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hypertrophic cardiomyopathy, dilated cardiomyopathy, genetic testing, cardiovascular genetics

Ozge Ceyhan-Birsoy, Maya M Miatkowski, Elizabeth Hynes, Birgit H Funke, Heather Mason-Suares
RASopathies include a group of syndromes caused by pathogenic germline variants in RAS-MAPK pathway genes and typically present with facial dysmorphology, cardiovascular disease, and musculoskeletal anomalies. Recently, variants in RASopathy-associated genes have been reported in individuals with apparently non-syndromic cardiomyopathy, suggesting that subtle features may be overlooked. To determine the utility and burden of adding RASopathy-associated genes to cardiomyopathy panels, we tested 11 RASopathy-associated genes by next generation sequencing (NGS), including NGS-based copy number variant assessment, in 1,111 individuals referred for genetic testing for hypertrophic cardiomyopathy (HCM) or dilated cardiomyopathy (DCM)...
April 25, 2018: Human Mutation
Jane E Wilcox, Ray E Hershberger
PURPOSE OF REVIEW: To describe recent advancements in cardiovascular genetics made possible by leveraging next-generation sequencing (NGS), and to provide a framework for practical applications of genetic testing for hypertrophic (HCM), dilated (DCM), and arrhythmogenic right ventricular cardiomyopathies (ARVC). RECENT FINDINGS: The availability of NGS has made possible extensive reference databases. These, combined with recent initiatives to compile previously siloed commercial and research cardiomyopathy data sets, provide a more powerful and precise approach to cardiovascular genetic medicine...
March 19, 2018: Current Opinion in Cardiology
Alex C Y Chang, Helen M Blau
Cardiovascular diseases are the leading cause of death worldwide and the incidence increases with age. Genetic testing has taught us much about the pathogenic pathways that drive heritable cardiomyopathies. Here we discuss an unexpected link between shortened telomeres, a molecular marker of aging, and genetic cardiomyopathy. Positioned at the ends of chromosomes, telomeres are DNA repeats which serve as protective caps that shorten with each cell division in proliferative tissues. Cardiomyocytes are an anomaly, as they are largely non-proliferative post-birth and retain relatively stable telomere lengths throughout life in healthy individuals...
March 2018: Differentiation; Research in Biological Diversity
Allison L Cirino, Stephanie Harris, Neal K Lakdawala, Michelle Michels, Iacopo Olivotto, Sharlene M Day, Dominic J Abrams, Philippe Charron, Colleen Caleshu, Christopher Semsarian, Jodie Ingles, Harry Rakowski, Daniel P Judge, Carolyn Y Ho
Importance: Genetic testing is a valuable tool for managing inherited cardiovascular disease in patients and families, including hypertrophic, dilated, and arrhythmogenic cardiomyopathies and inherited arrhythmias. By identifying the molecular etiology of disease, genetic testing can improve diagnostic accuracy and refine family management. However, unique features associated with genetic testing affect the interpretation and application of results and differentiate it from traditional laboratory-based diagnostics...
October 1, 2017: JAMA Cardiology
Allyson E Somers, Stephanie M Ware, Kathleen Collins, John L Jefferies, Hua He, Erin M Miller
Cardiovascular genetic counseling has emerged as a specialty critical to the care of patients with heritable cardiovascular disease. Current strategies to meet the growing demand are not clear. We sought to characterize practice patterns of cardiac genetic counseling by developing a novel survey distributed to the National Society of Genetic Counselors (NSGC) Listserv to assess clinical practice, cardiovascular training, and education. Descriptive statistics were used to summarize clinical practice; Fisher's exact test and the Cochran-Armitage trend test were used to compare the practice of cardiovascular genetic counselors (CVGCs) to those who did not identify cardiology as a specialty (non-CVGCs)...
December 2014: Journal of Genetic Counseling
Kimberly G Harmon, Jonathan A Drezner, Joseph J Maleszewski, Martha Lopez-Anderson, David Owens, Jordan M Prutkin, Irfan M Asif, David Klossner, Michael J Ackerman
BACKGROUND: The pathogenesis of sudden cardiac death in college athletes has not been defined by systematic case identification. METHODS AND RESULTS: A total of 45 cases of sudden cardiac death were identified in National Collegiate Athletic Association (NCAA) athletes from 2004 to 2008 based on an internal reporting system and review of media reports. Autopsy reports were reviewed and adjudicated by a multidisciplinary panel. Cause of death could be reasonably determined in 36 cases; 3 athletes had no autopsy, 5 autopsy reports could not be obtained, and 1 autopsy had insufficient information to determine cause of death...
