Familial hypercholesterolaemia IIA with bicuspid aortic valve.

Bicuspid Aortic Valve: An Unusual Cause of Aneurysm of Left Coronary Sinus of Valsalva

Bicuspid aortic valve is traditionally considered an innocuous congenital anomaly. Due to a better and widespread availability of non-invasive imaging techniques, it has come to the fore that 30% of these cases develop complications, viz., valve abnormality (aortic regurgitation and stenosis), and aneurysm of aortic root and ascending aorta. Sinus of Valsalva aneurysm is an uncommon complicatio...

The bicuspid aortic valve: adverse outcomes from infancy to old age.

The population frequency of a bicuspid aortic valve is 0.9% to 1.36%,1–3 with a 2:1 male:female ratio. It is likely that the presence of a bicuspid aortic valve has a genetic basis, with the pattern of transmission in some families suggesting an autosomal dominant pattern of inheritance.4,5 Epidemiological data from the BaltimoreWashington Infant Study demonstrated the familial clustering of le...

Cross sectional echocardiographic assessment of the aortic root and coronary ostial stenosis in familial hypercholesterolaemia.

Aortic root abnormalities (atherosclerotic thickening and obstruction) seen at necropsy may readily be detected by aortography in familial hypercholesterolaemia. We studied 35 patients with familial types IIa and IIb hyperlipoproteinaemia including three homozygotes and 32 heterozygotes. Two homozygotes showed abnormal bright echoes (atheroma) encircling the proximal aortic root, which interfer...

Extent and severity of atherosclerotic involvement of the aortic valve and root in familial hypercholesterolaemia.

OBJECTIVE To compare the frequency of valvar and supravalvar aortic stenosis in homozygous and heterozygous familial hypercholesterolaemia (FH). DESIGN Analysis of life time cholesterol exposure and prevalence of aortic atherosclerosis in 84 consecutive cases attending a lipid clinic. SETTING A tertiary referral centre in London. PATIENTS Outpatients with FH (six homozygous, 78 heterozygo...

Author's response to reviews Title: Sequencing of NOTCH1, GATA5, TGFBRI AND TGFBRII genes in familial cases of Bicuspid Aortic Valve Authors: