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Cardiac genetic testing

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https://www.readbyqxmd.com/read/28630369/alpk3-gene-mutation-in-a-patient-with-congenital-cardiomyopathy-and-dysmorphic-features
#1
Ahmet Okay Cağlayan, Rabia Gonul Sezer, Hande Kaymakcalan, Ege Ulgen, Taner Yavuz, Jacob F Baranoski, Abdulkadir Bozaykut, Akdes Serin Harmanci, Yalim Yalcin, Mark W Youngblood, Katsuhito Yasuno, Kaya Bilguvar, Murat Gunel
Primary cardiomyopathy is one of the most common inherited cardiac diseases and harbors significant phenotypic and genetic heterogeneity. Because of this, genetic testing has become standard in treatment of this disease group. Indeed, in recent years, next-generation DNA sequencing has found broad applications in medicine, both as a routine diagnostic tool for genetic disorders and also as a high-throughput discovery tool for identifying novel disease causing genes. We describe a male infant with primary dilated cardiomyopathy that was diagnosed using intrauterine echocardiography, and found to progress to hypertrophic cardiomyopathy after birth...
June 19, 2017: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/28623545/analysis-of-genotypes-and-phenotypes-in-chinese-children-with-tuberous-sclerosis-complex
#2
Dayong Bai, Junyang Zhao, Li Li, Jun Gao, Xu Wang
Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome with serious clinical presentations, an autosomal dominant genetic disorder involving multiple organs and systems. We retrospectively investigated the clinical manifestations and genotypes of 20 Chinese children with TSC to enable informed diagnostic and surveillance recommendations in China. A retrospective analysis of clinical manifestations in 20 children (7.00±5.30 years old) with TSC was conducted. A genetic testing of the genes TSC1 and TSC2 was performed in 14 children...
June 14, 2017: Science China. Life Sciences
https://www.readbyqxmd.com/read/28616646/molecular-genetic-diagnostics-for-ventricular-arrhythmias-and-sudden-cardiac-death-syndromes
#3
B Stallmeyer, S Dittmann, G Seebohm, J Müller, E Schulze-Bahr
Inherited forms of ventricular arrhythmias are rare diseases, but a major cause for severe cardiac events, sudden unexplained death syndromes, and death in young adults, infants, and children. Each disorder is genetically heterogeneous (5-20 genes per disease) and molecular testing may include both core genes and less common disease genes as well. Owing to the rapid development and feasibility of sequencing technologies enabling a parallel analysis of several hundred genes up to a whole exome, disease mutations can be identified very efficiently, but have to be seen in the complexity and natural variance of the human genome...
June 14, 2017: Herz
https://www.readbyqxmd.com/read/28614966/persistently-elevated-nuchal-translucency-and-the-fetal-heart
#4
Trisha V Vigneswaran, Tessa Homfray, Lindsey D Allan, John M Simpson, Vita Zidere
We describe the outcome of fifteen cases with an elevated nuchal translucency (NT) which persisted into the second trimester as nuchal edema (NE) > 6 mm whom underwent fetal echocardiography. Cases were identified following retrospective review of cardiac and genetic findings with NE. Minor congenital heart disease was identified in 3/15 by the second trimester. Agenesis of the ductus venosus was evident in four. Pulmonary valve stenosis was diagnosed in one fetus at the 20-week scan and hypertrophic cardiomyopathy in one...
June 14, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28611030/association-between-mutation-size-and-cardiac-involvement-in-myotonic-dystrophy-type-1-an-analysis-of-the-dm1-heart-registry
#5
Caroline Chong-Nguyen, Karim Wahbi, Vincent Algalarrondo, Henri Marc Bécane, Hélène Radvanyi-Hoffman, Pauline Arnaud, Denis Furling, Arnaud Lazarus, Guillaume Bassez, Anthony Béhin, Abdallah Fayssoil, Pascal Laforêt, Tanya Stojkovic, Bruno Eymard, Denis Duboc
BACKGROUND: In myotonic dystrophy type 1, the association between mutation size (CTG expansion) and the severity of cardiac involvement is controversial. METHODS AND RESULTS: We selected 855 patients with myotonic dystrophy type 1 (women, 51%; median age, 37 years), with genetic testing performed at the moment of their initial cardiac evaluation, out of 1014 patients included in the Myotonic Dystrophy Type 1-Heart Registry between January 2000 and December 2015...
