Search

IMPORTANCE: Syncope is the most powerful predictor for subsequent life-threatening events (LTEs) in patients with congenital long QT syndrome (LQTS). Whether distinct syncope triggers are associated with differential subsequent risk of LTEs is unknown. OBJECTIVE: To evaluate the association between adrenergic (AD)– and nonadrenergic (non–AD)-triggered syncopal events and the risk of subsequent LTEs in patients with LQT types 1 to 3 (LQT1-3). DESIGN, SETTING, AND PARTICIPANTS: This retrospective cohort study included data from 5 international LQTS registries (Rochester, New York; the Mayo Clinic, Rochester, Minnesota; Israel, the Netherlands, and Japan). The study population comprised 2938 patients with genetically confirmed LQT1, LQT2, or LQT3 stemming from a single LQTS-causative variant. Patients were enrolled from July 1979 to July 2021. EXPOSURES: Syncope by AD and non-AD triggers. MAIN OUTCOMES AND MEASURES: The primary end point was the first occurrence of an LTE. Multivariate Cox regression was used to determine the association of AD- or non–AD-triggered syncope on the risk of subsequent LTE by genotype. Separate analysis was performed in patients with β-blockers. RESULTS: A total of 2938 patients were included (mean [SD] age at enrollment, 29 [7] years; 1645 [56%] female). In 1331 patients with LQT1, a first syncope occurred in 365 (27%) and was induced mostly with AD triggers (243 [67%]). Syncope preceded 43 subsequent LTEs (68%). Syncopal episodes associated with AD triggers were associated with the highest risk of subsequent LTE (hazard ratio [HR], 7.61; 95% CI, 4.18-14.20; P < .001), whereas the risk associated with syncopal events due to non-AD triggers was statistically nonsignificant (HR, 1.50; 95% CI, 0.21-4.77; P = .97). In 1106 patients with LQT2, a first syncope occurred in 283 (26%) and was associated with AD and non-AD triggers in 106 (37%) and 177 (63%), respectively. Syncope preceded 55 LTEs (56%). Both AD- and non–AD-triggered syncope were associated with a greater than 3-fold increased risk of subsequent LTE (HR, 3.07; 95% CI, 1.66-5.67; P ≤ .001 and HR, 3.45, 95% CI, 1.96-6.06; P ≤ .001, respectively). In contrast, in 501 patients with LQT3, LTE was preceded by a syncopal episode in 7 (12%). In patients with LQT1 and LQT2, treatment with β-blockers following a syncopal event was associated with a significant reduction in the risk of subsequent LTEs. The rate of breakthrough events during treatment with β-blockers was significantly higher among those treated with selective agents vs nonselective agents. CONCLUSION AND RELEVANCE: In this study, trigger-specific syncope in LQTS patients was associated with differential risk of subsequent LTE and response to β-blocker therapy.

Aim: To assess the added value of Near InfraRed Fluorescence (NIRF) imaging during laparoscopic cholecystectomy. Methods: This international multicentre randomized controlled trial included participants with an indication for elective laparoscopic cholecystectomy. Participants were randomised into a NIRF imaging assisted laparoscopic cholecystectomy (NIRF-LC) group and a conventional laparoscopic cholecystectomy (CLC) group. Primary end point was time to ‘Critical View of Safety’ (CVS). The follow-up period of this study was 90 postoperative days. An expert panel analysed the video recordings after surgery to confirm designated surgical time points. Results: A total of 294 patients were included, of which 143 were randomized in the NIRF-LC and 151 in the CLC group. Baseline characteristics were equally distributed. Time to CVS was on average 19 min and 14 s for the NIRF-LC group and 23 min and 9 s for the CLC group (p0.032). Time to identification of the CD was 6 min and 47 s and 13 min for NIRF-LC and CLC respectively (p< 0.001). Transition of the CD in the gallbladder was identified after an average of 9 min and 39 s with NIRF-LC, compared to 18 min and 7 s with CLC (p< 0.001). No difference in postoperative length of hospital stay nor occurrence of postoperative complications was found. ICG related complications were limited to one patient who developed a rash after injection of ICG. Conclusion: Use of NIRF imaging in laparoscopic cholecystectomy provides earlier identification of relevant extrahepatic biliary anatomy: earlier achievement of CVS, cystic duct visualisation and visualisation of both cystic duct and cystic artery transition into the gallbladder.

