Complex disease management of pregnant young patient with familial hypercholesterolaemia complicated by coronary artery disease and cerebrovascular disease.

Inherited disorders of lipid metabolism may cause a heavy burden of cardiovascular disease early in life. Familial hypercholesterolaemia (FH) with abnormalities of LDL metabolism results in marked LDL elevations and accelerated, multivessel atherosclerosis presenting in teenage or young adulthood. We describe the case of a 33-year-old woman who presented with exertional angina in the setting of pregnancy who was found post-partum to have severe triple-vessel disease including left main disease on coronary angiography (Figs. 1 and 2). She was also noted to have a typical supravalvular "hourglass" [1] abnormality of the aortic root (Fig. 3), and heavy calcification of the proximal aorta precluding conventional aortic cross clamping and bypass surgery. After discussion with the multidisciplinary team, her disease was felt to be amenable to a beating-heart coronary bypass technique with an anaortic approach to minimise the possibility of cerebral embolism. Significant extracranial cerebrovascular disease, a major risk for cardiopulmonary bypass, reinforced the beating-heart technique. Her ongoing management has consisted of medical therapy with cessation of breast feeding, statins, ezetimibe, and introduction of PCSK9-inhibitor therapy. This case illustrates a number of the difficulties associated with management of widespread atherosclerotic disease associated with FH, in which an excellent outcome was achieved with the assistance of a multi-disciplinary team.