Key result
Familial cardiac screening was completed by 40% of at-risk first-degree family members, with uptake significantly reduced by additional congenital malformations in the affected infant (p=0.003).
Why the study?
LVOTO malformations have high heritability and screening is recommended for first-degree relatives, but the uptake of screening and parental genetic knowledge were unknown.
What is the uptake of familial cardiac screening and parental knowledge regarding heritability in families with an infant diagnosed with left ventricular outflow tract obstruction?
Observational (n=69)
No
What is the uptake of familial cardiac screening and parental knowledge regarding heritability in families with an infant diagnosed with left ventricular outflow tract obstruction?
Despite genetic counseling and basic parental knowledge, uptake of familial cardiac screening for living relatives of infants with LVOTO remains low, highlighting the need for follow-up outpatient counseling.
Low uptake despite counseling warrants caution assuming knowledge suffices; leaves open targeted strategies to boost adherence in LVOTO families.
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.
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Shikany et al. (2019) conducted an observational in Left ventricular outflow tract obstruction (LVOTO) (n=69). Familial cardiac screening was evaluated on Uptake of familial cardiac screening among at-risk first-degree family members. Familial cardiac screening was completed by 40% of at-risk first-degree family members, with uptake significantly reduced by additional congenital malformations in the affected infant (p=0.003).
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