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Vasilica Plaiasu
During the last years, Down syndrome has been the focus of special attention. Down syndrome is a genetic disorder characterized by distinct physical features and some degree of cognitive disability. Patients with Down syndrome also present many other congenital anomalies. The mapping for phenotypes to specific regions of chromosome 21 permits to identify which genes (or small regions) contribute to the phenotypic features of Down syndrome and thus, to understand its pathogenesis. Mainly there are three cytogenetic forms of Down syndrome: free trisomy 21, mosaic trisomy 21 and robertsonian translocation trisomy 21...
September 2017: Mædica
Ahmed A Y Ragab, Charlotte A Houck, Lisette J M E van der Does, Eva A H Lanters, Agnes J Q M Muskens, Natasja M S de Groot
Supraventricular tachyarrhythmia (SVT), especially atrial fibrillation (AF), has been observed in patients with inherited cardiac arrhythmia (ICA). Data on the time course of SVT and the occurrence of SVT other than AF is limited. In this study, we examined the prevalence, co-existence, and the time course of different types of SVT in patients with various ICAs. In this retrospective study, we selected 393 patients (median 49 years, range 17 to 87, 57% male) from a cohort of patients visiting the outpatient clinic for cardiogenetic screening of ICA...
December 1, 2017: American Journal of Cardiology
Florence Fellmann, Xavier Jeanrenaud, Nicole Sekarski, Katarzyna Michaud, Deborah Hersch, Heidi Fodstad, Zahurul A Bhuiyan, Jürg Schläpfer
Multidisciplinary cardiogenetic consulting offers a global clinical approach to patients suffering from channelopathies or hereditary cardiomyopathies. Mutation is discovered in around 50 % of the cases. Several experts are working together to bring probands and their families useful and necessary informations to help them understanding causes, consequences and support of their disease. This approach is developped in close collaboration with the treating physician.
May 24, 2017: Revue Médicale Suisse
Ahmed A Y Ragab, Charlotte A Houck, Lisette J M E van der Does, Eva A H Lanters, Danielle E Burghouwt, Agnes J Q M Muskens, Natasja M S de Groot
Brugada syndrome (BrS) is an autosomal dominant channelopathy which is responsible for a large number of sudden cardiac deaths in young subjects without structural abnormalities. The most challenging step in management of patients with BrS is identifying who is at risk for developing malignant ventricular tachyarrhythmia (VTA). In patients with BrS, conduction delay in the right ventricular outflow tract (RVOT) causes a prominent R wave in lead aVR. This electrocardiographic parameter can be useful to detect these high-risk patients...
August 1, 2017: American Journal of Cardiology
Alexa M C Vermeer, Anneloes Janssen, Peter C Boorsma, Marcel M A M Mannens, Arthur A M Wilde, Imke Christiaans
OBJECTIVES: Hypertrophic cardiomyopathy (HCM) is an inherited cardiac disorder that affects over one in 500 persons worldwide. The autosomal dominant transmission of HCM implies that many relatives are at risk for HCM associated morbidity and mortality, therefore genetic testing and counselling is of great importance. However, in only 50-60% of the patients a mutation is found, which hampers predictive genetic testing in relatives. In HCM patients in whom the causal mutation has not been identified (yet), phenocopies of HCM - i...
May 5, 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
Arthur A M Wilde, Ahmad Amin
The publisher regrets that this article has been temporarily removed. A replacement will appear as soon as possible in which the reason for the removal of the article will be specified, or the article will be reinstated. The full Elsevier Policy on Article Withdrawal can be found at
March 18, 2017: International Journal of Cardiology
Alexa M Vermeer, Elisabeth M Lodder, Imke Christiaans, Irene M van Langen, Arthur A Wilde, Connie R Bezzina, Rafik Tadros
We present a family from a founder population referred for cardiogenetic evaluation for atrioventricular block in 3 siblings. Genetic testing, including whole-exome sequencing, did not identify a disease-causing mutation. After reconsidering the differential diagnosis, a nongenetic cause was identified. This case highlights the importance of a thorough clinical evaluation even when a genetic cause is seemingly obvious.
April 2017: Canadian Journal of Cardiology
Karin Nieuwhof, Erwin Birnie, Maarten P van den Berg, Rudolf A de Boer, Paul L van Haelst, J Peter van Tintelen, Irene M van Langen
Increasing numbers of patient relatives at risk of developing dilated or hypertrophic cardiomyopathy (DCM/HCM) are being identified and followed up by cardiologists according to the ACC/ESC guidelines. However, given limited healthcare resources, good-quality low-cost alternative approaches are needed. Therefore, we have compared conventional follow-up by a cardiologist with that provided at a cardiogenetic clinic (CGC) led by a genetic counsellor. Phenotype-negative first-degree relatives at risk for DCM/HCM were randomly assigned to see either a cardiologist or to attend a CGC...
February 2017: European Journal of Human Genetics: EJHG
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
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