Importance of fourth heart sound and preserved left atrial function in wild-type transthyretin amyloidosis.

AIMS: A fourth heart sound (S4) was reported to be almost never present in patients with amyloid light-chain cardiomyopathy. There have been no reports on S4 in patients with wild-type transthyretin amyloid cardiomyopathy (ATTRwt-CM). This study aimed to clarify the clinical implications of S4 in patients with ATTRwt-CM. METHODS AND RESULTS: Seventy-six patients with ATTRwt-CM (mean age: 80.4 ± 5.4 years, 68 males) who had undergone phonocardiography (PCG) were retrospectively assessed. We measured S4 amplitude on digitally recorded PCG. S4 was considered to be present when its amplitude was 1.0 mm or greater on the PCG. Distinct S4 was defined as S4 with an amplitude of 2.0 mm or greater, which is usually recognizable by auscultation. According to the rhythm and presence or absence of S4, the patients were divided into three groups, namely, sinus rhythm (SR) with S4, SR without S4, and non-SR. Non-SR consisted of atrial fibrillation, atrial flutter, and atrial tachycardia. Thirty-six patients were in SR and the remaining 40 patients were in non-SR. In the 36 patients in SR, S4 was shown by PCG to be present in 17 patients (47%), and distinct S4 was recognized in 7 patients (19%) by auscultation. In patients who were in SR, those with S4 had higher systolic blood pressure (124 ± 15 vs. 99 ± 8 mmHg, P < 0.001), lower level of plasma B-type natriuretic peptide (308 [interquartile range (IQR): 165, 354] vs. 508 [389, 765] pg/mL, P = 0.034) and lower level of high-sensitivity cardiac troponin T (0.068 [0.046, 0.089] vs. 0.109 [0.063, 0.148] ng/mL, P = 0.042) than those without S4. There was no significant difference in left atrium (LA) volume index or LA reservoir strain between patients with S4 and without S4. Patients with S4 had more preserved LA systolic function than those without S4 (peak atrial filling velocity: 53 ± 25 vs. 34 ± 9 cm/s, P = 0.033; LA contractile strain: 4.1 ± 2.1 vs. 1.6 ± 2.0%, P = 0.012). Patients in SR without S4 had worse short-term prognosis compared with the other two groups (generalized Wilcoxon test, P = 0.033). CONCLUSIONS: S4 was present in 47% of the patients in SR with ATTRwt-CM. Patients in SR without S4 had more impaired LA systolic function than those in SR with S4. The absence of S4 portends a poor short-term prognosis in patients with ATTRwt-CM.

Clinical features of quadricuspid aortic valve in middle-aged and elderly patients: Insights from a regional study.

BACKGROUND: Quadricuspid aortic valve (QAV) is a rare congenital disease. The clinical characteristics of this disease remain unclear except for those in relatively young patients reported from tertiary referral hospitals. The aim of this study was to determine the clinical features of QAV in a regional population. METHODS AND RESULTS: We retrospectively investigated 25 340 consecutive patients over middle age (median age, 73 (IQR 65-80) years; range, 45-102 years) who underwent transthoracic echocardiography (TTE) at our institute during the period from April 2008 to December 2023. Eight (0.032%) of the patients (median age, 65 years; range, 47-91 years) were diagnosed with QAV. Six patients suffered from aortic regurgitation (AR), and one patient had mild aortic stenosis at the time of QAV diagnosis. Two patients who had severe AR at referral underwent aortic valve surgery. The severity of AR in the other patients was moderate or less. During a median follow-up period of 27 months (range, 1-171 months), none of the patients other than above two patients had cardiac events. One patient died from a non-cardiac cause at 94 years of age. CONCLUSIONS: Patients diagnosed with QAV after middle age, who do not exhibit severe valve insufficiency at the time of diagnosis, may not experience worse clinical outcomes. However, further research is required for a better understanding of the long-term outcomes.

A retrospective investigation to establish new screening approach for the detection of patients at high risk of Fabry disease in male left ventricular hypertrophy patients.

