Prevalence and clinical features of Fabry disease in Japanese male patients with diagnosis of hypertrophic cardiomyopathy.

BACKGROUND: The prevalence of Fabry disease (FD) in Japanese patients presenting with unexplained left ventricular hypertrophy (LVH) has remained unclear. METHODS: We measured plasma α-galactosidase A activity in 177 men with a diagnosis of hypertrophic cardiomyopathy (HCM) (maximum LV wall thickness ≥15mm). RESULTS: Two patients (1.1%) showed very low α-galactosidase A activity [0.0 and 0.3nmol/hr/ml (normal range: 3.6-17.6nmol/hr/ml)], and a clinical diagnosis of cardiac variant of FD was finally made. One patient was a 55-year-old man who came to our hospital because of abnormal results of electrocardiography and showed concentric LVH in echocardiography. A missense mutation, R112L, was identified. The other was a 74-year-old man who had been diagnosed with HCM at the age of 60 years in another hospital and was referred for evaluation of repeated hospitalization for heart failure. Although echocardiography revealed asymmetric septal hypertrophy (ASH) with interventricular septal wall thickness of 16mm and posterior wall thickness of 11mm and reduced LV ejection fraction with hypokinetic posterior wall motion, his echocardiographic findings at the initial diagnosis of HCM were not ASH but concentric LVH with normal LV systolic function. A splicing mutation, IVS4+919G>A, was identified. CONCLUSIONS: The prevalence of FD in Japanese male patients with a clinical diagnosis of HCM was found to be 1.1%. These patients showed late onset and concentric LVH at initial presentation.

Metastatic cardiac tumor from urothelial carcinoma detected by transthoracic echocardiography: a case report.

INTRODUCTION: Cardiac metastasis of urothelial carcinoma is a very rare but clinically important complication. Most cardiac metastases are asymptomatic; symptoms from cardiac metastasis were seen in advanced stage and many of these cases were reported to have a poor prognosis. So it is important to find asymptomatic cardiac metastasis and to start chemotherapy early in order to improve the patient's prognosis. CASE PRESENTATION: A 73-year-old Asian man was referred to our hospital because of a right ventricular tumor. He had a history of left ureteral cancer 9 years ago. In screening echocardiography for paroxysmal atrial fibrillation, a low echogenic tumor was detected in his right ventricular apex, and characteristic ST segment elevation was detected in electrocardiography. An (18)F-fluorodeoxyglucose positron emission tomography revealed abnormal uptake in his right ventricular apex tumor and prostate, and a biopsy of the prostatic tumor showed urothelial carcinoma cells. He received systemic gemcitabine, paclitaxel and cisplatin chemotherapy for the urothelial carcinoma, and the cardiac tumor size was reduced temporarily. Finally, he died of multiple organ failure 16 months after his first admission, but his survival period was relatively longer than previous reports. CONCLUSIONS: We experienced a case of a metastatic cardiac tumor from urothelial carcinoma. We found asymptomatic cardiac metastasis by screening echocardiography and electrocardiography. Our patient received systemic chemotherapy and his survival period was relatively longer than previous reports. Electrocardiography and echocardiography may be useful to find asymptomatic cardiac metastasis of neoplasms.

Differentiation of infiltrative cardiomyopathy from hypertrophic cardiomyopathy using high-sensitivity cardiac troponin T: a case-control study.

BACKGROUND: Because infiltrative cardiomyopathy and hypertrophic cardiomyopathy (HCM) share clinical and hemodynamic features of left ventricular (LV) hypertrophy and abnormal diastolic function, it is often difficult to distinguish these entities. METHODS: We investigated the potential role of high-sensitivity cardiac troponin T (hs-cTnT) for differentiation of infiltrative cardiomyopathy from HCM. RESULTS: The study group consisted of 46 consecutive patients with infiltrative cardiomyopathies or HCM in whom sarcomere protein gene mutations were identified at Kochi Medical School Hospital; of these, there were 11 patients with infiltrative cardiomyopathy (cardiac amyloidosis in 8 patients and Fabry disease in 3 patients) and 35 HCM patients. Serum hs-cTnT level was significantly higher in patients who had infiltrative cardiomyopathy than in those who had HCM (0.083 ± 0.057 ng/ml versus 0.027 ± 0.034 ng/ml, p < 0.001), whereas brain natriuretic peptide levels did not differ between the two groups. In two age-matched the 2 cohorts (patients evaluated at > 40 years at age), hs-cTnT level, maximum LV wall thickness, posterior wall thickness, peak early (E) transmitral filling velocity, peak early diastolic (Ea) velocity of tissue Doppler imaging at the lateral corner and E/Ea ratios at both the septal and lateral corners were significantly different between the two groups. As for diagnostic accuracy to differentiate the two groups by using receiver operating characteristic analysis, hs-cTnT was the highest value of area under the curve (0.939) and E/Ea (lateral) was second highest value (0.914). CONCLUSIONS: Serum hs-cTnT is a helpful diagnostic indicator for accurate differentiation between infiltrative cardiomyopathy and HCM.

