Literature DB >> 34412507

Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement From the American Heart Association.

Andrew P Landstrom, Jeffrey J Kim, Bruce D Gelb, Benjamin M Helm, Prince J Kannankeril, Christopher Semsarian, Amy C Sturm, Martin Tristani-Firouzi, Stephanie M Ware.   

Abstract

Genetic diseases that affect the cardiovascular system are relatively common and include cardiac channelopathies, cardiomyopathies, aortopathies, hypercholesterolemias, and structural diseases of the heart and great vessels. The rapidly expanding availability of clinical genetic testing leverages decades of research into the genetic origins of these diseases, helping inform diagnosis, clinical management, and prognosis. Although a number of guidelines and statements detail best practices for cardiovascular genetic testing, there is a paucity of pediatric-focused statements addressing the unique challenges in testing in this vulnerable population. In this scientific statement, we seek to coalesce the existing literature around the use of genetic testing for cardiovascular disease in infants, children, and adolescents.

Entities:  

Keywords:  AHA Scientific Statements; cardiomyopathies; channelopathies; connective tissue diseases; counseling, genetic; predictive genetic testing

Mesh:

Year:  2021        PMID: 34412507      PMCID: PMC8546375          DOI: 10.1161/HCG.0000000000000086

Source DB:  PubMed          Journal:  Circ Genom Precis Med        ISSN: 2574-8300


  54 in total

Review 1.  How to perform and interpret provocative testing for the diagnosis of Brugada syndrome, long-QT syndrome, and catecholaminergic polymorphic ventricular tachycardia.

Authors:  Manoj N Obeyesekere; George J Klein; Simon Modi; Peter Leong-Sit; Lorne J Gula; Raymond Yee; Allan C Skanes; Andrew D Krahn
Journal:  Circ Arrhythm Electrophysiol       Date:  2011-12

2.  A Comprehensive Clinical Genetics Approach to Critical Congenital Heart Disease in Infancy.

Authors:  Amy R Shikany; Benjamin J Landis; Ashley Parrott; Erin M Miller; Alyxis Coyan; Lauren Walters; Robert B Hinton; Paula Goldenberg; Stephanie M Ware
Journal:  J Pediatr       Date:  2020-07-25       Impact factor: 4.406

Review 3.  Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree relatives.

Authors:  Judith M A Verhagen; Marlies Kempers; Luc Cozijnsen; Berto J Bouma; Anthonie L Duijnhouwer; Jan G Post; Yvonne Hilhorst-Hofstee; Sebastiaan C A M Bekkers; Wilhelmina S Kerstjens-Frederikse; Thomas J van Brakel; Eric Lambermon; Marja W Wessels; Bart L Loeys; Jolien W Roos-Hesselink; Ingrid M B H van de Laar
Journal:  Int J Cardiol       Date:  2018-02-07       Impact factor: 4.164

4.  Genetic testing in dyslipidemia: A scientific statement from the National Lipid Association.

Authors:  Emily E Brown; Amy C Sturm; Marina Cuchel; Lynne T Braun; P Barton Duell; James A Underberg; Terry A Jacobson; Robert A Hegele
Journal:  J Clin Lipidol       Date:  2020-05-07       Impact factor: 4.766

Review 5.  At-home genetic testing in pediatrics.

Authors:  Scott M Weissman; Brianne Kirkpatrick; Erica Ramos
Journal:  Curr Opin Pediatr       Date:  2019-12       Impact factor: 2.856

6.  Genetics, Clinical Features, and Long-Term Outcome of Noncompaction Cardiomyopathy.

Authors:  Jaap I van Waning; Kadir Caliskan; Yvonne M Hoedemaekers; Karin Y van Spaendonck-Zwarts; Annette F Baas; S Matthijs Boekholdt; Joost P van Melle; Arco J Teske; Folkert W Asselbergs; Ad P C M Backx; Gideon J du Marchie Sarvaas; Michiel Dalinghaus; Johannes M P J Breur; Marijke P M Linschoten; Laura A Verlooij; Isabella Kardys; Dennis Dooijes; Ronald H Lekanne Deprez; Arne S IJpma; Maarten P van den Berg; Robert M W Hofstra; Marjon A van Slegtenhorst; Jan D H Jongbloed; Danielle Majoor-Krakauer
Journal:  J Am Coll Cardiol       Date:  2018-02-20       Impact factor: 24.094