Quantifying spatial and temporal fluxes of phosphorus (P) within and among agricultural production systems is critical for sustaining agricultural production while minimizing environmental impacts. To better understand P fluxes in agricultural landscapes, P‐FLUX, a detailed and harmonized dataset of P inputs, outputs, and budgets, as well as estimated uncertainties for each P flux and budget, was developed. Data were collected from 24 research sites and 61 production systems through the Long‐term Agroecosystem Research (LTAR) network and partner organizations spanning 22 U.S. states and 2 Canadian provinces. The objectives of this paper are to (a) present and provide a description of the P‐FLUX dataset, (b) provide summary analyses of the agricultural production systems included in the dataset and the variability in P inputs and outputs across systems, and (c) provide details for accessing the dataset, dataset limitations, and an example of future use. P‐FLUX includes information on select site characteristics (area, soil series), crop rotation, P inputs (P application rate, source, timing, placement, P in irrigation water, atmospheric deposition), P outputs (crop removal, hydrologic losses), P budgets (agronomic budget, overall budget), uncertainties associated with each flux and budget, and data sources. Phosphorus fluxes and budgets vary across agricultural production systems and are useful resources to improve P use efficiency and develop management strategies to mitigate environmental impacts of agricultural systems. P‐FLUX is available for download through the USDA Ag Data Commons (https://doi.org/10.15482/USDA.ADC/1523365). Assessing P fluxes and budgets is critical for sustainable agricultural intensification.P fluxes and budgets were determined for 61 production systems in the USA and Canada.P inputs, outputs, and budgets were highly variable across production systems.A detailed and harmonized dataset of P fluxes/budgets and uncertainties was developed.Data are available as comma‐separated (.csv) files through the USDA Ag Data Commons.

Aims: (1) To find a universal strategy for the identification of specific demands of a lob or task, focusing on occupations in which there may be an increased risk for [...]

