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.

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.

Clinical Features of Heart Failure in Patients With Hypertrophic Cardiomyopathy in a Regional Japanese Cohort　- Results From the Kochi RYOMA Study.

BACKGROUND: The clinical features of heart failure (HF) in patients with hypertrophic cardiomyopathy (HCM) in Japan have not been fully elucidated.Methods and Results: In 293 patients with HCM (median age at registration, 65 (57-72) years) in a prospective cardiomyopathy registration network in Kochi Prefecture (Kochi RYOMA study), HF events (HF death or hospitalization for HF) occurred in 35 patients (11.9%) (median age, 76 (69-80) years), including 11 HF deaths during a median follow-up of 6.1 years. The 5-year HF events rate was 9.6%. Atrial fibrillation, low percentage of fractional shortening, and high B-type natriuretic peptide level at registration were predictors of HF events. The combination of these 3 factors had a relatively high positive predictive value (55%) for HF events and none of them had a high negative predictive value (99%). There were 4 types of HF profile: left ventricular (LV) systolic dysfunction (40%), severe LV diastolic dysfunction (34%), LV outflow tract obstruction (LVOTO) (20%), and primary mitral regurgitation (MR) (6%). HF deaths occurred in patients with LV systolic dysfunction or LV diastolic dysfunction, but none of patients with LVOTO or primary MR due to additional invasive therapies. CONCLUSIONS: In a Japanese HCM cohort, HF was an important complication, requiring careful follow-up and appropriate treatment.

A Validation Study of the Mayo Clinic Phenotype-Based Genetic Test Prediction Score for Japanese Patients With Hypertrophic Cardiomyopathy.

BACKGROUND: Hypertrophic cardiomyopathy (HCM) is a primary myocardial disorder with an autosomal-dominant disorder mainly caused by mutations in sarcomere genes. Recently, a phenotype-based genetic test prediction score for patients with HCM was introduced by Mayo Clinic. The genotype score was derived on the basis of the predictive effect of 6 clinical markers, and the total score was shown to be correlated with the yield of genetic testing. However, it has not been determined whether this prediction model is useful in Japanese HCM patients.Methods and Results:The utility of the Mayo Clinic HCM genotype predictor score in 209 Japanese unrelated patients with a clinical diagnosis of HCM who had undergone genetic testing for 6 sarcomere genes was assessed. Overall, 55 patients (26%) had pathogenic or likely pathogenic variants (60% being genotype-positive in familial cases). We divided the patients into 6 groups (groups with scores of from -1 to 5) according to the prediction score. The yields of genetic testing in the groups with scores of -1, 0, 1, 2, 3, 4, and 5 were 8%, 16%, 24%, 48%, 50%, 100%, and 89%, respectively, with an incremental increase in yield between each of the score subgroups (P<0.001). CONCLUSIONS: The Mayo Clinic HCM genotype predictor score is useful for predicting a positive genetic test result in Japanese HCM Patients.

What we believed to be a right upper pulmonary vein by transthoracic echocardiography is actually a right lower pulmonary vein.

BACKGROUND: Current guidelines recommend that pulmonary vein (PV) velocity should be recorded by using the right upper pulmonary vein (RUPV) during transthoracic echocardiography (TTE) evaluation of left ventricular diastolic function. However, it is uncertain whether the PV displayed during TTE is truly measuring the upper PV. This study aimed to identify the actual site of each PV that is usually detected during TTE. METHODS: We retrospectively studied 105 patients who underwent cardiac computed tomography (CT) and TTE, reconstructed images three-dimensionally, and measured the angles between each PV and the left ventricle (LV) that would correspond to the Doppler incident angle of the apical four-chamber view on TTE. We also performed TTE during catheter ablation to confirm the exact site of the PV. RESULTS: Apical four-chamber views on TTE revealed that one certain PV was detectable on the right side of the vertebra. CT scans revealed that the median angle of the axes between the LV and right lower pulmonary vein (RLPV) was smaller than that of RUPV {32.1˚ [interquartile range (IQR): 21.7˚-42.1˚] vs. 62.5˚ (IQR: 51.6˚-70.6˚), P < .001}. During catheter ablation for treatment of atrial fibrillation, in the most well-displayed PV on TTE, we detected the ablation catheter placed in the RLPV. CONCLUSIONS: The most well-displayed PV in an apical four-chamber view by TTE was not the RUPV but the RLPV which showed the smallest angle of incidence toward the LV apex. The RLPV is suitable for evaluation of PV velocity to assess LV diastolic function.