7.  Genomic analyses implicate noncoding de novo variants in congenital heart disease.

Authors:  Felix Richter; Sarah U Morton; Seong Won Kim; Alexander Kitaygorodsky; Lauren K Wasson; Kathleen M Chen; Jian Zhou; Hongjian Qi; Nihir Patel; Steven R DePalma; Michael Parfenov; Jason Homsy; Joshua M Gorham; Kathryn B Manheimer; Matthew Velinder; Andrew Farrell; Gabor Marth; Eric E Schadt; Jonathan R Kaltman; Jane W Newburger; Alessandro Giardini; Elizabeth Goldmuntz; Martina Brueckner; Richard Kim; George A Porter; Daniel Bernstein; Wendy K Chung; Deepak Srivastava; Martin Tristani-Firouzi; Olga G Troyanskaya; Diane E Dickel; Yufeng Shen; Jonathan G Seidman; Christine E Seidman; Bruce D Gelb
Journal:  Nat Genet       Date:  2020-06-29       Impact factor: 38.330

8.  Genomic screening and genomic diagnostic testing-two very different kettles of fish.

Authors:  Leslie G Biesecker
Journal:  Genome Med       Date:  2019-11-27       Impact factor: 11.117

9.  Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.

Authors:  Connie R Bezzina; Julien Barc; Yuka Mizusawa; Carol Ann Remme; Jean-Baptiste Gourraud; Floriane Simonet; Arie O Verkerk; Peter J Schwartz; Lia Crotti; Federica Dagradi; Pascale Guicheney; Véronique Fressart; Antoine Leenhardt; Charles Antzelevitch; Susan Bartkowiak; Martin Borggrefe; Rainer Schimpf; Eric Schulze-Bahr; Sven Zumhagen; Elijah R Behr; Rachel Bastiaenen; Jacob Tfelt-Hansen; Morten Salling Olesen; Stefan Kääb; Britt M Beckmann; Peter Weeke; Hiroshi Watanabe; Naoto Endo; Tohru Minamino; Minoru Horie; Seiko Ohno; Kanae Hasegawa; Naomasa Makita; Akihiko Nogami; Wataru Shimizu; Takeshi Aiba; Philippe Froguel; Beverley Balkau; Olivier Lantieri; Margherita Torchio; Cornelia Wiese; David Weber; Rianne Wolswinkel; Ruben Coronel; Bas J Boukens; Stéphane Bézieau; Eric Charpentier; Stéphanie Chatel; Aurore Despres; Françoise Gros; Florence Kyndt; Simon Lecointe; Pierre Lindenbaum; Vincent Portero; Jade Violleau; Manfred Gessler; Hanno L Tan; Dan M Roden; Vincent M Christoffels; Hervé Le Marec; Arthur A Wilde; Vincent Probst; Jean-Jacques Schott; Christian Dina; Richard Redon
Journal:  Nat Genet       Date:  2013-07-21       Impact factor: 38.330

10.  Critical assessment of secondary findings in genes linked to primary arrhythmia syndromes.

Authors:  Isabel Diebold; Ulrike Schön; Florentine Scharf; Anna Benet-Pagès; Andreas Laner; Elke Holinski-Feder; Angela Abicht
Journal:  Hum Mutat       Date:  2020-02-18       Impact factor: 4.878