BACKGROUND: The prevalence of Fabry disease (FD) in male patients with left ventricular hypertrophy (LVH) is about 1%. From the perspective of performing more efficient screening with measurement of α-galactosidase (α-Gal) activity, it is important to raise the pretest probability. METHODS: We retrospectively investigated the prevalence of FD in 701 male patients with LVH who already had been screened by measurement of α-Gal activity in eight hospitals. From the viewpoint of enzymatic screening, we validated previously reported clinical features of FD including the electrocardiographic and echocardiographic characteristics with comparing each clinical determinant between patients with FD and non-FD patients. We finally aimed to establish a new screening approach for the detection of patients at high risk of FD. RESULTS: There were five FD patients (0.7%) in the 701 male patients with LVH. Those five patients with FD all had the cardiac variant type and age at detection of LVH was ≥35 years in all patients. In LVH patients with LV ejection fraction (EF) ≥ 50%, Pend-Q interval < 40 msec, SV1 + RV5 > 4.0 mV, and diffuse LVH were important determinants of FD. In LVH patients with LVEF < 50%, asymmetric septal hypertrophy and posterior wall motion abnormality seemed to be associated with FD. CONCLUSIONS: In our retrospective study, the prevalence of FD in male patients with LVH was found to be 0.7%. We established the efficient combinations of clinical determinants using age at detection of LVH, Pend-Q interval, high voltage, and LVH pattern in an echocardiogram.

Early Experience of Tafamidis Treatment in Japanese Patients With Wild-Type Transthyretin Cardiac Amyloidosis From the Kochi Amyloidosis Cohort.

BACKGROUND: Tafamidis has emerged as an effective treatment for patients with wild-type transthyretin cardiac amyloidosis (ATTRwt CA). The early experience of tafamidis treatment for Japanese patients with ATTRwt CA is reported here.Methods and Results: Over the past 2 years, in 82 patients with ATTRwt CA (mean age of 81.7±6.0 years), tafamidis treatment was initiated for 38 patients. The remaining 44 patients were not administered tafamidis. The most frequent reason for non-administration of tafamidis was advanced heart failure and the second most reason was the patient's frailty. In patients who received tafamidis treatment, there was no discontinuation of tafamidis due to adverse events, the rate of cardiovascular-related hospitalizations per year was 0.19, and the 1-year survival rate was 92%. In the patients who continued tafamidis for 12-18 months, there was no significant deterioration from baseline for high-sensitivity cardiac troponin T level, plasma B-type natriuretic peptide level, left ventricular ejection fraction, inter-ventricular septum wall thickness, or value of left ventricular longitudinal strain. CONCLUSIONS: Tafamidis treatment was introduced for approximately half of the study patients with ATTRwt CA in real-world practice. Tafamidis is likely to be safe and may maintain the status of disease severity in the short-term in selected Japanese patients with ATTRwt CA. Further research is needed to determine appropriate patient selection for tafamidis treatment and efficacy of tafamidis in the long term.

Wild-Type Transthyretin Amyloidosis in Female Patients　- Consideration of Sex Differences.

Background: With recent advances in non-invasive diagnostic tools, some studies indicate that wild-type transthyretin amyloidosis (ATTRwt) may be more common in females than previously reported. However, the clinical characteristics of female ATTRwt patients have not been determined. Methods and Results: Of the 78 consecutive patients with ATTRwt in our cohort, 14 (17.9 %) were female. Compared with male patients, female ATTRwt patients had smaller left ventricular (LV) wall thicknesses (ventricular septum thickness 12.9 vs. 14.2 mm [P=0.081]; posterior wall thickness 12.7 vs. 13.6 mm [P=0.035]) and a higher LV ejection fraction (EF; mean [±SD] 58.4±8.9% vs. 48.9±11.8%; P=0.006). However, the severity of heart failure (HF), as assessed by HF stage, New York Heart Association functional class and B-type natriuretic peptide concentrations, did not differ between female and male patients. Moreover, LV mass index and relative wall thickness were increased and the stroke volume index was reduced in both female and male patients. In organ biopsies, female patients had a higher sensitivity to transthyretin deposition from abdominal fat than male patients (positive abdominal fat biopsy 80.0 % vs. 26.5%; P=0.016). Conclusions: This study suggests that a relatively large proportion of elderly females have ATTRwt. Female ATTRwt patients had HF symptoms even at the stage of mild LV hypertrophy and preserved EF. Abdominal fat biopsy may be useful to diagnose ATTRwt, especially in female patients with HF.