Lifelong Clinical Impact of the Presence of Sarcomere Gene Mutation in Japanese Patients With Hypertrophic Cardiomyopathy.

BACKGROUND: Hypertrophic cardiomyopathy (HCM) is mainly caused by mutations in sarcomere genes. Regarding the clinical implications of genetic information, little is known about the lifelong clinical effect of sarcomere mutations in Japanese HCM patients.Methods and Results:We studied 211 consecutive Japanese patients with HCM who had agreed to genetic testing between 2003 and 2013. Genetic analyses were performed by direct DNA sequencing in the 6 common sarcomere genes (MYH7,MYBPC3,TNNT2,TNNI3,TPM1,ACTC). Through variant filtering, 21 mutations were identified in 67 patients. After excluding 8 patients whose variants were determined as having uncertain significance, finally 203 patients (130 men, age at study entry: 61.8±14.1 years) were investigated for clinical presentation and course. At the time of study entry, patients with mutations were younger, had more frequent non-sustained ventricular tachycardia, had greater interventricular wall thickness, were more frequently in the dilated phase and less frequently had apical HCM. Through their lifetimes, a total of 98 HCM-related morbid events occurred in 72 patients. Survival analysis revealed that patients with sarcomere gene mutations experienced those morbid events significantly more frequently, and this tendency was more prominent for lethal arrhythmic events. CONCLUSIONS: In our HCM cohort, patients with sarcomere gene mutations had poorer lifelong outcome. Genetic information is considered important for better management of HCM.

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.

Clinical Profile of Thromboembolic Events in Patients With Hypertrophic Cardiomyopathy in a Regional Japanese Cohort　- Results From Kochi RYOMA Study.

BACKGROUND: There is limited information about the clinical profiles of patients with hypertrophic cardiomyopathy (HCM) and thromboembolic events in a community-based Japanese patient cohort.Methods and Results:In 2004, we established a cardiomyopathy registration network in Kochi Prefecture that comprised 9 hospitals, and finally 293 patients with HCM were followed. The mean age at registration was 63±14 years, and 197 patients (67%) were men. At registration, 86 patients (29%) had documented atrial fibrillation (AF). During a mean follow-up period of 6.1±3.2 years, thromboembolic events, including 3 embolic stroke deaths, occurred in 23 patients. The 5-year embolic event rate was 5.5%. During the follow-up period, an additional 31 patients (11%) had documentation of AF and finally a total of 117 patients (40%) developed AF. The 5-year embolic event rate in those 117 patients with AF was 12.3%. Of the 23 patients with embolic events, 12 had AF prior to the embolic complications and another 6 had documented AF after thromboembolism. AF was not detected in the remaining 5 patients. The CHADS2score did not correlate with the embolic outcome in HCM patients. CONCLUSIONS: In this community-based registry, thromboembolic events were not rare in patients with HCM. All patients with HCM in whom AF develops should be given anticoagulation therapy regardless of their CHADS2score.

Patients' Characteristics and Clinical Course of Hypertrophic Cardiomyopathy in a Regional Japanese Cohort　- Results From Kochi RYOMA Study.

BACKGROUND: There have been few studies on the clinical course of hypertrophic cardiomyopathy (HCM) in a community-based patient cohort in Japan.Methods and Results:In 2004, we established a cardiomyopathy registration network in Kochi Prefecture (the Kochi RYOMA study) that consisted of 9 hospitals, and finally, 293 patients with HCM were followed. The ages at registration and at diagnosis were 63±14 and 56±16 years, respectively, and 197 patients (67%) were male. HCM-related deaths occurred in 23 patients during a mean follow-up period of 6.1±3.2 years. The HCM-related 5-year survival rate was 94%. In addition, a total of 77 cardiovascular events that were clinically severe occurred in 70 patients, and the HCM-related 5-year event-free rate was 80%. Multivariate Cox proportional hazards model analysis showed that the presence of NYHA class III at registration was a significant predictor of HCM-related deaths and that the presence of atrial fibrillation, lower fractional shortening and presence of left ventricular outflow tract obstruction in addition to NYHA class III were significant predictors of cardiovascular events. CONCLUSIONS: In our unselected registry in an aged Japanese community, HCM mortality was favorable, but one-fifth of the patients commonly suffered from HCM-related adverse cardiovascular events during the 5-year follow-up period. Careful management of HCM patients is needed, particularly for those with the above-mentioned clinical determinants.