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  6 in total

1.  European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases.

Authors:  Arthur A M Wilde; Christopher Semsarian; Manlio F Márquez; Alireza Sepehri Shamloo; Michael J Ackerman; Euan A Ashley; Back Sternick Eduardo; Héctor Barajas-Martinez; Elijah R Behr; Connie R Bezzina; Jeroen Breckpot; Philippe Charron; Priya Chockalingam; Lia Crotti; Michael H Gollob; Steven Lubitz; Naomasa Makita; Seiko Ohno; Martín Ortiz-Genga; Luciana Sacilotto; Eric Schulze-Bahr; Wataru Shimizu; Nona Sotoodehnia; Rafik Tadros; James S Ware; David S Winlaw; Elizabeth S Kaufman; Takeshi Aiba; Andreas Bollmann; Jong-Il Choi; Aarti Dalal; Francisco Darrieux; John Giudicessi; Mariana Guerchicoff; Kui Hong; Andrew D Krahn; Ciorsti Mac Intyre; Judith A Mackall; Lluís Mont; Carlo Napolitano; Pablo Ochoa Juan; Petr Peichl; Alexandre C Pereira; Peter J Schwartz; Jon Skinner; Christoph Stellbrink; Jacob Tfelt-Hansen; Thomas Deneke
Journal:  J Arrhythm       Date:  2022-05-31

2.  Prenatal Diagnosis Using Chromosomal Microarray Analysis in High-Risk Pregnancies.

Authors:  Ching-Hua Hsiao; Jia-Shing Chen; Yu-Ming Shiao; Yann-Jang Chen; Ching-Hsuan Chen; Woei-Chyn Chu; Yi-Cheng Wu
Journal:  J Clin Med       Date:  2022-06-23       Impact factor: 4.964

3.  European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) Expert Consensus Statement on the state of genetic testing for cardiac diseases.

Authors:  Arthur A M Wilde; Christopher Semsarian; Manlio F Márquez; Alireza Sepehri Shamloo; Michael J Ackerman; Euan A Ashley; Eduardo Back Sternick; Héctor Barajas-Martinez; Elijah R Behr; Connie R Bezzina; Jeroen Breckpot; Philippe Charron; Priya Chockalingam; Lia Crotti; Michael H Gollob; Steven Lubitz; Naomasa Makita; Seiko Ohno; Martín Ortiz-Genga; Luciana Sacilotto; Eric Schulze-Bahr; Wataru Shimizu; Nona Sotoodehnia; Rafik Tadros; James S Ware; David S Winlaw; Elizabeth S Kaufman; Takeshi Aiba; Andreas Bollmann; Jong Il Choi; Aarti Dalal; Francisco Darrieux; John Giudicessi; Mariana Guerchicoff; Kui Hong; Andrew D Krahn; Ciorsti MacIntyre; Judith A Mackall; Lluís Mont; Carlo Napolitano; Juan Pablo Ochoa; Petr Peichl; Alexandre C Pereira; Peter J Schwartz; Jon Skinner; Christoph Stellbrink; Jacob Tfelt-Hansen; Thomas Deneke
Journal:  Europace       Date:  2022-09-01       Impact factor: 5.486

4.  Signal-to-Noise Analysis Can Inform the Likelihood That Incidentally Identified Variants in Sarcomeric Genes Are Associated with Pediatric Cardiomyopathy.

Authors:  Leonie M Kurzlechner; Edward G Jones; Amy M Berkman; Hanna J Tadros; Jill A Rosenfeld; Yaping Yang; Hari Tunuguntla; Hugh D Allen; Jeffrey J Kim; Andrew P Landstrom
Journal:  J Pers Med       Date:  2022-04-30

Review 5.  Artificial Intelligence and Cardiovascular Genetics.

Authors:  Chayakrit Krittanawong; Kipp W Johnson; Edward Choi; Scott Kaplin; Eric Venner; Mullai Murugan; Zhen Wang; Benjamin S Glicksberg; Christopher I Amos; Michael C Schatz; W H Wilson Tang
Journal:  Life (Basel)       Date:  2022-02-14

6.  Integrated guidance to enhance the care of children and adolescents with familial hypercholesterolaemia: Practical advice for the community clinician.

Authors:  Ari E Horton; Andrew C Martin; Shubha Srinivasan; Robert N Justo; Nicola K Poplawski; David Sullivan; Tom Brett; Clara K Chow; Stephen J Nicholls; Jing Pang; Gerald F Watts
Journal:  J Paediatr Child Health       Date:  2022-07-15       Impact factor: 1.929

  6 in total

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