Read by QxMD icon Read


David Pickham, David Hsu, Muhammad Soofi, Jana M Goldberg, Divakar Saini, David Hadley, Marco Perez, Victor F Froelicher
PURPOSE: Sudden cardiac death is the leading cause of death in athletes. Long QT syndrome (LQTS) is one of the most common cardiogenetic diseases that can lead to sudden cardiac death and is identified by QT interval prolongation on an ECG. Recommendations for QT monitoring in athletes are adopted from nonathlete populations. To improve screening, ECG data of athletes are assessed to determine a more appropriate method for QT interval estimation. METHODS: ECG (CardeaScreen) data were collected from June 2010 to March 2015...
September 2016: Medicine and Science in Sports and Exercise
Ellen Otten, Erwin Birnie, Adelita V Ranchor, Irene M van Langen
Telemedicine applications are increasingly being introduced in patient care in various disciplines, including clinical genetics, mainly to increase access to care and to reduce time and costs for patients and professionals. Most telegenetics reports describe applications in large geographical areas, showing positive patients' and professionals' satisfaction. One economic analysis published thus far reported lower costs than in-person care. We hypothesized that telegenetics can also be beneficial from the professional's view in relatively small geographical areas...
August 2016: European Journal of Human Genetics: EJHG
Ellen Otten, Erwin Birnie, Adelita V Ranchor, Irene M van Langen
In recent years, online counselling has been introduced in clinical genetics to increase patients' access to care and to reduce time and cost for both patients and professionals. Most telegenetics reports so far evaluated online oncogenetic counselling at remote health centres in regions with large travelling distances, generally showing positive patient outcomes. We think online counselling--including the use of supportive tools that are also available during in-person counseling--of presymptomatic patients in their homes can also be feasible and valuable for patients in relatively small regions...
April 2016: European Journal of Human Genetics: EJHG
Matthias Wilhelm, Stephan A Bolliger, Christine Bartsch, Siv Fokstuen, Christoph Gräni, Viktor Martos, Argelia Medeiros Domingo, Antonio Osculati, Claudine Rieubland, Sara Sabatasso, Ardan M Saguner, Christian Schyma, Joelle Tschui, Daniel Wyler, Zahurul A Bhuiyan, Florence Fellmann, Katarzyna Michaud
Sudden cardiac death (SCD) is by definition unexpected and cardiac in nature. The investigation is almost invariably performed by a forensic pathologist. Under these circumstances the role of the forensic pathologist is twofold: (1.) to determine rapidly and efficiently the cause and manner of death and (2.) to initiate a multidisciplinary process in order to prevent further deaths in existing family members. If the death is determined to be due to "natural" causes the district attorney in charge often refuses further examinations...
2015: Swiss Medical Weekly
G J M Kummeling, A F Baas, M Harakalova, J J van der Smagt, F W Asselbergs
Genetics plays an important role in the pathophysiology of cardiovascular diseases, and is increasingly being integrated into clinical practice. Since 2008, both capacity and cost-efficiency of mutation screening of DNA have been increased magnificently due to the technological advancement obtained by next-generation sequencing. Hence, the discovery rate of genetic defects in cardiovascular genetics has grown rapidly and the financial threshold for gene diagnostics has been lowered, making large-scale DNA sequencing broadly accessible...
July 2015: Netherlands Heart Journal
Agnes J Verkerk, Alexa M Vermeer, Ellen M Smets, Lukas R Dekker, Arthur A Wilde, Irene M Van Langen, Imke Christiaans, Pythia T Nieuwkerk
BACKGROUND: Prophylactic implantable cardioverter defibrillator (ICD) therapy prevents sudden cardiac death (SCD) among young adults with cardiogenetic conditions, but might reduce quality of life (QoL) due to potential device complications, ongoing medical appointments, and lifestyle restrictions. We investigated QoL in the first year after ICD implantation for the primary prevention of SCD and compared QoL scores with population norms. METHODS: Consecutive patients with cardiogenetic conditions (aged 18-50 years) referred to the Academic Medical Center in Amsterdam to receive ICD therapy for the primary prevention of SCD between 2007 and 2009 were eligible...
July 2015: Pacing and Clinical Electrophysiology: PACE
Christian van der Werf, Anneke Hendrix, Erwin Birnie, Michiel L Bots, Aryan Vink, Abdennasser Bardai, Marieke T Blom, Jan Bosch, Wendy Bruins, C Kees Das, Rudolph W Koster, Tatjana Naujocks, Balthasar Schaap, Hanno L Tan, Ronald de Vos, Philip de Vries, Frits Woonink, Pieter A Doevendans, Henk C van Weert, Arthur A M Wilde, Arend Mosterd, Irene M van Langen
AIMS: Inherited cardiac diseases play an important role in sudden death (SD) in the young. Autopsy and cardiogenetic evaluation of relatives of young SD victims identifies relatives at risk. We studied the usual care after SD in the young aimed at identifying inherited cardiac disease, and assessed the efficacy of two interventions to improve this usual care. METHODS AND RESULTS: We conducted a community-based intervention study to increase autopsy rates of young SD victims aged 1-44 years and referral of their relatives to cardiogenetic clinics...