June 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28600387/genetic-testing-in-the-evaluation-of-unexplained-cardiac-arrest-from-the-casper-cardiac-arrest-survivors-with-preserved-ejection-fraction-registry
#6
Greg Mellor, Zachary W M Laksman, Rafik Tadros, Jason D Roberts, Brenda Gerull, Christopher S Simpson, George J Klein, Jean Champagne, Mario Talajic, Martin Gardner, Christian Steinberg, Laura Arbour, David H Birnie, Paul Angaran, Richard Leather, Shubhayan Sanatani, Vijay S Chauhan, Colette Seifer, Jeffrey S Healey, Andrew D Krahn
BACKGROUND: Unexplained cardiac arrest may be because of an inherited arrhythmia syndrome. The role of genetic testing in cardiac arrest survivors without a definite clinical phenotype is unclear. METHODS AND RESULTS: The CASPER (Cardiac Arrest Survivors with Preserved Ejection Fraction Registry) is a large registry of cardiac arrest survivors where initial assessment reveals normal coronary arteries, left ventricular function, and resting ECG. Of 375 cardiac arrest survivors in CASPER from 2006 to 2015, 174 underwent genetic testing...
June 2017: Circulation. Cardiovascular Genetics
https://www.readbyqxmd.com/read/28596174/induced-pluripotent-stem-cells-10-years-later-for-cardiac-applications
#7
REVIEW
Yoshinori Yoshida, Shinya Yamanaka
Induced pluripotent stem cells (iPSCs) are reprogrammed cells that have features similar to embryonic stem cells, such as the capacity of self-renewal and differentiation into many types of cells, including cardiac myocytes. Although initially the reprogramming efficiency was low, several improvements in reprogramming methods have achieved robust and efficient generation of iPSCs without genomic insertion of transgenes. iPSCs display clonal variations in epigenetic and genomic profiles and cellular behavior in differentiation...
June 9, 2017: Circulation Research
https://www.readbyqxmd.com/read/28594412/attitudes-knowledge-and-consequences-of-uncertain-genetic-findings-in-hypertrophic-cardiomyopathy
#8
Charlotte Burns, Laura Yeates, Catherine Spinks, Christopher Semsarian, Jodie Ingles
With the surge of next-generation sequencing (NGS) technologies making almost all genetic tests more affordable and available, cardiac genetic testing now routinely encompasses a large number of genes within a panel setting. The additional sensitivity of this practice is limited and has the potential to inflict a spectrum of uncertainty. We sought to explore attitudes, preferences, recall and psychological consequences of informative and uninformative genetic results amongst probands diagnosed with hypertrophic cardiomyopathy (HCM)...
June 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/28589536/distinguishing-pathogenic-mutations-from-background-genetic-noise-in-cardiology-the-use-of-large-genome-databases-for-genetic-interpretation
#9
REVIEW
Jonas Ghouse, Morten W Skov, Robert S Bigseth, Gustav Ahlberg, Jørgen K Kanters, Morten S Olesen
Advances in clinical genetic testing has led to increased insight into the human genome, including how challenging it is to interpret rare genetic variation. In some cases, the ability to detect genetic mutations exceeds the ability to understand their clinical impact, limiting the advantage of these technologies. Obstacles in genomic medicine are many and include: understanding the level of certainty/uncertainty behind pathogenicity determination, the numerous different variant interpretation-guidelines used by clinical laboratories, delivering the certain or uncertain result to the patient, helping patients evaluate medical decisions in light of uncertainty regarding the consequence of the findings...
June 6, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28566242/clinical-and-genetic-diagnosis-of-nonischemic-sudden-cardiac-death
#10
Juan Jiménez-Jáimez, Vicente Alcalde Martínez, Miriam Jiménez Fernández, Francisco Bermúdez Jiménez, María Del Mar Rodríguez Vázquez Del Rey, Francesca Perin, José Manuel Oyonarte Ramírez, Silvia López Fernández, Inmaculada de la Torre, Rocío García Orta, Mercedes González Molina, Elisa María Cabrerizo, Beatriz Álvarez Abril, Miguel Álvarez, Rosa Macías Ruiz, Concepción Correa, Luis Tercedor
INTRODUCTION AND OBJECTIVES: Nonischemic sudden cardiac death (SCD) is predominantly caused by cardiomyopathies and channelopathies. There are many diagnostic tests, including some complex techniques. Our aim was to analyze the diagnostic yield of a systematic diagnostic protocol in a specialized unit. METHODS: The study included 56 families with at least 1 index case of SCD (resuscitated or not). Survivors were studied with electrocardiogram, advanced cardiac imaging, exercise testing, familial study, genetic testing and, in some cases, pharmacological testing...