April 2014: Circulation. Arrhythmia and Electrophysiology
Matthew S Lebo, Samantha M Baxter
With the increasing use of next-generation sequencing applications, there has been an increase in identification of genetic causes of cardiac disease. This technology has also enabled the transition of these genes into the clinical setting and the rapid growth of large gene tests for the diagnosis of heart disorders. The ability to combine tests to include similar, but distinct, diseases has shown that many genes can be responsible for a wide variety of both syndromic and nonsyndromic disorders. This article discusses the current state of molecular genetic diagnosis for cardiac disorders, focusing on diseases with mendelian inheritance...
March 2014: Clinics in Laboratory Medicine
J Peter Van Tintelen, Petronella G Pieper, Karin Y Van Spaendonck-Zwarts, Maarten P Van Den Berg
Although familial forms of cardiomyopathy such as hypertrophic or dilated cardiomyopathy have been recognized for decades, it is only recently that much of the genetic basis of these inherited cardiomyopathies has been elucidated. This has provided important insights into the pathophysiological mechanisms underlying the disease phenotype. This increased knowledge and the availability of genetic testing has resulted in increasing numbers of mutation carriers who are being monitored, including many who are now of child-bearing age...
March 15, 2014: Cardiovascular Research
Deborah E Meyers, Haseeb Ilias Basha, Mary Kay Koenig
Mitochondrial disease is a heterogeneous group of multisystemic diseases that develop consequent to mutations in nuclear or mitochondrial DNA. The prevalence of inherited mitochondrial disease has been estimated to be greater than 1 in 5,000 births; however, the diagnosis and treatment of this disease are not taught in most adult-cardiology curricula. Because mitochondrial diseases often occur as a syndrome with resultant multiorgan dysfunction, they might not immediately appear to be specific to the cardiovascular system...
2013: Texas Heart Institute Journal
Calum A MacRae
Clinical and molecular genetics are inextricably linked. In the last two decades genetic studies have revealed the causes of several forms of structural heart disease. Recent work is extending the insights from inherited arrhythmias and cardiomyopathies to other forms of heart disease. In this review we outline the current state of the art for the genetics of adult structural heart disease, in particular the cardiomyopathies, valvular heart disease and aortic disease. The general approaches are described with a focus on clinical relevance, while potential areas for imminent innovation in diagnosis and therapeutics are highlighted...
October 2013: Current Cardiology Reports
Elena Dolmatova, Saagar Mahida, Patrick T Ellinor, Steven A Lubitz
A wide range of inherited syndromes can result in ventricular arrhythmias and sudden cardiac death (SCD). The natural histories of inherited arrhythmia syndromes are highly variable and current risk stratification techniques are limited. Thus, the management of these conditions can be difficult and often involves a combination of risk assessment, lifestyle modification, cardiac interventions, counselling, and family screening. Recent advances in high throughput sequencing have enabled routine testing in patients with a high clinical index of suspicion for an inherited arrhythmia condition, and cascade screening in relatives of mutation carriers...
August 2013: Current Cardiology Reports
O V Blagova, A V Nedostup, V P Sedov, N V Gagarina, E A Kogan, V A Sulimov, Iu V Frolova, S L Dzemeshkevich, E V Zakliaz'minskaia, E A Mershina, V E Sinitsyn, A G Kupriianova, V A Zaĭdenov, A E Donnikov
Noncompaction myocardium (NCM) is a genetic heterogeneous primary cardiomyopathy which affects both children and adults and can be either isolated or combined with other congenital heart disorders. It has common pathogenesis of symptoms but is distinguished by pronounced clinical polymorphism. We have observed 25 adult patients (15 men, 10 women aged from 20 to 62 years, mean age 42.9+/-13.3 years) with NCM syndrome. Heart failure have been found in 96% of patients (functional class [FC] I in 7, II - in 6, III in 7, and IV - in 4 patients)...
2012: Kardiologiia
Jane Caldwell, Natalie Moreton, Naz Khan, Lauren Kerzin-Storrar, Kay Metcalfe, William Newman, Clifford J Garratt
OBJECTIVE: Following national guidance on management of sudden unexplained death (SUD) in the young, inherited cardiac conditions (ICC) clinics were established to identify and treat relatives thought to be at increased risk. Studies have examined diagnostic yield of these clinics but outcome of clinical management has not been reported. DESIGN: Observational outcome study of consecutively referred relatives of SUD victims. SETTING: Regional ICC clinic...