IMPORTANCE: Long QT syndrome (LQTS) is characterized by prolongation of the QT interval and is associated with an increased risk of sudden cardiac death. However, although QT interval prolongation is the hallmark feature of LQTS, approximately 40% of patients with genetically confirmed LQTS have a normal corrected QT (QTc) at rest. Distinguishing patients with LQTS from those with a normal QTc is important to correctly diagnose disease, implement simple LQTS preventive measures, and initiate prophylactic therapy if necessary. OBJECTIVE: To determine whether artificial intelligence (AI) using deep neural networks is better than the QTc alone in distinguishing patients with concealed LQTS from those with a normal QTc using a 12-lead electrocardiogram (ECG). DESIGN, SETTING, AND PARTICIPANTS: A diagnostic case-control study was performed using all available 12-lead ECGs from 2059 patients presenting to a specialized genetic heart rhythm clinic. Patients were included if they had a definitive clinical and/or genetic diagnosis of type 1, 2, or 3 LQTS (LQT1, 2, or 3) or were seen because of an initial suspicion for LQTS but were discharged without this diagnosis. A multilayer convolutional neural network was used to classify patients based on a 10-second, 12-lead ECG, AI-enhanced ECG (AI-ECG). The convolutional neural network was trained using 60% of the patients, validated in 10% of the patients, and tested on the remaining patients (30%). The study was conducted from January 1, 1999, to December 31, 2018. MAIN OUTCOMES AND MEASURES: The goal of the study was to test the ability of the convolutional neural network to distinguish patients with LQTS from those who were evaluated for LQTS but discharged without this diagnosis, especially among patients with genetically confirmed LQTS but a normal QTc value at rest (referred to as genotype positive/phenotype negative LQTS, normal QT interval LQTS, or concealed LQTS). RESULTS: Of the 2059 patients included, 1180 were men (57%); mean (SD) age at first ECG was 21.6 (15.6) years. All 12-lead ECGs from 967 patients with LQTS and 1092 who were evaluated for LQTS but discharged without this diagnosis were included for AI-ECG analysis. Based on the ECG-derived QTc alone, patients were classified with an area under the curve (AUC) value of 0.824 (95% CI, 0.79-0.858); using AI-ECG, the AUC was 0.900 (95% CI, 0.876-0.925). Furthermore, in the subset of patients who had a normal resting QTc (<450 milliseconds), the QTc alone distinguished those with LQTS from those without LQTS with an AUC of 0.741 (95% CI, 0.689-0.794), whereas the AI-ECG increased this discrimination to an AUC of 0.863 (95% CI, 0.824-0.903). In addition, the AI-ECG was able to distinguish the 3 main genotypic subgroups (LQT1, LQT2, and LQT3) with an AUC of 0.921 (95% CI, 0.890-0.951) for LQT1 compared with LQT2 and 3, 0.944 (95% CI, 0.918-0.970) for LQT2 compared with LQT1 and 3, and 0.863 (95% CI, 0.792-0.934) for LQT3 compared with LQT1 and 2. CONCLUSIONS AND RELEVANCE: In this study, the AI-ECG was found to distinguish patients with electrocardiographically concealed LQTS from those discharged without a diagnosis of LQTS and provide a nearly 80% accurate pregenetic test anticipation of LQTS genotype status. This model may aid in the detection of LQTS in patients presenting to an arrhythmia clinic and, with validation, may be the stepping stone to similar tools to be developed for use in the general population.

To test whether an artificial intelligence (AI) deep neural network (DNN)-derived analysis of the 12-lead electrocardiogram (ECG) can distinguish patients with LQTS from those with acquired QT prolongation.

Stringent variant interpretation guidelines can lead to high rates of variants of uncertain significance (VUS) for genetically heterogeneous disease like long QT syndrome (LQTS) and Brugada syndrome (BrS). Quantitative and disease-specific customization of American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines can address this false negative rate.

This study sought to determine the relationship between long QT syndrome (LQTS) subtype (LTQ1, LTQ2, LTQ3) and postnatal cardiac events (CEs).

Supplemental Digital Content is available in the text.

Supplemental Digital Content is available in the text.

Supplemental Digital Content is available in the text.

To explore the transcriptomic differences between patients with hypertrophic cardiomyopathy (HCM) and controls.

Supplemental Digital Content is available in the text.

This study evaluated the effect of left cardiac sympathetic denervation (LCSD) on heart rate, cardiac contractility, and cardiopulmonary fitness in human subjects.

The phonon–glass electron crystal concept is one of the key guiding principles for the development of efficient thermoelectric materials. Here, we confirm that SrTiO3becomes a phonon–glass for large numbers of A-site vacancies in the Sr1–xLa0.67x□0.33xTiO3series and show that its electron crystal properties are stymied by the presence of a core–shell grain structure. Thermal conductivity, heat capacity, and neutron powder diffraction, complemented by representational analysis and phonon calculations, were used to investigate the thermal transport. This reveals that the heat carrying modes are dominated by Sr motions and that these become more localized upon the introduction of the A-site vacancies, consistent with the observed phonon–glass state. Impedance spectroscopy and direct current electrical measurements were used to probe the electrical properties of insulating and conducting samples. This reveals the coring of grains due to oxidation on cooling from sintering temperatures. The resultant insulating shell limits the thermoelectric power factor to S2/ρ = 0.45 mW m–1K–2and the figure-of merit to ZT = 0.15 at 900 K for Sr0.20La0.53□0.27Ti0.95Nb0.05O3−δ. The thermal properties of these materials are, therefore, controlled by an intrinsic feature of the microstructure (i.e., the A-site vacancies), whereas the electrical properties are grain boundary limited, which in principle can be controlled independently to raise S2/ρ and ZT.