May 26, 2017: Revista Española de Cardiología
https://www.readbyqxmd.com/read/28552050/readthrough-of-scn5a-nonsense-mutations-r1623x-and-s1812x-question-gene-therapy-in-brugada-syndrome
#11
Siyong Teng, Jian Huang, Zhan Gao, Jie Hao, Yuejin Yang, Shu Zhang, Jielin Pu, Rutai Hui, Yongjian Wu, Zheng Fan
PURPOSE: Readthrough of nonsense mutation are used as gene-specific treatment in some genetic disease. Response to readthrough treatment is determined by readthrough efficiency of various nonsense mutations. In this manuscript, we aimed to explore the harmful effect of nonsense mutation suppressions. METHODS: HEK293 cells were transfected with two SCN5A (encode cardiac Na+ channel) nonsense mutations, p.R1623X and p.S1812X. We applied two readthrough-enhancing methods (either aminoglycosides or by a siRNA targeting eukaryotic release factor eRF3a (a GTPase that binds eRF1)) to suppress these SCN5A nonsense mutations...
May 28, 2017: Current Gene Therapy
https://www.readbyqxmd.com/read/28545623/genetic-determinants-of-hereditary-bradyarrhythmias-a-contemporary-review-of-a-diverse-group-of-disorders
#12
REVIEW
Saman Rezazadeh, Henry J Duff
Bradyarrhythmia is a common clinical presentation. Although the majority of cases are acquired, genetic screening of families with bradyarrhythmia has led to the discovery of a growing number of causative hereditary mutations. These mutations can interfere with any of the steps required for the occurrence of each cardiac cycle, including generation of an action potential in the sinoatrial node, successful exit of the action potential from the node, propagation of the action potential throughout the atria until the depolarization waves reach the atrioventricular node, and finally transmission of the action potential to the ventricles through the His-Purkinje system...
June 2017: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/28542097/genome-wide-association-and-pathway-analysis-of-left-ventricular-function-after-anthracycline-exposure-in-adults
#13
Quinn S Wells, Olivia J Veatch, Joshua P Fessel, Aron Y Joon, Rebecca T Levinson, Jonathan D Mosley, Elizabeth P Held, Chase S Lindsay, Christian M Shaffer, Peter E Weeke, Andrew M Glazer, Kevin R Bersell, Sara L Van Driest, Jason H Karnes, Marcia A Blair, Lore W Lagrone, Yan R Su, Erica A Bowton, Ziding Feng, Bonnie Ky, Daniel J Lenihan, Michael J Fisch, Joshua C Denny, Dan M Roden
BACKGROUND: Anthracyclines are important chemotherapeutic agents, but their use is limited by cardiotoxicity. Candidate gene and genome-wide studies have identified putative risk loci for overt cardiotoxicity and heart failure, but there has been no comprehensive assessment of genomic variation influencing the intermediate phenotype of anthracycline-related changes in left ventricular (LV) function. The purpose of this study was to identify genetic factors influencing changes in LV function after anthracycline chemotherapy...
July 2017: Pharmacogenetics and Genomics
https://www.readbyqxmd.com/read/28534967/whole%C3%A2-exome-sequencing-identifies-a-novel-mutation-r367g-in-scn5a-to-be-associated-with-familial-cardiac-conduction-disease
#14
Rong Yu, Xue-Feng Fan, Chan Chen, Zheng-Hua Liu
Cardiac conduction disease is a primary cause of sudden cardiac death. Sodium voltage‑gated channel‑α subunit 5 (SCN5A) mutations have been reported to underlie a variety of inherited arrhythmias. Numerous disease‑causing mutations of SCN5A have been identified in patients with ≥10 different conditions, including type 3 long‑QT syndrome and Brugada syndrome. The present study investigated a family with a history of arrhythmia, with the proband having a history of arrhythmia and syncope. Whole‑exome sequencing was applied in order to detect the disease‑causing mutation in this family, and Sanger sequencing was used to confirm the co‑segregation among the family members...