April 2012: Heart: Official Journal of the British Cardiac Society
Alon Barsheshet, Andrew Brenyo, Arthur J Moss, Ilan Goldenberg
Advances in genetic testing technology have led to a proliferation of new genetic tests and accelerated developments in the field of cardiovascular genetic medicine. These advances enhance presymptomatic diagnosis and can establish a definitive molecular diagnosis for symptomatic patients at risk for sudden cardiac death. Most importantly, genotype-phenotype correlations can add important information for predicting outcome and selecting treatment for patients with inherited arrhythmic disorders. This paper reviews the current data regarding genotype-phenotype correlations and the role of clinical genetic testing in diagnosis, prognosis, and management of inheritable disorders leading to sudden cardiac death...
October 2011: Current Cardiology Reports
Sébastien P J Krul, Jasper J van der Smagt, Maarten P van den Berg, Krystyna M Sollie, Petronella G Pieper, Karin Y van Spaendonck-Zwarts
Pregnancy exposes women with inherited cardiomyopathies to increased risk for heart failure and arrhythmias. In this paper, we review the clinical course and management of pregnant women with the following inherited cardiomyopathies: hypertrophic cardiomyopathy, dilated cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, left ventricular non-compaction cardiomyopathy, and restrictive cardiomyopathy. We also discuss peripartum cardiomyopathy. Pregnancy is generally well tolerated in asymptomatic patients with inherited cardiomyopathies...
June 2011: European Journal of Heart Failure
Colleen Caleshu, Sharlene Day, Heidi L Rehm, Samantha Baxter
No abstract text is available yet for this article.
October 2010: Heart: Official Journal of the British Cardiac Society
Jörg Lauschke, Bernhard Maisch
Intensive endurance training is able to cause a distinct pattern of functional and structural changes of the cardiovascular system. In an unknown proportion of athletes a so called "athlete's heart" develops. There is an overlap between this type of physiologic cardiac hypertrophy and mild forms of hypertrophic cardiomyopathy (HCM), the most common genetic disorder of the cardiovascular system with a prevalence of 0.2%. HCM is caused by mutations in 14 genes coding for sarcomere proteins. In the literature up to 50% of cases of sudden cardiac death (SCD) in younger sportsmen were connected to hypertrophic cardiomyopathy...
February 2009: Clinical Research in Cardiology: Official Journal of the German Cardiac Society
Jason Cowan, Ana Morales, Jimena Dagua, Ray E Hershberger
In this emerging era of cardiovascular genetic medicine, increasing responsibility will be placed on cardiovascular practitioners to be aware of the latest clinical genetic testing methods and the knowledge base needed to interpret genetic test results. Some cardiovascular specialists will develop the expertise within the field to order genetic testing and interpret results, while other practitioners will refer patients to centers of excellence in cardiovascular genetic medicine. A previous article in the Cardiovascular Genetic Medicine: Clinical Perspectives and Future Applications series(1) highlighted an increasing recognition of the cardiomyopathies (hypertrophic [HCM], dilated [DCM], arrhythmogenic right ventricular dysplasia [ARVD]) and channelopathies (long QT syndrome [LQTS] and others) as genetic diseases, and focused on the importance of a targeted family history as a critical part of patient evaluation...
March 2008: Congestive Heart Failure
Ana Morales, Jason Cowan, Jimena Dagua, Ray E Hershberger
We are pleased to provide a new section devoted to topics in cardiovascular genetic medicine. An emerging field, cardiovascular genetic medicine is devoted to the identification and understanding of cardiac conditions resulting from genetic mechanisms and to the development and validation of treatment algorithms and guidelines. Cardiovascular genetic medicine is rapidly enlarging, and we anticipate a broad range of comprehensive reviews. We will first focus on the most tractable diagnoses to apply the principles of cardiovascular genetic medicine: the cardiomyopathies such as dilated, hypertrophic, arrhythmogenic right ventricular dysplasia/cardiomyopathy and the channelopathies such as long QT syndrome and related disorders...
January 2008: Congestive Heart Failure
Houman Ashrafian, Hugh Watkins
The enduring subdivision of cardiomyopathies into hypertrophic (HCM), dilated (DCM), and restrictive (RCM) categories reflects the emphasis of traditional classifications on morphology. Rapid advances in the genetic interrogation of these disorders have redefined their taxonomy and revealed potential conflicts between the old and new classifications. Hypertrophic cardiomyopathy has been redefined as a disease of perturbed sarcomere function. Dilated cardiomyopathy is a disease that results from more varied perturbations, including, but not limited to, defects of the cytoskeleton...
March 27, 2007: Journal of the American College of Cardiology
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