Background Bicuspid aortic valve (BAV) disease is one of the most common congenital cardiac abnormalities with prevalence in the general population of up to 2%. There has been growing evidence supporting its familial predisposition with an autosomal dominant pattern of inheritance. It is often associated with ascending aortic dilatation and dissection, occurring at a younger age than in patients with idiopathic aortic aneurysms. BAV disease carries a 6% lifetime risk of aortic dissection, 9 times higher than that of the general population. Thus, the presence of BAV and dilatation of the ascending aorta requires regular monitoring with a view to timely pre-emptive surgery. Current ACC/AHA guidelines state that echocardiographic screening of first degree relatives of patients with BAV is recommended. This, however, to our knowledge, is not routinely done within the UK.
Methodology and Results We set out to explore the practicalities of running a routine echocardiographic screening programme for first degree relatives of patients with BAV disease. We identified a total of 47 patients who had undergone aortic valve surgery performed by the same Consultant Cardiothoracic Surgeon in the context of BAV disease in the period May 2007–September 2009. Screening of first degree relatives was offered to these patients. 24 patients (51%) gave us information regarding family members who would like to attend for an echocardiogram. A total of 75 first degree relatives were referred–an approximate average of 3 per patient. Out of these, 52 relatives (70%) actually attended for an appointment. The remainder did not undergo testing with us as they either lived in a different geographic region or expressed a personal preference not to be scanned at this time. The incidence of newly diagnosed bicuspid aortic valve disease in our cohort of first degree relatives was 8% (4 out of 52 relatives). One of these asymptomatic individuals had a significant ascending aortic aneurysm, which required prompt surgery. Among the relatives of the 24 index patients, there were a total of 8 cases (3: 1 ratio) of bicuspid aortic valve disease—either known or newly diagnosed via screening.
Conclusions There is a relatively high prevalence and incidence of bicuspid aortic valve disease among first degree relatives of patients with this common congenital cardiac abnormality. Routine echocardiographic screening should be offered to these families. Implementing such a programme is limited by adequate motivation to attend for a screening test if well, and by varying clinical practice in different geographic regions. Patients with bicuspid aortic valve disease should be made aware of its familial pattern of inheritance and screening of their first degree relatives should be actively pursued in order to reduce the potential morbidity and mortality associated with this condition and its related aortopathy.
- aortic aneurysm
- familial screening