The objective of this study was to evaluate contemporary clinical outcomes and identify triggers for arrhythmias or sudden death in an international cohort of Timothy Syndrome (TS) patients including those with novel TS-associated CACNA1C mutations.

Arrhythmogenic cardiomyopathy (ACM) is a heritable disease characterized by fibrofatty replacement of cardiomyocytes, has a prevalence of approximately 1 in 5000 individuals, and accounts for approximately 20% of sudden cardiac death in the young (≤35 years). ACM is most often inherited as an autosomal dominant trait with incomplete penetrance and variable expression. While mutations in several genes that encode key desmosomal proteins underlie about half of all ACM, the remainder is elusive genetically. Here, whole exome sequencing (WES) was performed with genomic triangulation in an effort to identify a novel explanation for a phenotype‐positive, genotype‐negative multi‐generational pedigree with a presumed autosomal dominant, maternal inheritance of ACM. WES and genomic triangulation was performed on a symptomatic 14‐year‐old female proband, her affected mother and affected sister, and her unaffected father to elucidate a novel ACM‐susceptibility gene for this pedigree. Following variant filtering using Ingenuity® Variant Analysis, gene priority ranking was performed on the candidate genes using ToppGene and Endeavour. The phylogenetic and physiochemical properties of candidate mutations were assessed further by 6 in silicoprediction tools. Species alignment and amino acid conservation analysis was performed using the Uniprot Consortium. Tissue expression data was abstracted from Expression Atlas. Following WES and genomic triangulation, CDH2emerged as a novel, autosomal dominant, ACM‐susceptibility gene. The CDH2‐encoded N‐cadherin is a cell‐cell adhesion protein predominately expressed in the heart. Cardiac dysfunction has been demonstrated in prior CDH2knockout and over‐expression animal studies. Further in silicomutation prediction, species conservation, and protein expression analysis supported the ultra‐rare (minor allele frequency <0.005%) p.Asp407Asn‐CDH2 variant as a likely pathogenic variant. Herein, it is demonstrated that genetic mutations in CDH2‐encoded N‐cadherin may represent a novel pathogenetic basis for ACM in humans. The prevalence of CDH2‐mediated ACM in heretofore genetically elusive ACM remains to be determined.

To describe our early observations with sudden cardiac arrest (SCA) and sudden death (SD) in patients using vape products.

Left cardiac sympathetic denervation (LCSD) exerts significant antifibrillatory effects in patients with long QT syndrome (LQTS). Recently, electromechanical window (EMW) has emerged as a novel torsadogenic marker in LQTS, superior to QT interval (QTc) in distinguishing symptomatic from asymptomatic patients. To explore the hypothesis that LCSD improves EMW most favorably in patients with LQT1. From September 2006 to July 2015, 44 LQT1 and 25 LQT2 patients underwent LCSD. Subset analysis was performed on the six LQT1 and seven LQT2 patients who had echocardiograms both pre‐LCSD and ≥3 months post‐LCSD. EMW is defined as the time difference (ms) between aortic valve closure and the end of the QT interval, measured from an ECG on the concurrent echocardiogram. Compared to published normal EMW values of 22 ± 19 ms, pre‐LCSD EMW mean values were −78 ± 36 ms in LQT1 and −71 ± 35 ms in LQT2 (P< .001). Following LCSD, there was a 57 ± 35 ms decrease in QTc in LQT1 (P= .16) and 23 ± 21 ms decrease in QTc in LQT2 (P= .3). Overall, there was a 35 ± 57 ms mean improvement in EMW post‐LCSD (P= .04). Five of the 6 (83%) LQT1 subjects had a favorable EMW change post‐LCSD (mean improvement 56 ± 25 ms, P= .04). Five of the 7 (71%) LQT2 subjects had a favorable EMW change post‐LCSD (mean improvement 18 ± 19 ms, P= .2). The precise mechanism of the LCSD therapeutic effect in LQTS patients is not fully understood. This pilot study raises the possibility that LCSD's antitorsadogenic effect in patients with LQT1 could be conferred in part by restoration of electromechanical order, evidenced by normalization of the EMW.