April 2016: Europace: European Pacing, Arrhythmias, and Cardiac Electrophysiology
Ellen Otten, Erwin Birnie, Adelita V Ranchor, J Peter van Tintelen, Irene M van Langen
The introduction of next-generation sequencing in everyday clinical genetics practise is increasing the number of genetic disorders that can be confirmed at DNA-level, and consequently increases the possibilities for cascade screening. This leads to a greater need for genetic counselling, whereas the number of professionals available to provide this is limited. We therefore piloted group genetic counselling for symptomatic cardiomyopathy patients at regional hospitals, to assess whether this could be an acceptable alternative to individual counselling...
November 2015: European Journal of Human Genetics: EJHG
Nadia Hidayatallah, Louise B Silverstein, Marina Stolerman, Thomas McDonald, Christine A Walsh, Esma Paljevic, Lilian L Cohen, Robert W Marion, David Wasserman, Sarah Hreyo, Siobhan M Dolan
AIM: Genetic testing now makes it possible to identify specific mutations that may lead to life-threatening cardiac arrhythmias. This article presents data from a qualitative research study that explored the subjective experiences of individuals and families with cardiogenetic conditions. We focus on describing patients' experiences of psychological stresses associated with having a cardiogenetic condition, illustrating the importance of integrating psychological and medical care. This integration of care is particularly important as personalized genomic medicine continues to evolve and the implications of genetic testing have a profound effect on individuals and families...
September 1, 2014: Personalized Medicine
J B Saenen, E M Van Craenenbroeck, D Proost, F Marchau, L Van Laer, C J Vrints, B L Loeys
Sudden cardiac death (SCD) has an enormous impact on those who are left behind, evoking strong feelings of anxiety and incomprehension because such a dramatic event was not anticipated. Moreover, over the last decade a prominent genetic contribution to the pathogenesis of SCD has been unveiled. As many inherited cardiac diseases show an autosomal dominant pattern of inheritance, the risk of carrying the same inherited predisposition is a real concern for the relatives. In this article, we discuss the major causes of primary electrical disorders, cardiomyopathies and thoracic aortic dissection and address issues in genotype-phenotype correlation, personalized management and cardiogenetic counselling...
August 2015: Clinical Genetics
Louise Bordeaux Silverstein, Marina Stolerman, Nadia Hidayatallah, Thomas McDonald, Christine A Walsh, Esma Paljevic, Lilian L Cohen, Robert W Marion, David Wasserman, Siobhan M Dolan
In this article we describe a qualitative research study in which we explored individuals' subjective experiences of both genetic testing and cardiogenetic disorders. Using a grounded theory approach, we coded and analyzed interview and focus group transcripts from 50 participants. We found that just under half of the participants who received their diagnosis during the study reported difficulty understanding information about both the purpose of genetic testing and their cardiac disease. A high level of anxiety about genetic testing and cardiac symptoms exacerbated individuals' cognitive confusion...
October 2014: Qualitative Health Research
Christian van der Werf, Lotte Stiekema, Hanno L Tan, Nynke Hofman, Marielle Alders, Allard C van der Wal, Irene M van Langen, Arthur A M Wilde
BACKGROUND: Sudden unexplained death syndrome (SUDS) in young individuals often results from inherited cardiac disease. Accordingly, comprehensive examination in surviving first-degree relatives unmasks such disease in approximately 35% of the families. It is unknown whether individuals from diagnosis-negative families are at risk of developing manifest disease or cardiac events during follow-up. OBJECTIVE: This study aimed to study the prognosis of first-degree relatives of young SUDS victims, in whom the initial cardiologic and genetic examination did not lead to a diagnosis...
October 2014: Heart Rhythm: the Official Journal of the Heart Rhythm Society
Kathleen E Erskine, Eleanor Griffith, Nicole Degroat, Marina Stolerman, Louise B Silverstein, Nadia Hidayatallah, David Wasserman, Esma Paljevic, Lilian Cohen, Christine A Walsh, Thomas McDonald, Robert W Marion, Siobhan M Dolan
In the genomic age, the challenges presented by various inherited conditions present a compelling argument for an interdisciplinary model of care. Cardiac arrhythmias with a genetic basis, such as long QT syndrome, require clinicians with expertise in many specialties to address the complex genetic, psychological, ethical and medical issues involved in treatment. The Montefiore-Einstein Center for CardioGenetics has been established to provide personalized, interdisciplinary care for families with a history of sudden cardiac death or an acute cardiac event...