Tenosynovial and Cardiac Transthyretin Amyloidosis in Japanese Patients Undergoing Carpal Tunnel Release.

Background: Wild-type transthyretin cardiac amyloidosis (ATTRwt-CA) is a life-threatening progressive disease. Recent studies have shown that the detection of transthyretin (TTR) amyloid in tenosynovial tissue may play an important role in the diagnosis of cardiac amyloidosis. The aim of this study was to determine the prevalence of TTR amyloid deposits in surgical tissue of patients undergoing carpal tunnel surgery and to clarify the clinical significance of concomitant cardiac examination with 99 mTc-labeled pyrophosphate (99 mTc-PYP) scintigraphy in those patients with TTR deposition. Methods and Results: We evaluated 79 consecutive patients undergoing carpal tunnel release surgery and biopsy of tenosynovial tissue. The mean (±SD) age of the patients at surgery was 71.6±12.5 years (range 30-95 years); 32 patients (41%) were male. TTR amyloid deposition in tenosynovial tissue was observed in 27 patients (34%). Sixteen of those 27 patients underwent 99 mTc-PYP scintigraphy. Of those 16 patients, 3 (19%) had Grade 2 uptake on 99 mTc-PYP scintigraphy. None of the 3 patients with a diagnosis of ATTRwt-CA had apparent cardiac symptoms and left ventricular wall thickness >13 mm. Conclusions: Concomitant cardiac examination with 99 mTc-PYP scintigraphy in patients who had TTR amyloid deposition in tenosynovial tissue resulted in the identification of 19% of patients with a diagnosis of ATTRwt-CA. This diagnostic approach seems to be useful for the early diagnosis of the disease.

Validation of the Kumamoto criteria for prediction of 99m technetium pyrophosphate scintigraphy positivity as a strategy for diagnosis of transthyretin cardiac amyloidosis: A retrospective cohort study in Kochi.

BACKGROUND: Early diagnosis of transthyretin cardiac amyloidosis (ATTR-CA) is important. The aim of this study was to validate the 'Kumamoto criteria' for prediction of technetium-99m pyrophosphate (99mTc-PYP) scintigraphy positivity. METHODS: One hundred fifty patients (median age: 79.4 years, 117 males) with the possibility of ATTR-CA who underwent 99mTc-PYP scintigraphy were assessed. We divided the patients into 4 groups (groups with score of 0-3) according to the Kumamoto criteria by total points for the following 3 factors: high-sensitivity cardiac troponin T (hs-cTnT) ≥0.0308 ng/ml, left ventricle posterior wall thickness ≥13.6 mm, and wide QRS (QRS ≥ 120 ms). RESULTS: Seventy patients (46.7%) were positive for 99mTc-PYP scintigraphy. 99mTc-PYP positivity rates in the groups with score of 0, 1, 2, and 3 were 4%, 39%, 69%, and 89%, respectively. Compared with the original Kumamoto cohort, our patients in the score 1 group showed a relatively high rate of 99mTc-PYP positivity because hs-cTnT as one of the positive factors had high ability to discriminate the disease. The sensitivity and negative predictive value of hs-cTnT ≥0.0308 ng/ml for 99mTc-PYP positivity were 97.1% and 93.9%. CONCLUSIONS: In the Kochi validation cohort, the Kumamoto criteria were useful for predicting 99mTc-PYP positivity. However, patients in the score 1 group should be assessed cautiously for the possibility of ATTR-CA if the hs-cTnT value is high.

Cardiac manifestations and effects of enzyme replacement therapy for over 10 years in adults with the attenuated form of mucopolysaccharidosis type I.

BACKGROUND: Mucopolysaccharidosis type I (MPS I) is a rare autosomal recessive disease caused by a deficiency of the lysosomal enzyme α-L-iduronidase. Cardiac manifestations such as valvular heart disease are associated with poor prognosis. There have been only a few reports on the effect of long-term enzyme replacement therapy (ERT) for adult patients with the attenuated form of MPS I (Scheie syndrome) and cardiac involvement. METHODS: We retrospectively reviewed four adult patients of Scheie syndrome for which ERT was performed in our hospital. We investigated the findings of electrocardiography and echocardiography for the four patients performed before and 10 years after the initiation of ERT to evaluate the efficacy for ERT in Scheie syndrome. RESULTS: The ages of the patients at the initiation of ERT ranged from 26 to 46 years. The mean follow-up period was 129 months (121 to 134 months). Two patients underwent valve replacement surgery before the initiation of ERT. One patient had gradual progressive aortic valve stenosis and mitral valve stenosis during the course of ERT, and double valve replacement was finally performed. The patient who had started ERT at the youngest age did not develop significant cardiovascular disease. Regarding clinical courses with ERT for a period of 10 years, all four patients survived and they showed relatively stable cardiac conditions although two patients developed sick sinus syndrome after the valvular surgery. CONCLUSIONS: Valvular disease in patients with Scheie syndrome occur at a young age. In a limited number of the four patients, ERT might contribute the stability of cardiac condition.

