Shuichi Takagi

Genetic variants in PCSK9 affect the cholesterol level in Japanese

AbstractMutations in the proprotein convertase subtilisin/kexin 9 (PCSK9) gene have been reported in affected members of two families with autosomal dominant hypercholesterolemia. To investigate the effects of common variants in PCSK9 on the cholesterol level, we conducted an association study using a large cohort representing the general population in Japan (n=1,793). Direct sequencing in all of the exonic regions identified 21 polymorphisms. After consideration of linkage disequilibrium among these polymorphisms, we selected and genotyped nine polymorphisms by the TaqMan method. The intron 1/C(-161)T and exon 9/I474 V polymorphisms were associated with levels of total cholesterol (TC) [C(-161)T, P=0.0285; I474 V, P=0.0069] and low-density lipoprotein cholesterol (LDL-C) [C(-161)T, P=0.0257; I474 V, P=0.0007]. The distributions of these polymorphisms in subjects with miocardial infarction (MI) (n=649) were not different from those in the control population. These results provide the first evidence that common variants intron 1/C(-161)T and exon 9/I474 V in PCSK9 significantly affect TC and LDL-C levels in the general population in Japan.

Reversible Right Ventricular Hypertrophy Due to Cardiac Sarcoidosis

A 42-year-old man was admitted to our hospital with shortness of breath on light effort. An ECG revealed advanced AV block (Figure 1A), and a chest CT scan showed markedly increased thickness (12 mm) of the right ventricular wall (Figure 2A). The endomyocardial biopsy showed a noncaseous epithelioid …

Continuous milrinone infusion during preoperative anti-inflammatory therapy in inflammatory aortic aneurysm complicating severe congestive heart failure.

Abstract. We report a 48-year-old man with inflammatory aortic aneurysm in the ascending aorta complicating severe heart failure due to massive aortic regurgitation. Continuous intravenous milrinone infusion was highly effective in reducing pulmonary arterial pressure and improving subjective symptoms during preoperative anti-inflammatory corticosteroid therapy over 7 weeks without any adverse effects or tolerance. Bentalls operation with a valved conduit was successfully performed after complete stabilization of inflammatory markers, and then milrinone was tapered off uneventfully. We consider that continuous milrinone infusion may be suitable for patients with surgically correctable inflammatory cardiovascular diseases complicating severe heart failure in whom maintenance of optimal hemodynamics is necessary for several weeks during preoperative anti-inflammatory corticosteroid therapy.