Cardiovascular genetic counseling (CVGC) is recommended for a variety of inherited heart conditions; however, its impact on patient empowerment has not been assessed. The Genetic Counseling Outcome Scale (GCOS) is a validated patient reported outcome tool which measures empowerment to capture the impact of clinical genetics services. As a routine clinical practice at our center, adult patients attending a CVGC appointment complete the 24‐item GCOS survey and a 5‐item survey on knowledge of cardiac surveillance recommendations for relatives prior to the clinic visit. To investigate the effect of CVGC, we contacted participants after the appointment to repeat these surveys prior to genetic test result disclosure. Forty‐two participants completed pre‐ and post‐GC surveys. The mean difference between pre‐ and post‐GC empowerment scores was 17.5 points (mean pre‐GC score = 118.5, mean post‐GC score = 136, p < 0.0001; effect size, d = 0.94). Forty percent of individuals (17/42) were aware of surveillance recommendations for at‐risk family members prior to GC; this increased to 76% of individuals (32/42) post‐GC (p < 0.01). This is the first study to explore patient empowerment before and after GC in a cardiology setting. The results demonstrate a significant increase in empowerment and awareness of recommendations for at‐risk relatives as a result of CVGC. This study demonstrates the utility of CVGC in patient care.

Five candidate plasma biomarkers (ST2, REG3α, elafin, TNFR1, sIL2Rα) were measured at specific time-points following cyclophosphamide/fludarabine-based nonmyeloablative allotransplantation (NMAT) in patients who did or did not develop acute graft-versus-host-disease (aGVHD). Plasma samples from 34 patients were analyzed at days +7, +14, +21 and +30. At a median follow-up of 358 days, 17 patients had experienced aGVHD with a median time to onset of day +36. Risk of aGVHD was associated with elevated plasma ST2 concentrations at day +7 (c-stat=0.72, p=0.03), day +14 (c-stat=0.74, p=0.04), and day +21 (c-stat=0.75, p=0.02); elevated plasma REG3α concentrations at day +14 (c-stat=0.73, p=0.03), day +21 (c-stat=0.76, p=0.01) and day +30 (c-stat=0.73, p=0.03); and elevated elafin at day +14 (c-stat=0.71, p=0.04). Plasma concentrations of TNFR1 and sIL2Rα were not associated with aGVHD risk at any of the time-points studied. This study identified ST2, REG3α and elafin as prognostic biomarkers to evaluate risk of aGVHD following Cy/Flu-based NMAT. These results need to be confirmed in an independent validation cohort.

Background Our cardiac center established a systematic approach for inpatient cardiovascular genetics evaluations of infants with congenital heart disease, including routine chromosomal microarray (CMA) testing. This provides a new opportunity to investigate correlation between genetic abnormalities and postoperative course. Methods and Results Infants who underwent congenital heart disease surgery as neonates (aged ≤28 days) from 2015 to 2020 were identified. Cases with trisomy 21 or 18 were excluded. Diagnostic genetic results or CMA with variant of uncertain significance were considered abnormal. We compared postoperative outcomes following initial congenital heart disease surgery in patients found to have genetic abnormality to those who had negative CMA. Among 355 eligible patients, genetics consultations or CMA were completed in 88%. A genetic abnormality was identified in 73 patients (21%), whereas 221 had negative CMA results. Genetic abnormality was associated with prematurity, extracardiac anomaly, and lower weight at surgery. Operative mortality rate was 9.6% in patients with a genetic abnormality versus 4.1% in patients without an identified genetic abnormality ( P =0.080). Mortality was similar when genetic evaluations were diagnostic (9.3%) or identified a variant of uncertain significance on CMA (10.0%). Among 14 patients with 22q11.2 deletion, the 2 mortality cases had additional CMA findings. In patients without extracardiac anomaly, genetic abnormality was independently associated with increased mortality ( P =0.019). CMA abnormality was not associated with postoperative length of hospitalization, extracorporeal membrane oxygenation, or >7 days to initial extubation. Conclusions Routine genetic evaluations and CMA may help to stratify mortality risk in severe congenital heart disease with syndromic or nonsyndromic presentations.

AbstractCongenital 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.