Genetic Counseling in the Adult with Congenital Heart Disease: What is the Role?

Abstract

New discoveries using high-resolution methods for detecting genetic aberrations indicate that the genetic contribution to congenital heart disease has been significantly underestimated in the past. DNA diagnostics have become more accessible and genetic test results are increasingly being used to guide clinical management. Adult congenital heart disease specialists seeking to counsel adults with congenital heart disease about the genetic aspects of their condition face the challenge of keeping abreast of new genetic techniques and discoveries. The emphasis of this review is on the genetic basis of structural cardiovascular defects. A framework for identifying adult congenital heart disease patients most likely to benefit from genetic testing is suggested, along with a summary of current techniques for genetic testing. The clinical and ethical challenges associated with genetic counseling are highlighted. Finally, emerging technologies and future directions in genetics and adult congenital heart disease are discussed.

Congenital Heart Disease in the Older Adult

“…249 Finally, identification of a genetic syndrome can help identify other organ system involvement that can guide management strategies and inform prognosis for outcomes. 250 The majority of adults with CHD have not had genetic testing or counseling. Even those found to have a genetic variation in childhood may not have received genetic counseling, either because they were too young to participate in the counseling process or the service was unavailable.…”

“…250,253 Genetic counseling typically starts before genetic testing and includes a discussion of the purpose, nature, limitations, and consequences of the genetic test in question. Positive consequences of genetic testing include relief of uncertainty surrounding a diagnosis, more accurate estimation of transmission risk, and identification of asymptomatic at-risk family members.…”

Reproductive Fitness and Genetic Transmission of Tetralogy of Fallot in the Molecular Age

“…The potential benefits of such general genetic counseling are clear. 4 Individualized genetic counseling would be possible where clinical genetic testing is indicated and available, for example, for individuals with large rare CNVs such as 22q11.2 deletions and 1q21.1 duplications. 7,49 Comparable individualized counseling may soon be extended to multiple other genetic factors that await clinical detection for individuals with TOF and other CHDs.…”

“…3 With patients surviving to reproductive age and beyond, there is a need for data to (1) comprehend the contemporary evolutionary selective pressure against TOF, and (2) inform genetic and reproductive counseling. 4 There are no previous studies of either reproductive fitness in adults with TOF of unknown cause (ie, excluding 22q11.2 deletions and other established syndromes), or of recurrence rates of CHD in the offspring of these men and women.…”

Management of Pregnancy in Patients With Complex Congenital Heart Disease: A Scientific Statement for Healthcare Professionals From the American Heart Association

“…A detailed 3-generation family history, including history of consanguinity and history of miscarriages, should be obtained in all pregnancies. 81,82 Maternal and paternal evaluation should be performed for clinical features suggestive of a syndromic phenotype. The absence of typical phenotypic features does not preclude the presence of a genetic or chromosomal anomaly; therefore, genetic testing may still be offered if the index of suspicion for a genetic pathogenesis is high.…”