A novel homozygous missense mutation in PNPLA2 in a patient manifesting primary triglyceride deposit cardiomyovasculopathy.

Primary triglyceride deposit cardiomyovasculopathy (P-TGCV), caused by a rare genetic mutation in PNPLA2 encoding adipose triglyceride lipase (ATGL), exhibits severe cardiomyocyte steatosis and heart failure. Here, we report the case of a 51-year-old man with P-TGCV homozygous for a novel PNPLA2 mutation (c.446C > G, P149R) in the catalytic domain of ATGL. Analyses of endomyocardial biopsy specimens and in vitro expression experiments showed mutant protein expression with conserved lipid binding, but reduced lipolytic activity, indicating mutation pathogenicity.

The optimal cardiac phase for detecting the thrombi of the left atrial appendage on multi-slice computed tomography in patients with atrial fibrillation.

We evaluated patients with atrial fibrillation (Af) to define the optimal phase for ECG-gated image reconstruction for multi-slice CT (MSCT) of the left atrial appendage (LAA). We performed MSCT scans in 37 patients with Af, and we reconstructed multi-planar reformation images of the LAA, defined by the absolute delay (ms) immediately after the T wave, and by the relative delay (%). For visual analysis of the image quality for each image, a four-grade scoring system (poor to excellent) was used by two blinded, independent reviewers. Images obtained by absolute delay and by relative delay were classified as being of poor, fair, good, or excellent quality in 2, 2, 8, and 25 cases, and in 18, 11, 8, and 0 cases, respectively. This phase-definition strategy in Af patients is more effective by absolute delay than by relative delay, and MSCT could provide an alternative diagnostic assessment of LAA thrombi.

Reduction of infracardiac intestinal activity by a small amount of soda water in technetium-99m tetrofosmin myocardial perfusion scintigraphy with adenosine stress.

BACKGROUND: In technetium (Tc)-99m myocardial perfusion imaging (MPI), intestinal activity often interferes with the assessment of myocardial perfusion of the inferior wall. We examined whether a small amount of soda water prevents intestinal activity and improves image quality of the inferior wall in Tc-99m tetrofosmin MPI. METHODS AND RESULTS: Ninety-five patients referred for 1-day rest/stress Tc-99m tetrofosmin MPI were assigned to one of two groups automatically, according to the date when they underwent MPI: the soda water group (n = 63) ingested 100 mL soda water just before image acquisition after adenosine stress, and the control group (n = 32) underwent no intervention. The frequency of intestinal activity was assessed visually on planar images. The inferior myocardial wall and the abdominal activity adjacent to the myocardium were assessed quantitatively on three different planar images during stress, and the mean inferior wall-to-abdomen (I/A) count ratio was calculated. The frequency of intestinal activity was 69.8% in the soda water group, and 90.6% in the control group (P = .038). The I/A count ratio was significantly higher in the soda water group than in the control group (1.98 +/- 0.51 vs 1.50 +/- 0.35, respectively, P < .0001, +/- SD). CONCLUSIONS: The intake of 100 mL of soda water improves intestinal activity and improves the image quality of the inferior wall.

Hemodynamic and neurohormonal predictors and consequences of the development of atrial fibrillation in dogs with chronic heart failure.

BACKGROUND: Heart failure increases the risk of atrial fibrillation (AF), which frequently results in heart failure progression. This prospective study examined the contribution of hemodynamic and neurohormonal activation to the spontaneous occurrence of AF in heart failure, and assessed the effects of AF on left ventricular (LV) function and neurohormonal activation. METHODS AND RESULTS: Heart failure (LV ejection fraction [LVEF] 25%-30%) was induced in 27 dogs via sequential coronary microembolizations. Hemodynamic and neurohormonal measurements were performed at 1 month (prior to development of AF) and 4 months post-embolization. During the time between measurements, 10 dogs developed spontaneous AF. Plasma norepinephrine concentration (PNE) at 1 month was higher in animals that subsequently developed AF (576 + 101 vs. 425 + 197 pg/mL, P = .03). There were no significant differences between the groups in 1-month LV end-diastolic pressure (LVEDP), pulmonary artery wedge pressure (PAWP), cardiac output, end-diastolic volume (EDV), LVEF, or plasma renin activity (PRA). At 4 months, cardiac output was lower (2.1 + .4 vs. 2.6 + .6 L/h, P = .02) and PNE was higher (1036 + 857 vs. 508 + 288 pg/mL, P = .03) in dogs with AF versus those in sinus rhythm. There were no significant differences between groups in 4-month LVEDP, PAWP, EDV, LVEF, or PRA. CONCLUSION: Spontaneous AF in heart failure was preceded by a significant increase in PNE. In animals that developed AF, there was a further decline in cardiac output and increase in PNE.

Exploring a technique for reducing the influence of scattered rays from surrounding organs to the heart during myocardial perfusion scintigraphy with technetium-99m sestamibi and technetium-99m tetrofosmin.

We have devised a new position (Monzen position) which can suppress the influence of scattered rays from surrounding organs (liver, etc.) when conducting myocardial imaging. Unlike the conventional techniques, which require a waiting period of 30-60 minutes before imaging can be started after the infusion of technetium-99m sestamibi or technetium-99m tetrofosmin, this position allows single-photon emission tomography to be started about 5-10 minutes after the infusion of the tracer. Therefore, with this technique the total time required for imaging is reduced and consequently the physical and mental burden of the patient is also reduced. Furthermore, the number of patients who can receive this test at any facility can be increased. This position may also be applicable in myocardial scintigraphy using some other tracers.

[Tumor microembolism presenting as characteristic patterns of pulmonary perfusion on lung scanning: a case report].

A 55-year-old man presented with tumor microembolism manifesting as characteristic patterns of pulmonary perfusion on lung scanning. He had a 2-week history of dyspnea and general fatigue. Echocardiography demonstrated right ventricular enlargement. Computed tomography of the chest was normal. Lung perfusion imaging showed multiple subsegmental peripheral defects, which were characteristic of tumor embolism. Ultrasonography and computed tomography of the abdomen revealed multiple enlargement of the lymph nodes. Upper gastrointestinal panendoscopy showed gastric cancer. At 10 days after admission, he suffered cardiac arrest and died despite resuscitative efforts. Histological examination revealed pulmonary arterial obstruction with tumor cells, and poorly differentiated adenocarcinoma in the stomach and lymph nodes. This case emphasizes the need to include tumor microembolism in the differential diagnosis of dyspnea, even if there is no evidence of an underlying malignant tumor.