Associations between electrocardiographic findings and echocardiographic profiles in patients with hypertrophic cardiomyopathy.

BACKGROUND: The relationships between electrocardiography (ECG) findings and echocardiographic profiles in patients with hypertrophic cardiomyopathy (HCM) are not fully understood. METHODS: One hundred forty patients (mean age: 62.9 ±â€¯15.3 years, 96 men) with HCM were studied. We assessed the associations between ECG findings and echocardiographic findings including maximum left ventricular wall thickness, HCM subtypes and distribution of left ventricular hypertrophy (LVH): the LV was divided into basal, mid, and apical segments by dividing it into thirds along the long axis. RESULTS: In ECG, LVH by voltage criteria, abnormal Q wave, negative T wave, and giant negative T wave (GNT) were observed in 74 (53 %), 30 (21 %), 132 (94 %), and 25 (18 %) of the patients, respectively. In two groups with and without an LVH pattern according to voltage criteria in ECG, there were no significant differences in maximum LV wall thickness, subtype of HCM, and distribution of LVH. Regarding an abnormal Q wave, the proportion of patients with LVH in the basal segment was significantly higher in patients with an abnormal Q wave than in patients without an abnormal Q wave (87 % vs 61 %, p = 0.008). An abnormal Q wave was not observed in patients with LVH confined to the apex. Patients with a GNT included patients with LVH located at only the apex (apical HCM), LVH from the mid segment to apex, and LVH from the base to apex. No GNT was found in patients with hypertrophy located in the upper region from the base to mid segment of the LV. CONCLUSIONS: In patients with HCM, there was no significant correlation between the presence of LVH by voltage criteria in ECG and echocardiographic findings. An abnormal Q wave was associated with disproportionate hypertrophy of the basal wall and a GNT reflected the presence of LVH in the apical segment.

Transient decrease in the depth of the negative T wave in apical hypertrophic cardiomyopathy is a sign of left anterior descending artery stenosis: a case series.

Background: In patients with apical hypertrophic cardiomyopathy (HCM), electrocardiography (ECG) often shows left ventricular hypertrophy (LVH) and a negative T wave. A negative T wave often disappears over time due to degeneration of the apical myocardium. However, there are limited reports on the temporary change of a negative T wave in patients with HCM. Case summary: We report three apical HCM patients with LVH and T wave inversion on their previous ECG who showed a temporary decrease in the depth of the negative T wave. All of them had significant stenosis of coronary arteries including the left anterior descending artery (LAD). After revascularization for the LAD lesion, their ECG returned to the previous depth of the negative T wave. Discussion: The cases presented here suggested that a temporary decrease in the depth of the negative T wave in apical HCM patients may be one of the signs of ischaemia in the anterior-apical region caused by severe stenosis of the LAD.

High-sensitivity Cardiac Troponin T Is a Useful Biomarker for Predicting the Prognosis of Patients with Systemic Sarcoidosis Regardless of Cardiac Involvement.

Objective Cardiac involvement defines the prognosis for patients with systemic sarcoidosis. Despite advancements in techniques for diagnosing cardiac lesions, there remains significant room for improvement in cardiac screening and prognostic prediction. The present study therefore assessed the prognostic factors associated with cardiovascular events in patients with sarcoidosis. Methods We retrospectively studied 132 patients with systemic sarcoidosis and evaluated the clinical data obtained between 2009 and 2022. A Kaplan-Meier survival analysis and Cox proportional hazards models were used to evaluate the associations between cardiovascular events and prognostic factors. Results The median age of the patients at the diagnosis was 64.0 (55.0-71.0) years old. During a mean follow-up period of 6.3±3.2 years, 28 patients suffered from cardiovascular events. Patients in the event group had more severe heart failure symptoms, more frequent ventricular tachycardia, higher serum high-sensitivity cardiac troponin T (hs-cTnT) values [0.025 (0.017-0.044) vs. 0.011 (0.007-0.019) ng/mL, p<0.001], and lower left ventricular ejection fraction values than those in the non-event group. These trends were observed even if the patients were not diagnosed with cardiac involvement at the time of enrollment. A multivariate analysis revealed that hs-cTnT was an independent biomarker for the prediction of cardiac events (hs-cTnT >0.014 ng/mL: HR: 7.31, 95% confidence interval: 2.20 to 24.28, p<0.001). Conclusion Hs-cTnT is a useful biomarker for predicting cardiovascular events in patients with sarcoidosis, even if cardiac involvement is not detected at the initial evaluation.

