Left Ventricular Outflow Tract Obstruction: Should Cardiac Screening Be Offered to First Degree Relatives?

Study Questions:

Is screening of first-degree relatives (FDRs) of patients with left ventricular outflow tract obstructive (LVOTO) lesions a justifiable recommendation?


LVOTO lesions refer most commonly to bicuspid aortic valve (BAV) (which may not be obstructive), coarctation of the aorta, and hypoplastic left heart syndrome. Less common LVOTO entities include mitral stenosis, sub- or supra-valvular aortic stenosis, or interrupted aortic arch. All of these conditions have been known to occur within families with relatively high heritability. However, the utility of cardiac screening of FDRs is unknown.


A total of 249 consecutive patients (ages 0-20 years, mean age 8.5 years) with LVOTO at a single European pediatric center were assessed. Of these, 67 patients did not give consent and 40 patients had an identified syndrome with other noncardiac abnormalities and were excluded. The families of the remaining 142 patients with LVOTO were offered screening (detailed family history and cardiac echocardiographic examination).


The authors concluded that FDRs of patients with LVOTO have a high prevalence of previously undiagnosed cardiac abnormalities, the majority of which are BAV. Given the risk of aortic and valvular complications associated with BAV, offering family history screening and echocardiography is warranted.


Although the exact mechanism of inheritance in congenital heart disease in general, and BAV in particular, is not fully elucidated, these appear to be frequently heritable conditions. The findings of this study support the American College of Cardiology/American Heart Association thoracic aortic disease guideline recommendation (Class I, level of evidence C) that FDRs of BAV patients should be screened with echocardiography or other imaging modalities to assess for BAV and aortic enlargement.

Clinical Topics: Congenital Heart Disease and Pediatric Cardiology, Noninvasive Imaging, Valvular Heart Disease, Congenital Heart Disease, CHD and Pediatrics and Imaging, CHD and Pediatrics and Quality Improvement, Echocardiography/Ultrasound

Keywords: Risk, Heart Defects, Congenital, Ventricular Outflow Obstruction, Mitral Valve Stenosis, Hypoplastic Left Heart Syndrome, Heart Valve Diseases, Heart Ventricles, United States, Echocardiography

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