Preclinical diagnosis of wild-type transthyretin amyloid cardiomyopathy in a patient undergoing carpal tunnel release
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SUBMITTER: Nakashima N
PROVIDER: S-EPMC8617475 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:BackgroundWild-type transthyretin amyloid cardiomyopathy (ATTRwt-CM) is receiving increasing attention due to the availability of novel treatment options. Carpal tunnel syndrome (CTS) and lumbar spinal canal stenosis are known early symptoms of transthyretin (TTR) amyloidosis preceding the cardiac involvement and are considered as 'Red Flags' for transthyretin amyloid cardiomyopathy (ATTR-CM).Case summaryA 67-year-old man with a history of lumbar spinal canal stenosis for the last 10 years, right rotator cuff tears for the last 4 years, and bilateral CTS for the last 1 year was scheduled for orthopaedic surgery for lumbar spinal canal stenosis. Investigations revealed severe left ventricular hypertrophy and hypertroponinaemia, which were suggestive of cardiac amyloidosis. Cardiac magnetic resonance imaging and 99mTc-labelled pyrophosphate scintigraphy demonstrated positive findings for ATTR-CM. Transthyretin deposition was found in both the myocardium and the yellow ligamentum excised during surgery. There was no transthyretin mutation on genetic testing. The final diagnosis was ATTRwt-CM.DiscussionTransthyretin deposition in the ligaments or tendons has been observed in a number of patients with CTS, spinal canal stenosis, and rotator cuff tears. These orthopaedic diseases are predictive for the future occurrence of ATTR-CM. In addition, the coexistence of these multiple diseases might strongly predict ATTR-CM. This knowledge needs to be shared with orthopaedicians and cardiologists for the early diagnosis of ATTR-CM.
| S-EPMC7891264 | biostudies-literature
Project description:Transthyretin amyloid cardiomyopathy (ATTR-CM) continues to be an easily overlooked, life-threatening, yet treatable cause of heart failure. Furthermore, its elusive diagnosis leads to late or misdiagnosis. As therapeutic advancements such as tafamidis usher in a promising new era in the management of ATTR-CM, the need for disease awareness and efficient diagnostic evaluation is crucial. With newer inexpensive imaging modalities and techniques, such as longitudinal strain imaging, T1 mapping on cardiac magnetic resonance imaging, and cardiac scintigraphy, the diagnosis of ATTR-CM no longer requires invasive evaluation with tissue biopsy. Here, the authors review current diagnostic tools to help clinicians diagnose ATTR-CM.
| S-EPMC7237598 | biostudies-literature
Project description:ObjectiveTo investigate changes in the median nerve, retinaculum, and carpal tunnel on ultrasound after successful endoscopic carpal tunnel release (ECTR).Materials and methodsThis prospective study involved 37 wrists in 35 patients (5 male, 30 female; mean age ± standard deviation [SD], 56.9 ± 6.7 years) with primary carpal tunnel syndrome (CTS). An in-house developed scoring system (0-3) was used to gauge the clinical improvement after ECTR. Ultrasound was performed before ECTR, and at 1, 3, and 12 months post-ECTR. Changes in the median nerve, flexor retinaculum, and carpal tunnel morphology on ultrasound after ECTR were analyzed. Ultrasound parameters for different clinical improvement groups were compared.ResultsAll patients improved clinically after ECTR. The average clinical improvement score ± SD at 12 months post-ECTR was 2.2 ± 0.7. The median nerve cross-sectional area proximal and distal to the tunnel decreased at all time intervals post-ECTR but remained swollen compared to normal values. Serial changes in the median nerve caliber and retinacular bowing after ECTR were more pronounced at the tunnel outlet than at the tunnel inlet. The flexor retinaculum had reformed in 25 (68%) of 37 wrists after 12 months.ConclusionPostoperative changes in median nerve and retinaculum parameters were most pronounced at the tunnel outlet. Even in patients with clinical improvement after ECTR, nearly all ultrasound parameters remain abnormal at one year post-ECTR. These ultrasound parameters should not necessarily be relied upon to diagnose persistent CTS after ECTR.
