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Left ventricular outflow tract obstruction: should cardiac screening be offered to first-degree relatives?
Wilhelmina S Kerstjens-Frederikse1, Gideon J Du Marchie Sarvaas, Jolien S Ruiter
1Department of Genetics, University Medical Centre Groningen, Groningen, The Netherlands. w.s.kerstjens@medgen.umcg.nl
Insights
Cardiac screening of relatives of patients with left ventricular outflow tract obstructions (LVOTOs) is justified. This approach can identify previously undetected bicuspid aortic valves, potentially preventing sudden cardiac death.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Left ventricular outflow tract obstructions (LVOTOs) are highly heritable congenital heart diseases.
- Bicuspid aortic valve, a type of LVOTO, is often asymptomatic but linked to sudden cardiac death.
- The necessity of cardiac screening for first-degree relatives of LVOTO patients remains understudied.
Purpose of the Study:
- To evaluate the justification for offering cardiac screening to relatives of pediatric patients diagnosed with LVOTO.
- To determine the prevalence of cardiac anomalies, particularly bicuspid aortic valves, in first-degree relatives of LVOTO patients.
Main Methods:
- A cohort of 249 consecutive pediatric patients with LVOTO was studied.
- Genetic counseling was offered, and cardiac screening was performed on 449 first-degree relatives of 142 LVOTO patients without non-cardiac congenital anomalies (NCA).
Main Results:
- Cardiac screening identified a cardiac anomaly in 8% (34/449) of first-degree relatives.
- Bicuspid aortic valve was the most common anomaly (68% of detected cases), with 71% newly diagnosed.
- Affected relatives were identified in 20% of index cases without NCA.
Conclusions:
- A significant proportion (20%) of LVOTO patients without NCA have affected first-degree relatives, often with undiagnosed bicuspid aortic valves.
- Cardiac screening of relatives of LVOTO patients without NCA is clinically justified.
- This screening may aid in preventing adverse cardiac events, including sudden death, in relatives with undetected bicuspid aortic valves.
Objectives:
To determine whether offering cardiac screening to relatives of patients with left ventricular outflow tract obstructions (LVOTOs) would be justified.
Background:
LVOTOs have been recognised as a group of congenital heart diseases with 'high heritability'. One of the LVOTOs, the bicuspid aortic valve, is often asymptomatic, but has become known to be associated with sudden, unexpected cardiac death. However, the need for cardiac screening of first-degree relatives of patients with LVOTO has not been determined owing to the lack of studies in well-defined cohorts of consecutive patients.
Methods:
The families of a cohort of 249 consecutive paediatric patients with LVOTO were offered genetic counselling. Of 182 consenting index patients, 40 patients (22%) appeared to have associated non-cardiac congenital anomalies (LVOTO-NCA). In the other 142 patients with LVOTO, cardiac screening of 449 first-degree relatives was performed.
Results:
Cardiac screening disclosed a cardiac anomaly in 34 first-degree relatives (8%). In 23 (68%) of these the cardiac anomaly was a bicuspid aortic valve. Twenty-four of these anomalies were newly detected by our screening programme (71%). These 34 cardiac anomalies were found in the families of 28 index cases (20%).
Conclusions:
This study shows that of the patients with LVOTO without NCA, 20% had (an) affected first-degree relative(s), frequently with undetected bicuspid aortic valves. These data suggest that cardiac screening of relatives of patients with LVOTO without NCA is justified. This may help prevent sudden, unexpected, cardiac death or life-threatening complications in relatives with undetected bicuspid aortic valves.
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