January 1, 2013: Personalized Medicine
Christian van der Werf, Astrid T Onderwater, Irene M van Langen, Ellen M A Smets
Relatives of young sudden cardiac death (SCD) victims are at increased risk of carrying a potentially fatal inherited cardiac disease. Hence, it is recommended to perform an autopsy on the victim and to refer his or her relatives to a cardiogenetics clinic for a full evaluation to identify those at risk and allow preventive measures to be taken. However, at present, the number of families attending a cardiogenetics clinic after the SCD of a young relative is low in the Netherlands. We performed a qualitative study and report on the experiences and attitudes of first-degree relatives who attended a cardiogenetics clinic for evaluation...
February 2014: European Journal of Human Genetics: EJHG
Michael Papadakis, Hariharan Raju, Elijah R Behr, Sofia V De Noronha, Nicholas Spath, Alexandros Kouloubinis, Mary N Sheppard, Sanjay Sharma
BACKGROUND: The sudden death of young individuals is commonly attributed to inherited cardiac disorders, and familial evaluation is advocated. The identification of pathognomonic histopathologic findings, or the absence of cardiac pathology (sudden arrhythmic death syndrome [SADS]) at postmortem, directs familial evaluation targeting structural disorders or primary arrhythmogenic syndromes, respectively. In a proportion of autopsies, structural abnormalities of uncertain significance are reported...
June 2013: Circulation. Arrhythmia and Electrophysiology
Jan Dh Jongbloed, Anna Pósafalvi, Wilhelmina S Kerstjens-Frederikse, Richard J Sinke, J Peter van Tintelen
IMPORTANCE OF THE FIELD: For patients with congenital and inherited heart disorders, causative mutations are often not identified owing to limitations of current screening techniques. Identifying the mutation is of major importance for genetic counseling of patients and families, facilitating the diagnosis in people at risk and directing clinical management. Next-generation sequencing (NGS) provides unprecedented opportunities to maximize mutation yields and improve clinical management, genetic counseling and monitoring of patients...
January 2011: Expert Opinion on Medical Diagnostics
Britt-Maria Beckmann, Stefan Kääb
Genetic testing already has a substantial impact in identifying hereditary arrhythmia syndromes after sudden death in young patients. This report provides information on current developments, available options and reasonable approaches in the clinical setting. In addition the limitations of genetic testing are discussed. Genetic testing is only useful for patients in the context of clinical findings interpreted by an experienced cardiogenetics team.
September 2012: Herzschrittmachertherapie & Elektrophysiologie
Nancy Nehme, Rajae El Malti, Nathalie Roux-Buisson, Jean-Raymond Caignault, Patrice Bouvagnet
Carvajal syndrome is a rare syndrome with woolly hair, palmoplantar keratosis and dilated cardiomyopathy. The inheritance of the mutation is autosomal recessive. As a causal gene, the desmoplakin gene (DSP) has so far been identified; it encodes an essential component of desmosomes, a cell-cell structure aimed at keeping cells attached to each other in tissues in which cells are often exposed to strong shear forces. Recently, familial cases of an autosomal dominant Carvajal syndrome were documented with a new feature: hypo/oligodontia...
May 2012: Cell and Tissue Research
Pieter G Postema, Imke Christiaans, Marielle Alders, Nynke Hofman, Arthur A M Wilde
We describe 3 patients from a region in the centre of the Netherlands with several relatives who died prematurely from sudden cardiac arrest. These premature deaths appeared to be caused by a unique familial sudden death syndrome. These patients and their relatives did not present any distinguishable signs, symptoms or abnormalities on further examinations apart from premature cardiac arrest occurring in about 50% of the affected family members before the age of 60 years. Genetic analysis appeared to be the only means to identify family members at risk, carrying lethal changes in their DNA that presumably involve the DPP6-gene...
2011: Nederlands Tijdschrift Voor Geneeskunde
J Breckpot, B Thienpont, Y Arens, L C Tranchevent, J R Vermeesch, Y Moreau, M Gewillig, K Devriendt
Array comparative genomic hybridization (aCGH) has led to an increased detection of causal chromosomal imbalances in individuals with congenital heart defects (CHD). The introduction of aCGH as a diagnostic tool in a clinical cardiogenetic setting entails numerous challenges. Based on our own experience as well as those of others described in the literature, we outline the state of the art and attempt to answer a number of outstanding questions such as the detection frequency of causal imbalances in different patient populations, the added value of higher-resolution arrays, and the existence of predictive factors in syndromic cases...
2011: Cytogenetic and Genome Research
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"