A case with familial hypercholesterolemia complicated with severe systemic atherosclerosis intensively treated for more than 30 years.

We present a case of a Japanese patient with familial hypercholesterolemia (FH) caused by a low-density lipoprotein (LDL) receptor gene mutation. A 47-year-old female was referred to our hospital due to her systemic xanthomatosis associated with elevated LDL-cholesterolemia (292 mg/dl). She was diagnosed with heterozygous FH, and started to be treated with simvastatin 10 mg. During her clinical course, she underwent percutaneous coronary intervention (PCI) (at 69 years), coronary artery bypass grafting (CABG) twice (at 62 years, and 75 years), femoral popliteal bypass surgery (at 67 years), together with intensification of lipid-lowering therapies, including proprotein convertase subtilisin/kexin type 9 (PCSK9) inhibitor. She was admitted to our hospital due to dyspnea on effort, caused by severe aortic valve stenosis as well as sick sinus syndrome at the age of 78 years. transcatheter aortic valve implantation (TAVI) using balloon expandable valve was successfully performed after DDD pacemaker implantation. She was discharged from our hospital without any symptoms. During more than 30 years of treatment period in our institute, we have introduced the latest therapeutic strategies, and treated her intensively. We are proud that we can save life even in this severe case through multiple strategies developed over the decades; however, this case clearly suggests that lipid-lowering therapies should be started much earlier in patients with FH. .

Antegrade Balloon Aortic Valvuloplasty for the Highly Frail Patient of Severe Aortic Stenosis Complicated with Transthyretin-type Cardiac Amyloidosis.

Transcatheter aortic valve implantation (TAVI) is widely accepted as the treatment for patient with severe aortic stenosis (AS) whose prognosis may be over one year; however, there is no consensus concerning extremely high-risk patients whose prognosis may not exceed one year. We herein report a highly frail patient with severe AS complicated with transthyretin-type cardiac amyloidosis who had a very poor prognosis. Given his condition, we treated him by percutaneous antegrade balloon aortic valvuloplasty (A-BAV) instead of TAVI. A-BAV may be a beneficial option for treating extremely high-risk severe AS patients, including those with cardiac amyloidosis.