Preoperative Clinical Features and High Pulmonary Wedge Pressure with a Discordant Pattern as Prognostic Factor in Hemodialysis Patients with Severe Aortic Valve Stenosis.

Hemodialysis (HD) is one of the important risks for the development of cardiovascular disease, including aortic valve stenosis (AS). Although aortic valve replacement (AVR) is a beneficial treatment for AS, HD patients are known to show a high rate of mortality after AVR than non-HD patients.We retrospectively studied 109 patients who underwent AVR for severe AS, 18 of which were HD patients. Survival rate after AVR, preoperative clinical data, and surgical procedure were investigated.In preoperative clinical features, left ventricular end-diastolic diameter was larger, intraventricular septum thickness (IVST) was thicker, left ventricular mass index (LVMI) was higher, left ventricular ejection fraction was lower, E/e' was higher, and pulmonary arterial wedge pressure (PAWP) was higher in the HD group than in the non-HD group. During a follow-up period of 3.2 ± 2.3 years after AVR, patients receiving HD had a worse prognosis than those without HD treatment: the 3-year survival rate after surgery in the HD group was 36.2% and that in the non-HD group was 84.9%. With regard to prognostic factors in the whole cohort, significant differences were found in IVST, LVMI, E/e', PAWP, and HD. In patients receiving HD, abnormally high PAWP for their right atrial pressure (RAP) was observed, suggesting that PAWP and RAP were discordant, and univariate analysis revealed that high PAWP was the only predictor of mortality in HD patients after surgery.Preoperative PAWP with a discordant pattern in HD patients might be an important prognostic predictor after AVR.

A case report of an uncommon presentation of 99mtechnetium pyrophosphate scintigraphy in transthyretin cardiac amyloidosis: A potential diagnostic pitfall, pseudo-positive or pseudo-negative?

99mTechnetium pyrophosphate (99mTc-PYP) scintigraphy has shown utility for diagnosis of transthyretin (ATTR) cardiac amyloidosis with a high sensitivity and specificity. However, in clinical practice, a protocol and a method of analysis of this modality are not yet unified. We present a case of ATTR cardiac amyloidosis showing a positive cardiac uptake in planar imaging but no myocardial uptake in single-photon emission computed tomography/computed tomography (SPECT/CT) fusion imaging on 99mTc-PYP scintigraphy. We considered this tracer accumulation in the cardiac blood pool to be an inconclusive study. In this report, we focus on an inconclusive study case as a potential pitfall of 99mTc-PYP scintigraphy and discuss the interpretation of 99mTc-PYP scintigraphy findings with using both planar and SPECT/CT imaging for improvement of diagnostic accuracy for ATTR cardiac amyloidosis. .

Myocardial infarction-related left ventricular rupture with the tear across the ventricular wall detected on echocardiography.

A 79-year-old man underwent repair surgery for a left ventricular free wall rupture after an acute myocardial infarction. The surgical procedure followed for ventricular rupture was according to the rupture type. The patient showed slowly oozing bleeding through small holes. Epicardial echocardiography detected the color signals that crossed the left ventricular wall. Two channels were directly connected from the ventricular cavity to the epicardial hole. Although the bleeding hole was covered with collagen hemostats using a sutureless technique, the bleeding remained, probably because of the pressure exerted by the left ventricle on the channels connected to the epicardial hole. The suture closure technique might be better in cases with channels across the ventricular wall, as detected on echocardiography. We describe a case of left ventricular rupture followed by acute myocardial infarction in which the channel connected to the ruptured ventricular tear was detected on epicardial echocardiography.