| S-EPMC8236373 | biostudies-literature
Project description:AimsWild-type transthyretin cardiac amyloidosis (ATTRwt) is an infiltrative cardiomyopathy with a poor prognosis. The condition is associated with carpal tunnel syndrome (CTS), which often precedes the ATTRwt diagnosis by several years. The aim of the study was (i) to screen patients with a recent history of CTS for ATTRwt using red flags, (ii) to determine whether patients with screened ATTRwt had less advanced disease compared with patients with clinical ATTRwt, and (iii) to assess the sensitivity and specificity of known red flags in ATTRwt.Methods and resultsPatients aged ≥60 years at the time of CTS surgery were invited for screening. Red flags were defined as elevated biomarker levels of N-terminal pro-B-type natriuretic peptide (NT-proBNP) or cardiac troponin, an electrocardiogram pattern associated with ATTRwt, left ventricular hypertrophy (LVH), and impaired longitudinal strain with apical sparring. All patients with a red flag were referred for a diagnostic scintigraphy. Patients with ATTRwt diagnosed by screening were compared with patients with clinical ATTRwt (n = 51) matched by age, gender, and CTS surgery. Among the 120 enrolled subjects (mean age 74.5 years, 90% male), the suspicion of ATTR was raised in 67 (55.8%), and 10 (8.3%) were diagnosed with ATTRwt. Patients identified with ATTRwt were predominantly asymptomatic and had mildly elevated NT-proBNP, mildly increased LVH, preserved left ventricular ejection fraction, and systolic longitudinal function, which differed significantly from clinical ATTRwt controls (P < 0.001).ConclusionsThe study found an ATTRwt prevalence of 8.3% in a population of age and gender-selected patients with a recent history of CTS. The identified patients with ATTRwt had less structural and functional cardiac involvement than clinical ATTRwt controls.
| S-EPMC9871677 | biostudies-literature
Project description:Background: Carpal tunnel release (CTR) is the most common hand surgery operation performed in the United States. While serious complications are rare, they can be life-altering to patients. In some cases, patients will pursue malpractice claims against the surgeon. This study aimed to understand the patient, procedure, and surgeon factors involved in CTR malpractice litigation. Methods: The Westlaw legal database was queried for all recorded CTR malpractice cases resulting in jury verdicts and settlements. Only cases directly related to injury after CTR were included in this study. Cases were reviewed to determine plaintiff demographics, defendant training, liability, injury, outcomes, and monetary awards. Results: Ninety-two unique cases were identified. Plaintiffs were predominantly female (n = 65, 71%). Most surgeons were orthopedic-trained (n = 37, 52%). Only 27% of defendants (n = 19) were hand fellowship-trained. Only 19% of cases resulting in a monetary award were against surgeons who had hand fellowship training. The majority of cases (n = 61, 66%) were found in favor of the defendant. Monetary awards averaged $305 923 (range = $12 000-1 338 147), while settlements averaged $266 250. Alleged liability was most for surgeon negligence (n = 69, 75%) with a third of cases resulting in monetary awards. Median nerve injury was claimed in 41 cases (45%), with 17 (41%) resulting in monetary awards. Conclusion: Although CTR is generally safe and effective, some patients will experience complications. Median nerve injury was the most common reason for successful litigation in this study. Adequate training and experience in hand surgery may lower the risk of injuries resulting in successful malpractice suits.
