350 research outputs found
Publisher Correction: Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy (Scientific Reports, (2019), 9, 1, (4093), 10.1038/s41598-019-39911-x)
No full textIn the original version of this Article, the author J. Peter van Tintelen was incorrectly indexed. This error has now been corrected
The Genetics of Mitral Valve Prolapse
No full textMitral valve prolapse (MVP) is a common valvular heart disease that can be identified in up to 3% of individuals from the general population. It can present as an isolated phenomenon or as part of a larger spectrum of features like in connective tissue disorders. Its clinical phenotype is highly variable. In general MVP does not give any symptoms and has a good prognosis yet severe mitral insufficiency, heart failure, endocarditis, thromboembolic complications, and sudden cardiac death may occur. This happens particularly in a small subset of patients with bileaflet MVP syndrome which is mainly seen in young adult females, with bileaflet MVP, T wave abnormalities in the inferior leads, and polymorphic/RBBB morphology complex ventricular ectopy. Treatment of mitral insufficiency depends on severity, symptoms, and left ventricular dilatation or systolic function deterioration. Arrhythmias are treated medically, with catheter ablation or device therapy according to the guidelines. Ablation of ventricular ectopy can be useful for preventing symptoms and ICD shocks. Familial occurrence of MVP is not uncommon, yet true monogenic forms of MVP are rare. So far, DCHS1 FLNA and DZIP1A are the only genes described underlying autosomal dominant and X-linked forms of disease. Because the genetic architecture of MVP has not yet been elucidated, cardiologic screening in close family members of patients with MVP has to be considered
Clinical Cardiogenetics: Third Edition
No full textThis thoroughly revised third edition provides a comprehensive grounding on hereditary heart diseases with special emphasis on the genetic aspects of these conditions. It continues to provide the expertise that all cardiologists, clinical and molecular geneticists, and related medical professionals require to provide optimal care for patients with cardiac disease of genetic origin and for their relatives. Topics covered include the different cardiomyopathies, the primary arrhythmia syndromes and the hereditary thoracic aortic disorders. In addition other topics such as cardiac involvement in hereditary neuromuscular diseases, the clinical policy for sudden cardiac death and the possibilities of pre-implantation genetic diagnosis are included to extend the discussion. Clinical Cardiogenetics compiles current knowledge on the topic in an easy to understand reference. It provides a practical clinical primer for cardiologists, clinical geneticists, trainees and other physicians involved in the management of these patients
Therapeutic efficacy of AAV-mediated restoration of PKP2 in arrhythmogenic cardiomyopathy
No full textDNA-poli: Design and development of a digital platform for family communication support and predictive genetic counseling on inherited diseases
No full textOBJECTIVES: By developing a digital platform ("DNA-poli") we aim to improve the uptake and efficiency of predictive genetic counseling and cascade testing for relatives at-risk of inherited conditions. This is crucial for reducing disease morbidity and mortality while meeting the growing demand for genetic counseling. We outline the design, development, and final concept and prototype of DNA-poli and discuss the challenges faced and how these were addressed. METHODS: We followed an approach based on the Design Thinking and Human-Centered Design methods, which entails four stages: 1) Discover/Define, 2) Design, 3) Develop, and 4) Deliver. Stakeholders were actively involved through interviews, focus groups, and sounding board consultations. Two inherited cardiac conditions (hypertrophic cardiomyopathy and dilated cardiomyopathy) served as the first use case. RESULTS: The DNA-poli prototype is a digital outpatient clinic for predictive counseling on inherited conditions and cascade testing. It facilitates both pre-test and post-test genetic counseling, including information provision on specific conditions and tests, decision support, collecting medical information from a counselee, and return of results. ARRs can process relevant information online at their convenience and can request genetic tests locally after a short teleconsultation with a healthcare professional. A conversational agent is incorporated to answer questions and collect patient characteristics. CONCLUSIONS: DNA-poli is the first digital cardiogenetics platform to encompass the full genetic care pathway for family communication and predictive genetic counseling. Development challenges related to logistical implementation, ethical and legal considerations, and ensuring quality of care standards. PRACTICE IMPLICATIONS: DNA-poli allows timely, efficient, and flexible access to predictive counseling, supporting probands with informing their ARRs. ARRs have access to personalized information and modules to support decision-making at their convenience
Predicting personal cardiovascular disease risk based on family health history: Development of expert-based family criteria for the general population
No full textIn inherited and familial cardiovascular diseases (CVDs), relatives without current symptoms can still be at risk for early and preventable cardiovascular events. One way to help people evaluate their potential risk of CVD is through a risk-assessment tool based on family health history. However, family criteria including inherited CVD risk to be used by laypersons are non-existent. In this project, we employed a qualitative study design to develop expert-based family criteria for use in individual risk assessment. In the first phase of the project, we identified potential family criteria through an online focus group with physicians with expertise in monogenic and/or multifactorial CVDs. The family criteria from phase one were then used as input for a three-round Delphi procedure carried out in a larger group of expert physicians to reach consensus on appropriate criteria. This led to consensus on five family criteria that focus on cardiovascular events at young age (i.e., sudden death, any CVD, implantable cardioverter-defibrillator, aortic aneurysm) and/or an inherited CVD in one or more close relatives. We then applied these family criteria to a high-risk cohort from a clinical genetics department and demonstrated that they have substantial diagnostic accuracy. After further evaluation in a general population cohort, we decided to only use the family criteria for first-degree relatives. We plan to incorporate these family criteria into a digital tool for easy risk assessment by the public and, based on expert advice, will develop supporting information for general practitioners to act upon potential risks identified by the tool. [Figure not available: see fulltext.]
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