Integrated diagnostic approach to wild-type transthyretin cardiac amyloidosis with the use of high-sensitivity cardiac troponin T measurement and 99mTc-pyrophosphate scintigraphy.

BACKGROUND: The diagnosis of wild-type transthyretin cardiac amyloidosis (ATTRwt) is frequently missed or delayed because of the limited specificity of manifestations. We investigated the utility of combined assessment of high-sensitivity cardiac troponin T (hs-cTnT) measurement and 99mTc-pyrophosphate (99mTc-PYP) scintigraphy as diagnostic modalities in ATTRwt. METHODS: We divided 39 consecutive ATTRwt patients into two groups depending on whether serum hs-cTnT measurement and 99mTc-PYP scintigraphy were adopted as diagnostic tools: group A patients (n=8) who were diagnosed before the introduction of these two tools and group B patients (n=31) who were diagnosed after the introduction of the two tools. We retrospectively evaluated the two groups. RESULTS: Diagnostic yield was higher in group B than in group A (1.2 vs. 5.4 ATTRwt patients per 1000 hospitalized patients, p<0.01). Group B patients presented broad clinical features that were different from group A patients with classical characteristics. Atrial fibrillation was more frequent (12.5% vs. 58.1%, p=0.044) and inter-ventricular septum (IVS) thickness and relative wall thickness (RWT) were smaller in group B patients than in group A patients (IVS thickness: 16.1±2.4mm vs. 13.6±2.8mm, p=0.023; RWT: 0.71±0.11mm vs. 0.58±0.13mm, p=0.014). Furthermore, left ventricular hypertrophy (LVH) (IVS thickness ≥15mm) was more frequent in patients in group A than in patients in group B (87.5% vs. 33.3%, p=0.013). No significant difference was observed in the mean value of left ventricular ejection fraction (LVEF), whereas the dispersion of LVEF was high in group B (interquartile range: 47-58% vs. 39-57%). CONCLUSIONS: An integrated approach consisting of hs-cTnT measurement and 99mTc-PYP scintigraphy significantly increases the diagnostic rate of ATTRwt and has a high potential to identify ATTRwt patients with a variety of clinical phenotypes.

Beneficial Effect of Pimobendan for Severe Heart Failure Due to Transthyretin Cardiac Amyloidosis.

Objective Transthyretin amyloidosis, particularly wild-type transthyretin amyloid cardiomyopathy (ATTRwt), has been recognized as an important cause of morbidity and mortality in the aging population. However, it is difficult to manage heart failure itself in patients with cardiac amyloidosis. Methods We herein report the management of heart failure in an elderly patient with severe heart failure due to ATTRwt. We also review the clinical situation in an additional seven patients with cardiac amyloidosis who were administered pimobendan in our hospital. Results We treated a 71-year-old man with refractory heart failure due to ATTRwt. He was expected to be dependent on dobutamine infusion. We administered pimobendan and successfully improved his symptoms and hemodynamic status to allow his discharge from the hospital. An additional retrospective investigation observed that there were eight patients with ATTR amyloidosis who were administered pimobendan. Although all of the patients at the time of administration of pimobendan were NYHA class III or IV with repeated hospitalization for heart failure, pimobendan seemed to be effective for improving symptoms and enabling patients to be discharged and receive outpatient medical care. Furthermore, focusing on the changes in some biomarkers, we found that the brain natriuretic peptide and estimated glomerular filtration rate values improved after the administration of pimobendan in 5 consecutive patients for whom data were available without additional treatment (p=0.018 and 0.051, respectively). Conclusion In clinical practice, pimobendan seems to have beneficial effects in heart failure management for improving physical activities and the quality of life in patients with transthyretin cardiac amyloidosis.

Prediction of Medium-Term Mortality in Japanese Patients With Wild-Type Transthyretin Amyloidosis.