| S-EPMC6760086 | biostudies-literature
Project description:Wild-type transthyretin amyloid cardiomyopathy (ATTRwt-CM) is caused by the deposition of wild-type transthyretin (TTR) amyloid fibrils in the heart. The age at diagnosis of ATTRwt-CM is reported to be approximately 70-80 years, and patients commonly present with non-disease-specific cardiac abnormalities, such as heart failure with preserved ejection fraction and diastolic dysfunction. The disease can be fatal if left untreated, with an approximate survival of 3-5 years from diagnosis. An oral TTR stabilizer, tafamidis, has enabled early intervention for the treatment of ATTRwt-CM. However, awareness of ATTRwt-CM remains low, and misdiagnosis and a delay in diagnosis are common. This review discusses the epidemiology, characteristics, treatment strategy, and red-flag symptoms and signs of ATTRwt-CM based on the published literature, as well as recent advances in diagnostic modalities that enable early and accurate diagnosis of the disease. We also discuss an algorithm for early and accurate diagnosis of ATTRwt-CM in daily clinical practice. In our diagnostic algorithm, a suspected diagnosis of ATTRwt-CM should be triggered by unexplained left ventricular hypertrophy (LVH), which is LVH that cannot be explained by an increased afterload due to hypertension or valvular disease. In addition, heart failure symptoms, laboratory test results (N-terminal pro-B-type natriuretic peptide, high-sensitivity troponin T, or high-sensitivity troponin I), electrocardiogram and imaging (echocardiogram or cardiac magnetic resonance) data, age (≥60 years), and medical history suggestive of ATTRwt-CM (e.g. carpal tunnel syndrome) should be examined. Detailed examinations using bone scintigraphy and monoclonal protein detection tests followed by tissue biopsy, amyloid typing, and TTR genetic testing are warranted for a definite diagnosis of ATTRwt-CM.
| S-EPMC8318452 | biostudies-literature
Project description:BackgroundTransthyretin amyloid cardiomyopathy results from the accumulation of wild-type (ATTRwt) or variant (ATTRv) transthyretin amyloid fibrils in the myocardium. THAOS (Transthyretin Amyloidosis Outcomes Survey) is a global, longitudinal, observational survey of patients with ATTRv and ATTRwt amyloidosis and asymptomatic patients with transthyretin mutations.ObjectivesThis study explored temporal trends in ATTRwt amyloidosis diagnoses using data from THAOS.MethodsUsing THAOS data from December 2007 to January 2020, the following comparisons were made according to year: ATTRwt amyloidosis diagnoses in the United States versus rest of the world, ATTRwt versus ATTRv amyloidosis with cardiac-associated mutations diagnoses, and ATTRwt amyloidosis diagnoses by tissue biopsy versus bone scintigraphy.ResultsThere were 1,069 patients with ATTRwt amyloidosis and 525 with ATTRv amyloidosis with cardiac mutations enrolled in THAOS. The median time from symptom onset to ATTRwt amyloidosis diagnosis did not change over the past 5 years (>60 months from 2015-2019). ATTRwt amyloidosis diagnoses increased from 2 in 2005 to >100 per year from 2016, with a more pronounced increase in the United States compared with the rest of the world. Diagnoses of ATTRwt amyloidosis by tissue biopsy increased yearly and peaked in 2014 before declining, whereas diagnoses by bone scintigraphy increased markedly since 2011. ATTRv amyloidosis with cardiac mutation diagnoses increased from 3 in 2005 to 37 in 2011, then plateaued. The proportion of patients with ATTRwt amyloidosis diagnosed with New York Heart Association functional class III/IV heart failure decreased from 2012 (46.4%) to 2019 (16.0%).ConclusionsIn the past decade, ATTRwt amyloidosis diagnoses increased worldwide. Despite the growing utilization of bone scintigraphy, patients are diagnosed several years after symptom onset. (Transthyretin Amyloidosis Outcomes Survey [THAOS]; NCT00628745).