Very long-term prognosis in patients with hypertrophic cardiomyopathy: a longitudinal study with a period of 20 years.

AIMS: We aim to clarify the prognosis on patients with hypertrophic cardiomyopathy (HCM) for a follow-up period of more than 10 years. METHODS AND RESULTS: We retrospectively analysed 102 consecutive patients with HCM diagnosed by 31 December 2000. Complete and detailed clinical records were obtained for 93 (91%) of the 102 patients. Sixty-three (68%) of the 93 patients were men, and the mean age of the patients at the initial evaluation was 51.5 ± 13.0 years. During the mean follow-up period of 19.6 ± 8.1 years (median 20.1 years), HCM-related deaths occurred in 20 patients (21% [1.1%/year]). HCM-related adverse events (including HCM-related deaths and nonfatal HCM-related events: hospitalization for heart failure, embolic stroke admission, and sustained ventricular tachycardia with haemodynamic instability or appropriate implantable cardioverter-defibrillator discharge) occurred in 45 patients (48%). The first HCM-related adverse events occurred in approximately 20% of the patients in every decade, the first decade to the third decade, from the initial evaluation. Forty-seven patients (51%) had documentation of atrial fibrillation at the last follow-up. There were seven patients in the end-stage HCM group at the initial evaluation, and 22 patients (24%) had progression to end-stage HCM during the follow-up period. CONCLUSIONS: In our cohort of patients, HCM-related mortality was relatively favourable. However, approximately half of the patients suffered from HCM-related adverse events during the follow-up period of 20 years. It is important for HCM patients to be carefully followed up over the long-term because HCM is a lifelong disease.

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.

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.

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.

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.

Clinical significance of new-onset atrial fibrillation in patients with hypertrophic cardiomyopathy.

AIMS: There is limited information about the clinical significance of atrial fibrillation (AF), particularly new-onset AF, in patients with hypertrophic cardiomyopathy (HCM) in a community-based patient cohort. This study was carried out to clarify the prevalence and prognostic impact of AF in Japanese HCM patients. METHODS AND RESULTS: In 2004, we established a cardiomyopathy registration network in Kochi Prefecture as a prospective study, and finally, 293 patients with HCM were followed. In the patients' cohort, we recently reported the clinical outcomes including mortality and HCM-related morbid events. HCM-related adverse cardiovascular events were defined in the following: (i) sudden cardiac death (SCD)-relevant events including SCD, spontaneous sustained ventricular tachycardia, and appropriate implantable cardioverter defibrillator discharge; (ii) heart failure (HF) events with the composite of HF death and hospitalization for HF; and (iii) embolic events included embolic stroke-related death and admission for embolic events. In the present study, we focused on AF and conducted a detailed investigation. At registration, the mean age of the patients was 63 ± 14 years, and 86 patients (29%) had documented AF including paroxysmal AF. Patients with AF at registration were characterized by worse clinical profiles including more advanced age, more symptomatic, more advanced left ventricular, and left atrial remodelling at registration. During a mean follow-up period of 6.1 ± 3.2 years, a total of 77 HCM-related adverse events occurred, and the presence of AF at registration was associated with an increased risk of HCM-related adverse events, particularly heart failure events. During the follow-up period, an additional 31 patients (11%) had documentation of AF for the first time, defined as new-onset AF, with an annual incidence of approximately 1.8%, and finally, a total of 117 patients (40%) showed AF. The presence of palpitation and enlarged left atrial diameter, particularly left atrial diameter ≥50 mm, at registration were significant predictors of new-onset AF. Importantly, the incidence of overall HCM-related adverse events was further higher in patients with new-onset AF observed from AF onset than in patients with AF at registration. CONCLUSIONS: In our HCM registry in an aged Japanese community, a significant proportion developed AF. The presence of AF, particularly new-onset AF, was associated with increased incidence of HCM-related events. AF may not be just a marker of disease stage but an important trigger of adverse events.

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.