A Case of Early Hereditary Transthyretin Amyloid Cardiomyopathy Recognition With Genetic Screening: A Case Report

Background: Transthyretin amyloid cardiomyopathy (ATTR-CM) is one of the most common types of cardiac amyloidosis. Amyloid cardiomyopathy more commonly affects men, elderly, and 3% to 4% of the African-American population. ATTR-CM suspicion and diagnosis is challenging; however, awareness of the disease is increasing, and best practices to identify it are being proposed. The approach to suspected cases of ATTR-CM relies on the presence of heart failure, red flag signs and symptoms, and age >65 or >70 for men and women respectively. Little is known about cases when it presents in early ages. Case: We report a 62-year-old African American male with past medical history of hyperlipidemia, prostate cancer, hypertension, bilateral carpal tunnel surgery that had debuted with a cardiac arrhythmia at age 55 and was diagnosed with heart failure several years later. Restrictive cardiomyopathy was suspected, and genetic screening was sent for ATTRm which confirmed a pathogenic trasnthyretin gene mutation. Endomyocardial biopsy was performed which confirmed cardiac amyloid deposition. Discussion: ATTR-CM is a rare disease with an increasing prevalence. Cases with out of proportion signs and symptoms of heart failure with preserved ejection fractions should raise the suspicion of ATTR-CM despite age.

146 Prognostic significance of unexplained left ventricular hypertrophy in patients undergoing carpal tunnel surgery

Aims Carpal tunnel (CT) syndrome is a recognized red-flag of cardiac amyloidosis (CA) and increased cardiovascular (CV) morbidity. We designed this study to characterize the CV profile of patients with CT syndrome at the time of first surgery and to identify high-risk presentations. Methods and results We retrospectively reviewed 643 patients who underwent CT surgery between 2007 and 2019. Of them, 130 patients (77 years, 45% males, LVEF 62%) with available CV characterization within ±12 months from CT surgery were included. Abnormal loading conditions causing cardiac hypertrophy (LVH) were investigated to distinguish explained LVH (Ex-LVH) from unexplained LVH (Un-LVH). The primary outcome of the study was all-cause mortality. The secondary outcome measures were the occurrence of (i) new-onset heart failure (HF) or worsening HF requiring hospitalization (HHF) or (ii) pacemaker implantation. New-onset HF was defined as the development of HF signs and symptoms requiring an unplanned cardiologic examination or hospitalization. Median follow-up was 63 months [interquartile range (IQR): 30–95]. LVH was found in 65 (50%) patients, 33% of them presented Un-LVH. Compared to the others, Un-LVH patients were older (77, 75 vs. 70 years in Un-LVH, Ex-LVH, and non-LVH, respectively; P = 0.002), had higher rates of ECG-echo discrepancy (70%, 14.3% and 1.6%, respectively; P < 0.001) and of echocardiographic findings of CA (24%, 7%, and 0%, P < 0.001). Among Un-LVH patients, 9 (43%) experienced death and 7 (33%) developed HF at 3.8 and 2.4 years from CT surgery, respectively. Compared to the others, death and HF development rates were higher in Un-LVH patients both at unadjusted (P = 0.01 and P = 0.02, respectively) and adjusted analysis for age, gender, and renal insufficiency (P = 0.00038 and P = 0.050, respectively). Conclusions At the time of CT surgery, Un-LVH was found in more than 30% of patients with LVH and 24% of them showed echocardiographic features suggesting an underdiagnosed CA. Un-LVH was associated with higher all-cause mortality and HF development.

The association of sensory phenotype and concomitant mood, sleep and functional impairment with the outcome of carpal tunnel surgery

Background Up to 25% of people who have had carpal tunnel release surgery (CTR) fail to report improvement; however, evidence for prognostic indicators in this surgical cohort is limited. To identify candidate prognostic factors, this study investigated the association of quantitative sensory testing (QST) derived sensory phenotype and attendant impairment with patient-reported surgical outcome. Methods With ethical approval and informed consent, this prospective observational longitudinal study recruited patients from two London hospitals. Multimodal phenotyping measures including quantitative sensory testing (QST), pain parameters, insomnia, pain-related worry, mood and function, were evaluated prior to; and at 3- and 6-months post-surgery. Pain in median nerve distribution with electrophysiologically confirmed conduction delay and DN4 score ≥ 4 was defined as neuropathic. Primary outcome was patient-rated change at 6 months, dichotomised as poor outcome; “worse” or “no change” and good outcome; “slightly better”, “much better” or “completely cured”. Results Seventy-six patients participated. Prior to surgery, substantial heterogeneity in established categories of somatosensory function was observed with 21% of participants categorised as having a healthy sensory phenotype; 29% with thermal hyperalgesia; 32% mechanical hyperalgesia and 18% sensory loss. Seventy six percent of participants were classified as having neuropathic pain, 33% with high levels of pain related worry and 64% with clinical insomnia. Observed differences in pain, sleep impairment, psychological factors and function, between sensory phenotypic groups, was not significant. At 3- and 6-months post-surgery there was significant improvement in all phenotyping measures with a moderate to large effect size. Thermal and mechanical measures of somatosensation improved (p < 0.001), as did functional ability (p < 0.001). Symptom severity diminished (p < 0.001), as did pain-related worry (p < 0.001), anxiety (p = 0.02) and insomnia (p < 0.001). Patient-rated surgical outcome was good in 92% of the cohort, poor in 8%. Baseline sensory phenotype category was not associated with surgical outcome however pain-related worry, anxiety and functional interference were significantly associated with outcome (p ≤ 0.05). Conclusion In patients undergoing carpal tunnel surgery, pain-related worry, anxiety and pain functional interference are candidate prognostic outcome factors and require further elucidation.

Accessory Palmaris Longus Encountered during Carpal Tunnel Surgery: A Case Report

The accessory palmaris longus is a rare anatomical variant in the wrist and forearm, which has been reported as the cause of carpal tunnel syndrome. This paper reports a case of the accessory palmaris longus incidentally found during carpal tunnel surgery. The paucity of awareness on the accessory palmaris longus in carpal tunnel surgery may lead to accidental iatrogenic injury to the median nerve or insufficient decompression of the median nerve.

High-resolution sonographic study of the communicating branch of Berrettini: an anatomical feasibility study

Sensory changes are common manifestations of nerve complications of carpal tunnel surgery. Division or contusion of a superficial communicating branch between the median nerve and the ulnar nerve, the communicating branch of Berrettini, can explain these symptoms. The aim of this study was to describe the potential value of high-resolution sonography to examine this branch. We conducted a study on eight fresh cadaver hands. An ultrasound assessment of the communicating branch of Berrettini, accompanied by an injection of methylene blue, was performed by a senior radiologist. Subsequent dissections confirmed that the eight guided ultrasound injections allowed the methylene blue to be placed around the origin and termination of the communicating branch of Berrettini. This study extends the limits of ultrasound both in the postoperative diagnosis of potential nerve complications and its possible use in ultrasound-guided carpal tunnel release.