A case of cardiac calcified amorphous tumor (cardiac CAT) causing acute embolism in right common iliac artery.

A 68-year-old man was admitted to our hospital for the further examination of intermittent claudication. He had been on continuous ambulatory peritoneal dialysis for 2 years. Screening transthoracic echocardiography (TTE) revealed a club-shaped tumor and a round-shaped tumor attached to mitral annulus calcification (MAC). The club-shaped tumor was swinging and plunged into the left ventricle at diastolic phase. Because of the risk of fatal embolism, we planned early surgical resection of the tumors. However, 13 days after admission, his intermittent claudication was getting worse and some part of the club-shaped tumor had vanished by TTE. Urgent iliac angiography showed that the tumor had embolized the right common iliac artery. Although we tried embolectomy using a Fogarty catheter, it was unsuccessful. We therefore treated the iliac artery stenosis by endovascular therapy and the procedure was successful. Three months later, he suffered from unstable angina and was treated by percutaneous coronary intervention. However, subacute stent thrombosis occurred after one month. After urgent treatment, we decided to treat him by coronary artery bypass graft and surgical resection of the residual tumor on MAC. The operation was performed successfully. Finally, the tumor was diagnosed as cardiac calcified amorphous tumor by its histologic features. .

Cardiac calcified amorphous tumor stuck in the aortic valve that mimicked a chameleon's tongue: report of a case.

A calcified amorphous tumor (CAT) is a rare intracardiac mass that carries a risk of embolism. We herein present the case of a club-shaped CAT that originated from the calcified mitral annulus. Echocardiography indicated a pendular motion of the mass and repeated entrapment by a stenotic aortic valve that was sustained for several beats, mimicking a chameleon's tongue. An emergency operation was performed because of the risk of embolism, as well as potential progression of cardiac failure due to worsening aortic valve stenosis. The histological findings were consistent with the diagnosis of a CAT. This report describes a case of an intracardiac tumor that showed unique motion like a chameleon's tongue.

Inferior acute myocardial infarction due to acute cardiac herniation after right pneumonectomy.

A 69-year-old man underwent right intrapericardial pneumonectomy for lung cancer. After 24 h, he went into shock with inferior acute myocardial infarction. We performed urgent coronary angiography, which revealed total occlusion of the mid-right coronary artery. Intravascular ultrasound showed that the artery seemed to be compressed from the pericardial side. We implanted a coronary stent because the lesion was refractory to balloon dilatation. After the procedure, we performed computed tomography and cardiac herniation was diagnosed. Emergency thoracotomy was performed to return the herniated heart to its normal position. This patient was discharged 38 days after initial surgery.

Smoking cessation after discharge among Japanese patients with established ischemic heart disease: a prospective cohort study.

In this prospective cohort study for Japanese patients with established ischemic heart disease (IHD), the authors investigated the rate of success of smoking cessation 3 months after hospital discharge and its related factors. The subjects included 90 current smokers admitted for IHD. A total of 58 subjects (64%) had quit smoking for 3 months after being discharged. In comparison with subjects with acute myocardial infarction, those with stable angina (SA) showed a significantly lower frequency of smoking cessation (relative risk of resuming smoking (95% confidence interval):2.06 (1.09, 3.92), p=0.036). This relationship remained significant even after controlling for sex, age, and scores of the Fagerstrom Test for Nicotine Dependence (adjusted odds ratio:3.39 (1.01, 11.37), p=0.048). However, it became insignificant when hospital admission followed by emergency medical service (EMS) care was additionally adjusted (adjusted odds ratio:2.48 (0.36, 16.97), p=0.356). The smoking cessation rate in this study was identical to that observed in studies conducted in Japan prior to the recent social changes with regard to tobacco use. SA still appears to be a risk factor for smoking resumption after discharge. Experiencing EMS care would be an intermediate variable in this relationship.