Left ventricular outflow tract obstruction: Uptake of familial cardiac screening and parental knowledge from a single tertiary care center

Abstract

Left ventricular outflow tract obstruction (LVOTO) malformations exhibit higher heritability than other cardiac lesions and cardiac screening is encouraged for first‐degree relatives. This study sought to determine the uptake of familial cardiac screening in families with an infant with an LVOTO and assess parental knowledge regarding genetics and heritability of LVOTO. A chart review of the period 2010–2015 identified 69 families who received genetic counseling regarding a diagnosis of LVOTO in an infant. Surveys assessing familial cardiac screening and parental knowledge were completed by a parent in 24 families (completion rate of 35%). Forty percent (36/89) of all at‐risk first‐degree family members completed cardiac screening. The presence of additional congenital malformations in the affected infant was the only significant factor reducing the uptake of familial cardiac screening (p = 0.003). The reported uptake of screening for subsequent at‐risk pregnancies was 11/12 (92%) compared to 25/77 (32%) of living at‐risk relatives. Survey respondents answered seven knowledge questions with an average score of 5.2 and all correctly identified that LVOTO can run in families. Uptake of familial cardiac screening is occurring in less than half of at‐risk individuals, despite parents demonstrating basic knowledge and receiving genetic counseling. Follow‐up counseling in the outpatient setting to review familial screening recommendations should be considered to increase uptake and optimize outcomes.

Retrospective comparison of parent‐reported genetics knowledge, empowerment, and familial uptake of cardiac screening between parents who received genetic counseling by a certified genetic counselor and those who did not: A single US academic medical center study

“…Of the total first-degree relatives of the probands who received genetic counseling by a board-certified genetic counselor, 66% (39/59) had cardiac screening. In comparison, a similar study by Shikany et al (2019) found the uptake of cardiac screening among first-degree relatives of infants with left ventricular outflow tract obstructions who received genetic counseling by a genetic counselor to be 40% (36/89). The lower uptake of cardiac screening in this cohort may have been because genetic counseling was completed in the high-stress setting of the cardiac intensive care unit (CICU).…”

“…The first section collected demographics. The second assessed parental genetics knowledge in regard to the heritability of BAV, risks, and recommendations based on the items used in Shikany et al (2019). The questions were modified to more appropriately assess knowledge related to the inheritance and genetics of BAV.…”

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

“…However, there are limited data on the efficacy of different cardiogenetics clinic models. Individuals and families with CHDs have identified genetic counselors and cardiologists as primary sources for genetic information (Van Engelen et al, 2011;Kasparian et al, ,2014Kasparian et al, , , 2018Shikany et al, 2019). In one study, 93% of parents of children with CHDs reported being most likely to attend a cardiogenetics clinical visit if there would be access to a geneticist and genetic counselor and in a timely manner (Kasparian et al, 2014).…”

Pregnancy related changes in Doppler gradients and left ventricular mechanics in women with sub‐valvular or valvular aortic stenosis

“…3 All lesions result in varying degrees of systolic flow obstruction from the left ventricle (LV) to the ascending aorta. 4 Pregnancy is a state of increased physiologic demand and profound hemodynamic changes which results in increased preload and cardiac output. [5][6][7] As such, valvular Doppler gradients are expected to increase with normal pregnancy.…”

“…These may occur individually or in association with other anomalies such as coarctation of aorta or hypoplastic left heart 3 . All lesions result in varying degrees of systolic flow obstruction from the left ventricle (LV) to the ascending aorta 4 …”