Background: The prognostic factors in Japanese patients with wild-type transthyretin amyloidosis (ATTRwt) have not been elucidated. Methods and Results: In this study we retrospectively analyzed the clinical characteristics and outcomes of 47 patients with ATTRwt (mean (±SD) age at diagnosis 80.3±4.6 years; 41 males). Fifteen patients died within 2 years of their diagnosis. Receiver operating characteristic and Kaplan-Meier analyses revealed that the best predictors of 2-year mortality were low serum albumin (≤3.75 g/dL), elevated high-sensitivity cardiac troponin T (hs-cTnT; >0.086 ng/mL), and reduced left ventricular ejection fraction (LVEF; <50%). According to the total number of these 3 risk factors, patients were stratified into 4 subgroups: low risk (no risk factors; n=15), intermediate-low risk (1 risk factor; n=15), intermediate-high risk (2 risk factors; n=7), and high risk (3 risk factors; n=10). The estimated 2-year survival rate of patients classified as low risk, intermediate-low risk, intermediate-high risk, and high risk was 93%, 80%, 83%, and 11%, respectively (P<0.001). Conclusions: Low serum albumin, elevated hs-cTnT, and reduced LVEF are associated with a worse prognosis in Japanese patients with ATTRwt. The combination of these factors may be useful for predicting medium-term mortality in patients with ATTRwt.

Reconsideration of the cut-off value of angiotensin-converting enzyme for screening of sarcoidosis in Japanese patients.

BACKGROUND: In clinical practice, we frequently experience patients with sarcoidosis who show relatively high but normal values of angiotensin-converting enzyme (ACE). The objective of this study was to reconsider the cut-off value of ACE. METHODS: We studied 79 Japanese patients who were diagnosed as having sarcoidosis at our hospital. We excluded patients who had taken steroids or ACE inhibitors and patients with renal impairment. We respectively evaluated ACE values and performed receiver operating characteristic (ROC) analysis from a comparison with data for 299 normal Japanese subjects who showed ACE values in the current Japanese standard normal range (7.0-25.0IU/L). RESULTS: Patients with sarcoidosis had higher ACE values than those in normal subjects (ACE: 20.3IU/L [IQR, 16.0-24.4] vs. 15.4IU/L [IQR, 12.8-18.5]; p<0.001). However, 62 patients (78.5%) had normal ACE levels (cut-off value <25.0IU/L), and the sensitivity of ACE level for detecting sarcoidosis was only 21.5%. From ROC analysis, a cut-off value of 17.7IU/L (AUC: 0.727, 95% CI: 0.660-0.794, p<0.001) was the best cut-off value for detecting sarcoidosis and sensitivity increased to 67.0%. CONCLUSIONS: The possibility of sarcoidosis cannot be ruled out by using the current Japanese standard value even in patients who have normal ACE levels. Careful interpretation of this biomarker is needed.

Primary Cardiac Lymphoma: A Lesson Learned from an Unsuccessful Experience.

A 79-year-old man was admitted because of complete heart block. Echocardiograms showed an abnormal mass adjacent to the sinus of Valsalva. Subsequent surgical resection was not successful. Despite chemotherapy, the patient died from multiple organ failure. It is important to recognize that approximately 80% of cases of cardiac lymphoma are diffuse large B-cell lymphoma, which is the only malignant neoplasm that may respond well to chemotherapy with rituximab. In order to save patients' lives, the early implementation of chemotherapy with rituximab is critical and should be considered as a therapeutic diagnostic option in select patients.

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.

Subacute effusive-constrictive pericarditis: Echocardiography-guided diagnosis and management.

A 49-year-old man presented with flu-like symptoms of two weeks. Electrocardiogram showed diffuse ST elevation. Blood samples revealed severe renal failure and moderate inflammatory results. Echocardiogram showed large pericardial effusion, dilated inferior vena cava, but no right ventricular collapse. The patient underwent hemodialysis, after which he developed clinical signs of cardiac tamponade with echocardiographic features of collapse of the right ventricle. Pericardial drainage was then performed revealing purulent fluid of 800 ml. Streptococcus agalactiae was found in the cultures of urine, blood, and pericardial fluid. Despite removal of the pericardial fluid, echocardiogram failed to show any improvement in dilated inferior vena cava and estimated right atrial pressure remained elevated. Thus, a diagnosis of subacute effusive-constrictive pericarditis was made. Following antibiotic treatment for purulent pericarditis, early pericardiectomy was performed under transesophageal echocardiographic monitoring which successfully guided surgeons to careful removal of thick and adhesive visceral pericardium as well as an additional Waffle procedure resulting in significant clinical and hemodynamic improvement. Echo-guided approach is most practical in establishing the diagnosis of effusive-constrictive pericarditis and also most helpful in obtaining successful surgical results. .

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.