| S-EPMC8543133 | biostudies-literature
Project description:BackgroundTo evaluate the correlation between carpal tunnel pressure (CTP) and the clinical presentations, and to explore the possible predictors for the postoperative recovery pattern in patients with carpal tunnel syndrome (CTS).Materials and methodsConsecutive patients with idiopathic CTS following percutaneous ultrasound-guided carpal tunnel release (UCTR) were enrolled. CTP was measured preoperatively and immediately after operation. The Boston Carpal Tunnel Questionnaire (BCTQ) and the cross-sectional area (CSA) of median nerve were recorded preoperatively and at 1, 3, and 12 months postoperatively.Results37 patients (37 hands; 8 men and 29 females; median age, 59.0 years) were enrolled. CTP significantly decreased immediately from 40.0 (28.0-58.0) to 13.0 (8.0-20.0) mmHg after UCTR. BCTQ scores significantly improved at 1 month postoperatively, and the improvement trend persisted until 12 months postoperatively (p < 0.001). Preoperative CTP was positively correlated with preoperative CSA and preoperative BCTQ scores (p < 0.05, all). Using group-based trajectory modeling, all patients were categorized into the "gradual recovery" or "fast recovery" group. Higher preoperative CTP was significantly associated with a faster recovery pattern (odds ratio: 1.32).ConclusionsPreoperative CTP was well correlated with the clinical presentations and might be a useful predictor for the postoperative clinical recovery pattern.
| S-EPMC9325166 | biostudies-literature
Project description:Ultrasound (US) is used with a minimally invasive cutting device to perform carpal tunnel release with a 3 mm wrist incision. US localizes tendons, arteries, and median nerve for safe introduction of the device into the wrist. The device is inserted in a blunt configuration under the flexor retinaculum, and a cutting wire is deployed that advances a 0.9-mm needle in the palm. The surgeon releases the flexor retinaculum from the inside out through the two skin punctures. Flexor retinaculum release is confirmed with US.
| S-EPMC3840770 | biostudies-literature
Project description:AimsThe focus on wild-type transthyretin amyloid cardiomyopathy (ATTRwt-CM) is increasing because of novel treatment options. There is currently no report on a large number of Japanese patients with ATTRwt-CM. The study aimed to examine the characteristics and prognosis of ATTRwt-CM in Japan.Methods and resultsConsecutive patients (78.5 ± 6.4 years old at diagnosis) with ATTRwt-CM diagnosed at Kumamoto University Hospital between December 2002 and December 2019 were retrospectively reviewed. Data, including demographic characteristics, co-morbidities, clinical manifestations at diagnosis, laboratory results, electrocardiographic and echocardiographic data, imaging and pathological findings, and treatment were obtained. Of 129 patients included in this study, 110 patients (85%) were male. The median period from initial symptom onset to diagnosis was 15.5 (2-75) months. Heart failure was the most common clinical manifestation leading to diagnosis (61%) and initial manifestations (49%). Of 106 patients, carpal tunnel syndrome was observed in 57 patients (54%), and the median period from initial symptom onset to diagnosis was 96 (48-120) months. Histopathological confirmation of transthyretin amyloid was achieved in 94 patients (73%), including 66 (51%) and 28 cases (22%) with endomyocardial and extracardiac biopsies. During the observation period (median 15.0 [inter-quartile range, 5.4-33.2] months after diagnosis), 34 patients (26%) died. Of these, 27 patients (79%) had cardiovascular deaths (heart failure, 25; sudden death, two). The median survival duration was 58.9 months and the 5 years' survival rate was 48%. According to a multivariate Cox hazard analysis, age [hazard ratio (HR), 1.14; 95% confidence interval (CI), 1.05-1.23, P = 0.002] and low serum sodium levels (HR, 0.89; 95% CI, 0.79-0.996; P = 0.04) contributed to all-cause mortality, and low serum sodium levels contributed to hospitalization for heart failure (HR, 0.86; 95% CI, 0.77-0.96; P = 0.005).ConclusionsClinical characteristics and prognosis of ATTRwt-CM patients in Japan were examined. Carpal tunnel syndrome can be considered an indication for diagnosis of ATTRwt-CM. Age and low serum sodium level were significant predictive factors of all survival outcomes. The clinical features of ATTRwt-CM should be recognized to provide appropriate treatment.
| S-EPMC7524255 | biostudies-literature