genetic testing.
View Article and Find Full Text PDFBackground: Familial hypercholesterolemia (FH) is a common genetic disorder, yet it remains largely underdiagnosed in Canada. Multiple national and international guidelines recommend the use of clinical genetic testing for FH. However, the level of its accessibility and use within Canada is unclear.
View Article and Find Full Text PDFArticle Synopsis
- Hypertrophic cardiomyopathy (HCM) is a hereditary heart condition affecting about 1 in 500 adults, showing a wide range of symptoms from mild to severe, including potential heart failure and sudden death.
- Advances in DNA sequencing have made genetic testing for HCM more accessible, although its use in clinical practice is limited outside specialized centers.
- The text emphasizes the importance of integrating genetic testing and counseling into patient care for HCM, providing guidelines for healthcare professionals to effectively navigate test selection, variant classification, and cascade testing.