The genetic workup for structural congenital heart disease

Abstract

Congenital heart disease (CHD) is the most prevalent birth defect and is the result of multiple etiologies including genetic and environmental causes. This article reviews the genetic workup for structural CHD in the clinical setting, beginning with CHD epidemiology and etiology and then moving to genetic testing, clinical evaluation, and genetic counseling. An algorithm is presented as a guide to genetic test selection, and available tests are explained with their respective advantages and limitations. Finally, future advances are discussed. As this review focuses on structural heart disease, isolated cardiomyopathies, inherited primary arrhythmia syndromes and aortopathies are not discussed.

Genetic counseling for congenital heart disease – Practice resource of the National Society of Genetic Counselors

“…It is likely that knowledge regarding these association will evolve as more is learned. The ‘complex’ Botto classification is not represented in this table, as this is defined as the presence of multiple cardiac anomalies spanning several Botto categories (Sources: Botto et al, 2007; De Backer et al., 2019; Jerves et al, 2020; Nees & Chung, 2020; Pierpont et al., 2018; Williams et al, 2019).…”

Genetic considerations for adults with congenital heart disease

“…Various indications for genetic testing had been proposed previously. Jerves, Beaton, and Kruszka () proposed an algorithm for genetic workup of structural CHD, which is also applicable to the ACHD population. Table summarizes common indications for genetic evaluation referral in ACHD patients with nonsyndromic CHD, including patients with a personal or family history of CHD considering family planning.…”

“…A multidisciplinary approach with the involvement of the genetics team when genetic testing is considered provides the best care to our patients.4 | CLINICAL USE OF GENETIC TESTING IN ADULTS WITH CHDGenerally, purposes of genetic testing are: (a) to establish a diagnosis and help direct the screening of cardiac or noncardiac complications, (b) to provide prognostic information; and (c) to provide information on inheritance to guide a need for family screening. Various indications for genetic testing had been proposed previously Jerves, Beaton, and Kruszka (2019). proposed an algorithm for genetic workup of structural CHD, which is also applicable to the ACHD population.Table 1summarizes common indications for genetic evaluation referral in ACHD patients with nonsyndromic CHD, including patients with a personal or family history of CHD considering family planning.The use of genetic testing is increasing in the ACHD population, with increased numbers of patients entering reproductive age.Between 1998 and 2007, the number of annual deliveries in women with CHD has risen by 35% as compared to a 21% increase in women with no CHD(Opotowsky et al, 2012).…”

The state of congenital heart disease

“…Using this knowledge, the editors have provided an updated diagnostic algorithm for CHD (Jerves, Beaton, & Kruszka, 2019).…”

“…In this special issue of the American Journal of Medical Genetics Part C focusing on CHD, prominent investigators in the field of genetics and CHD review current knowledge on syndromic CHD (Lalani, ; Lin, Santoro, High, Goldenberg, & Gutmark‐Little, ; Meisner & Martin, , Linglart & Gelb, ), nonsyndromic CHD (Nees & Chung, ), and CHD animal models (Gabriel & Lo, ). Using this knowledge, the editors have provided an updated diagnostic algorithm for CHD (Jerves, Beaton, & Kruszka, ).…”