July 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28532586/the-role-of-genetics-in-primary-ventricular-fibrillation-inherited-channelopathies-and-cardiomyopathies
#15
Lia Crotti, Maria-Christina Kotta
Sudden cardiac death (SCD) has a strong familial component; however, our understanding of its genetic basis varies significantly according to the underlying causes. When coronary artery disease is involved, the predisposing genetic background is complex and despite some interesting findings it remains largely unknown. Quite different is the case of monogenic structural and non-structural heart diseases, in which a number of disease-causing genes have been established and are being used in clinical practice...
June 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28532585/genetics-of-sudden-cardiac-death-an-epidemiologic-perspective
#16
Stefan Kääb
Despite a positive family history of SCD being associated with increased risk for SCD in the offspring, the genetic contribution to SCD in general and in proportion to the population at risk is considered to be small. The majority of SCD is rated a common disease with multi allelic susceptibility markers of minor effect size each. A smaller proportion of obvious familial forms of early onset SCD, or SCD in the young on the other hand is clearly linked to genetics. Here frequently, rare genetic variants with strong effects carry the major risk for SCD...
June 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28527814/desmoplakin-missense-and-non-missense-mutations-in-arrhythmogenic-right-ventricular-cardiomyopathy-genotype-phenotype-correlation
#17
Silvia Castelletti, Annina S Vischer, Petros Syrris, Lia Crotti, Carla Spazzolini, Alice Ghidoni, Gianfranco Parati, Sharon Jenkins, Maria-Christina Kotta, William J McKenna, Peter J Schwartz, Antonis Pantazis
BACKGROUND: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is traditionally considered as primarily affecting the right ventricle. Mutations in genes encoding desmosomal proteins account for 40-60% of cases. Genotype-phenotype correlations are scant and mostly non gene-specific. Accordingly, we assessed the genotype-phenotype correlation for desmoplakin (DSP) missense and non-missense mutations causing ARVC. METHODS AND RESULTS: We analyzed 27 ARVC patients carrying a missense or a non-missense DSP mutation, with complete clinical assessment...
May 10, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28512290/evolution-of-drug-resistant-acinetobacter-baumannii-after-dcd-renal-transplantation
#18
Hong Jiang, Luxi Cao, Lihui Qu, Tingting Qu, Guangjun Liu, Rending Wang, Bingjue Li, Yuchen Wang, Chaoqun Ying, Miao Chen, Yingying Lu, Shi Feng, Yonghong Xiao, Junwen Wang, Jianyong Wu, Jianghua Chen
Infection after renal transplantation remains a major cause of morbidity and death, especially infection from the extensively drug-resistant bacteria, A. baumannii. A total of fourteen A. baumannii isolates were isolated from the donors' preserved fluid from DCD (donation after cardiac death) renal transplantation and four isolates in the recipients' draining liquid at the Kidney Disease Center, The First Affiliated Hospital, College of Medicine, Zhejiang University, from March 2013 to November 2014. An outbreak of A...
May 16, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28496094/apical-hypertrophic-cardiomyopathy-case-report-and-literature-review
#19
Tanya Doctorian, William J Mosley, Bao Do
BACKGROUND Apical hypertrophic cardiomyopathy (ApHCM) is a relatively rare form of hypertrophic cardiomyopathy that predominantly affects the apex of the left ventricle and typically has a nonobstructive physiology. Its variable presentation and clinical course render ApHCM a commonly delayed or missed diagnosis. CASE REPORT A 53-year-old Caucasian woman presented with chronic progressive chest pain. She was initially started on treatment for acute coronary syndrome. Diagnosis of ApHCM was initially missed on echocardiography, but made on subsequent cardiac catheterization and cardiac MRI...
May 12, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28494620/genetic-testing-improves-identification-of-transthyretin-amyloid-attr-subtype-in-cardiac-amyloidosis
#20
Emily E Brown, Yi Zhen Joan Lee, Marc K Halushka, Charles Steenbergen, Nicole M Johnson, Johana Almansa, Ryan J Tedford, Oscar Cingolani, Stuart D Russell, Kavita Sharma, Daniel P Judge
Amyloidosis is a group of conditions characterized by the accumulation of amyloid deposits in various tissues. Among these disorders, ATTR amyloidosis occurs either with or without a TTR pathogenic variant. Treatment for amyloidosis depends on the subtype, which is often identified through a tissue biopsy followed by liquid chromatography tandem mass spectrometry (LC-MS/MS). Genetic testing may be done to confirm these results for patients with ATTR amyloidosis; however, the necessity of genetic testing after LC-MS/MS has not been evaluated...
May 11, 2017: Amyloid: the International Journal of Experimental and Clinical Investigation
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