Adolescents with congenital heart defects: a patient and parental perspective of genetic information and genetic risk

Abstract

<jats:title>Abstract</jats:title><jats:p>Congenital heart defects (CHDs) occur in 8 of 1000 live-born children, making them common birth defects in the adolescent population. CHDs may have single gene, chromosomal, or multifactorial causes. Despite evidence that patients with CHD want information on heritability and genetics, no studies have investigated the interest or knowledge base in the adolescent population. This information is necessary as patients in adolescence take greater ownership of their health care and discuss reproductive risks with their physicians. The objectives of this survey-based study were to determine adolescents’ recall of their own heart condition, to assess patient and parent perception of the genetic contribution to the adolescent’s CHD, and to obtain information about the preferred method(s) for education. The results show that adolescent patients had good recall of their type of CHD. Less than half of adolescents and parents believed their CHD had a genetic basis or was heritable; however, adolescents with a positive family history of CHD were more likely to believe that their condition was genetic (p = 0.0005). The majority of patients were interested in receiving additional genetics education and preferred education in-person and in consultation with both parents and a physician. The adolescents who felt most competent to have discussions with their doctors regarding potential causes of their heart defect previously had a school science course which covered topics in genetics. These results provide insight into adolescents’ perceptions and understanding about their CHD and genetic risk and may inform the creation and provision of additional genetic education.</jats:p>

Do adult patients with congenital colorectal conditions know their diagnosis?

“…Our results demonstrate that only 37.8% of patients correctly identify their diagnosis, and shockingly, seven patients (5.5%) were unaware that they had a congenital colorectal disorder at all. Sadly, this is in accordance with previous studies that investigated patients' understanding of their congenital colorectal and cardiac anomalies [4,[7][8][9]. Further examination of the group with ARMs found that females were three times more likely to be correct about their condition than their male counterparts.…”

“…Focus groups of adult patients in Sweden and Norway reported a strong desire to have better information about their condition, bowel function, fertility, and genetic heritability. This sentiment aligns with other studies of people living with chronic health conditions such as congenital heart defects (CHD) [5,7]. Previous studies have explored the knowledge of people born with CHD and have shown that 32-49% were unaware of the diagnosis, or incorrectly it, and that only 50-61% could describe their anomaly, or the related anatomy, in lay terms.…”

“…Further examination of the group with ARMs found that females were three times more likely to be correct about their condition than their male counterparts. This difference may be due to the association of memory recall and complexity of the lesion as noted in previous CHD studies since the most female patient-reported diagnosis was cloaca [7,9,12].…”

“…Previous studies have explored the knowledge of people born with CHD and have shown that 32-49% were unaware of the diagnosis, or incorrectly it, and that only 50-61% could describe their anomaly, or the related anatomy, in lay terms. Further highlighting this lack of awareness about the impact of their disease, 50% of patients did not understand the need for antibiotic prophylaxis, and 66% of female patients had not discussed pregnancy precautions with their medical team [7][8][9].…”

Assessing genetic counselors’ graduate school education and training in congenital heart defects

“…Many adult patients with CHD desire more information about the inheritance of CHDs, specifically in the case of reproductive decision‐making (van Engelen et al., 2011, 2013). Adolescents with CHDs have also expressed interest in receiving education on potential causes of CHDs and their recurrence risks (Crawford et al., 2020). Genetic counselors are a valuable resource to both patients and physicians, as they can consult on genetic testing strategies and family screening recommendations, and provide recurrence risk and psychosocial counseling to families affected by CHDs (Freeze et al., 2016).…”