Format

Send to

Choose Destination
J Genet Couns. 2019 Aug;28(4):779-789. doi: 10.1002/jgc4.1117. Epub 2019 Mar 25.

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

Author information

1
Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.
2
Division of Cardiology, Children's Hospital of Wisconsin, Milwaukee, Wisconsin.
3
Nemours Cardiac Center, Nemours Children's Hospital, Orlando, Florida.
4
Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

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.

KEYWORDS:

congenital heart disease; familial cardiac screening; genetic counseling; genetics; left ventricular outflow tract obstruction; parental knowledge; recurrence risk

PMID:
30907979
DOI:
10.1002/jgc4.1117

Supplemental Content

Full text links

Icon for Wiley
Loading ...
Support Center