Genetics in congenital heart disease. Are we ready for it?

被引:0
作者
De Backer, Julie [1 ,2 ]
Callewaert, Bert [1 ]
Mosquera, Laura Muino [1 ,3 ]
机构
[1] Ghent Univ Hosp, Ctr Med Genet, Gante, Belgium
[2] Ghent Univ Hosp, Dept Cardiol, Route 1485 C Heymanslaan 10, B-9000 Gante, Belgium
[3] Ghent Univ Hosp, Dept Pediat, Div Pediat Cardiol, Gante, Belgium
来源
REVISTA ESPANOLA DE CARDIOLOGIA | 2020年 / 73卷 / 11期
关键词
Congenital heart disease; Genetic counseling; Genetic testing; CARDIAC DEFECTS; RECURRENCE; MUTATIONS; RELATIVES; GENOMICS; RISK; MALFORMATIONS; ASSOCIATION; PREVALENCE; GUIDELINES;
D O I
10.1016/j.recesp.2020.05.031
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
Genetics has rightly acquired an important place in almost all medical disciplines in recent years and this is certainly the case in the field of congenital cardiology. Not only has this led to greater insight into the pathophysiology of congenital heart defects but it also has a beneficial impact on patient management. Integration of clinical genetics in multidisciplinary centers of expertise for CHD is therefore a clear recommendation. Adult and pediatric cardiologists play a crucial role in the process of genetic evaluation of patients and families and should have be familiar with red flags for referral for further clinical genetic elaboration, counseling, and eventual testing. Some basic knowledge is also important for the correct interpretation of genetic testing results. In this review article, we provide a practical overview of what genetic evaluation entails, which type of genetic tests are possible today, and how this can be used in practice for the individual patient. (C) 2020 Sociedad Espanola de Cardiologia. Published by Elsevier Espana, S.L.U. All rights reserved.
引用
收藏
页码:937 / 947
页数:11
相关论文
共 69 条
[1]  
Béroud C, 2000, HUM MUTAT, V15, P86, DOI 10.1002/(SICI)1098-1004(200001)15:1<86::AID-HUMU16>3.0.CO
[2]  
2-4
[3]   High-resolution analysis of DNA copy number using oligonucleotide microarrays [J].
Bignell, GR ;
Huang, J ;
Greshock, J ;
Watt, S ;
Butler, A ;
West, S ;
Grigorova, M ;
Jones, KW ;
Wei, W ;
Stratton, MR ;
Futreal, PA ;
Weber, B ;
Shapero, MH ;
Wooster, R .
GENOME RESEARCH, 2004, 14 (02) :287-295
[4]   Genetic counselling in parents of children with congenital heart disease significantly improves knowledge about causation and enhances psychosocial functioning [J].
Blue, Gillian M. ;
Kasparian, Nadine A. ;
Sholler, Gary F. ;
Kirk, Edwin P. ;
Winlaw, David S. .
INTERNATIONAL JOURNAL OF CARDIOLOGY, 2015, 178 :124-130
[5]   Statement of the ESHG on direct-to-consumer genetic testing for health-related purposes European Society of Human Genetics [J].
Borry, P. .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2010, 18 (12) :1271-1273
[6]   Recommendations for the integration of genomics into clinical practice [J].
Bowdin, Sarah ;
Gilbert, Adel ;
Bedoukian, Emma ;
Carew, Christopher ;
Adam, Margaret P. ;
Belmont, John ;
Bernhardt, Barbara ;
Biesecker, Leslie ;
Bjornsson, Hans T. ;
Blitzer, Miriam ;
D'Alessandro, Lisa C. A. ;
Deardorff, Matthew A. ;
Demmer, Laurie ;
Elliott, Alison ;
Feldman, Gerald L. ;
Glass, Ian A. ;
Herman, Gail ;
Hindorff, Lucia ;
Hisama, Fuki ;
Hudgins, Louanne ;
Innes, A. Micheil ;
Jackson, Laird ;
Jarvik, Gail ;
Kim, Raymond ;
Korf, Bruce ;
Ledbetter, David H. ;
Li, Mindy ;
Liston, Eriskay ;
Marshall, Christian ;
Medne, Livija ;
Meyn, M. Stephen ;
Monfared, Nasim ;
Morton, Cynthia ;
Mulvihill, John J. ;
Plon, Sharon E. ;
Rehm, Heidi ;
Roberts, Amy ;
Shuman, Cheryl ;
Spinner, Nancy B. ;
Stavropoulos, D. James ;
Valverde, Kathleen ;
Waggoner, Darrel J. ;
Wilkens, Alisha ;
Cohn, Ronald D. ;
Krantz, Ian D. .
GENETICS IN MEDICINE, 2016, 18 (11) :1075-1084
[7]   CARDIAC-MALFORMATIONS IN RELATIVES OF INFANTS WITH HYPOPLASTIC LEFT-HEART SYNDROME [J].
BRENNER, JI ;
BERG, KA ;
SCHNEIDER, DS ;
CLARK, EB ;
BOUGHMAN, JA .
AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1989, 143 (12) :1492-1494
[8]   Recurrence risks in offspring of adults with major heart defects: results from first cohort of British collaborative study [J].
Burn, J ;
Brennan, P ;
Little, J ;
Holloway, S ;
Coffey, R ;
Somerville, J ;
Dennis, NR ;
Allan, L ;
Arnold, R ;
Deanfield, JE ;
Godman, M ;
Houston, A ;
Keeton, B ;
Oakley, C ;
Scott, O ;
Silove, E ;
Wilkinson, J ;
Pembrey, M ;
Hunter, AS .
LANCET, 1998, 351 (9099) :311-316
[9]   Familial recurrence of congenital heart disease: an overview and review of the literature [J].
Calcagni, Giulio ;
Digilio, M. Cristina ;
Sarkozy, Anna ;
Dallapiccola, Bruno ;
Marino, Bruno .
EUROPEAN JOURNAL OF PEDIATRICS, 2007, 166 (02) :111-116
[10]   Noninvasive prenatal testing for chromosome aneuploidies and subchromosomal microdeletions/microduplications in a cohort of 42,910 single pregnancies with different clinical features [J].
Chen, Yibo ;
Yu, Qi ;
Mao, Xiongying ;
Lei, Wei ;
He, Miaonan ;
Lu, Wenbo .
HUMAN GENOMICS, 2019, 13 (01)