Appropriate Use of Genetic Testing in Congenital Heart Disease Patients. - PubMed - NCBI

Appropriate Use of Genetic Testing in Congenital Heart Disease Patients. - PubMed - NCBI

Curr Cardiol Rep. 2017 Mar;19(3):24. doi: 10.1007/s11886-017-0834-1.

Appropriate Use of Genetic Testing in Congenital Heart Disease Patients.

Ito S1, Chapman KA2, Kisling M2, John AS3.

Author information

Abstract

PURPOSE OF REVIEW:

Congenital heart disease (CHD) remains the most common birth defect, occurring in 1% of all births. Although the exact etiology of CHD is still largely unknown, it is thought to be an interaction of genetic and non-genetic factors. The purposes of this review are to summarize recent advances in CHD genetics and testing and to present a suggested algorithm for appropriate use of genetic testing in patients with CHD.

RECENT FINDINGS:

Advances in genetic testing technology are rapidly expanding the options for screening and are providing further insights into the genetic and molecular background of non-syndromic CHD. As the field advances, the role of the geneticist and genetic counselor will continue to expand as the testing becomes more complex and interpretation of results becomes increasingly challenging. Coordination of practice between cardiologists and geneticists using a shared clinical structure is essential and will help improve cost utilization and facilitate individualized patient care.

KEYWORDS:

Congenital heart disease; Genetic counseling; Genetic testing

PMID:

 

28224467

 

DOI:

 

10.1007/s11886-017-0834-1

[PubMed - in process]

Last Posted: Mar 03, 2017

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• Appropriate Use of Genetic Testing in Congenital Heart Disease Patients.  
  Ito Seiji et al. Current cardiology reports 2017 Mar 19(3) 24
• Advances in the Genetics of Congenital Heart Disease: A Clinician's Guide.  
  Blue Gillian M et al. Journal of the American College of Cardiology 2017 Feb 69(7) 859-870
• Advances in the Genetics of Congenital Heart Disease- A Clinician’s Guide  
  GM Blue et al, JACC< February 2017
• Genetics of Congenital Heart Disease: Past and Present.  
  Muntean Iolanda et al. Biochemical genetics 2016 Nov
• What Is New in Genetics of Congenital Heart Defects?  
  Digilio Maria Cristina et al. Frontiers in pediatrics 2016 4120
• Genetics of inherited cardiocutaneous syndromes: a review.  
  Bardawil Tara et al. Open heart 2016 (2) e000442
• Genetic Screening in Patients with Craniofacial Malformations.  
  Yoon Amanda J et al. Journal of pediatric genetics 2016 Dec 5(4) 220-224
• How Suitable Are Registry Data for Recurrence Risk Calculations? Validation of Diagnoses on 1,593 Families With Congenital Heart Disease.  
  Ellesøe Sabrina Gade et al. World journal for pediatric & congenital heart surgery 2016 Mar 7(2) 169-77
• Emerging Field of Cardiomics: High-Throughput Investigations into Transcriptional Regulation of Cardiovascular Development and Disease.  
  Slagle Christopher E et al. Trends in genetics : TIG 2016 Oct
• Genetics of bicuspid aortic valve aortopathy.  
  Andreassi Maria G et al. Current opinion in cardiology 2016 Nov 31(6) 585-592
• Family Based Whole Exome Sequencing Reveals the Multifaceted Role of Notch Signaling in Congenital Heart Disease  
  C Preus et al, PLOS Genetics, October 2016
• Beyond the Blood Spot: Newborn Screening for Hearing Loss and Critical Congenital Heart Disease
  CDC Public Health Grand Rounds, Septemeber 20, 2016
• Cytogenomic Aberrations in Congenital Cardiovascular Malformations.  
  Azamian Mahshid et al. Molecular syndromology 2016 May 7(2) 51-61
• Genetic Evaluation and Use of Chromosome Microarray in Patients with Isolated Heart Defects: Benefits and Challenges of a New Model in Cardiovascular Care.  
  Helm Benjamin M et al. Frontiers in cardiovascular medicine 2016 319
• Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing  
  A Siffrim et al, Nature Genetics, August 1, 2016
• A Biobank for Long-term and Sustainable Research in the Field of Congenital Heart Disease in Germany.  
  Pickardt Thomas et al. Genomics, proteomics & bioinformatics 2016 Apr

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