The study sought to determine the outcomes of continued sports participation in patients with catecholaminergic polymorphic ventricular tachycardia (CPVT).

To describe the survival of a large nonobstructive hypertrophic cardiomyopathy (NO-HCM) cohort and to identify risk factors for increased mortality in this population.

Supplemental Digital Content is available in the text.

Hypertrophic cardiomyopathy (HCM) is the most common heritable cardiovascular disease and a leading cause of identifiable sudden cardiac death (SCD) in the young. Herein, we sought to determine the genotype–phenotype correlations in a cohort of unrelated, genotyped patients diagnosed with HCMat a young age, as well as to characterize the differences between HCMdiagnosed in adulthood and HCMdiagnosed at a young age. From 1999 to 2011, 1053 unrelated patients diagnosed with HCMwere enrolled in research‐based genetic testing. The electronic medical record was reviewed to identify those with HCMdiagnosed at ≤21 years (N = 137, mean age at diagnosis 13.2 ± 6 years, 64% male). From this cohort of patients recruited from a tertiary care referral center, the genetic test was positive in 71 (52%), which was significantly higher than patients diagnosed >21 years (31%; P< .001). Genotype‐positive patients had increased maximum left ventricular wall thickness (24.9 ± 8.0 vs. 21.6 ± 7.4 mm, P= .01) and higher incidence of reverse‐curve ventricular septal morphology (71% vs. 40%, P< .001). Unrelated to genotype status, 26/137 patients (19%) experienced significant HCM‐related morbidity/mortality including progressive heart failure symptoms in 12, transplantation in 4, and death in 10. Among patients diagnosed with HCMduring the first two decades of life, the yield of genetic testing is significantly higher than when diagnosed at later age. While the phenotype of young HCMpatients is worse than patients whose HCMis diagnosed at later age, the phenotypes of genotype‐positive and genotype‐negative young patients were similar. Independent of genotype, nearly 30% of the patients with follow‐up in this study had symptom progression, transplant, or death.

Supplemental Digital Content is available in the text.

Supplemental Digital Content is available in the text.

Long QTsyndrome (LQTS) is a genetic heart rhythm disorder that may present with syncope, seizures, or sudden cardiac death. Breath holding spells (BHS) occur in 5% of all children and have been noted in children with LQTSanecdotally. The purpose of this study was to determine the frequency of BHSin children diagnosed with LQTSat ≤5 years of age. A retrospective review was performed to identify children diagnosed with LQTSwho were ≤5 years old at initial presentation to our LQTSclinic from August 1999 to November 2013. The mean length of follow‐up was 6.4 ± 2.8 years. The electronic medical records were reviewed for clinical presentation of BHS, as well as LQTS‐associated symptoms, diagnostic tests, and treatment. The study cohort consisted of 115 children with LQTS(58% male; median age at diagnosis, 11 months [range, birth to 5 years]; mean corrected QT interval (QTc), 478 ± 60 milliseconds). At presentation, 80% of patients were asymptomatic. Genetic testing revealed type 1 LQTS(LQT1) in 48%. Overall, 5 of 115 patients (4.3%) had BHS(2 of 5 [40%] male, mean QTc: 492 ± 14 milliseconds, 4 [80%] with family history of LQTS). BHSwere the presenting symptom in 1 of 23 symptomatic patients (4.3%). All BHSoccurred in patients with LQT1 (P= .02). Although BHSamong children with LQTSare relatively rare and occur at similar frequency as the general population, they can be the presenting symptom for a heart rhythm disorder. Careful attention to BHSis important to distinguish an innocent BHSfrom a potential LQTS‐triggered cardiac event so that proper treatment is initiated.

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a genetic disorder causing life-threatening arrhythmias whenever sympathetic activity increases. -lockers are the mainstay of therapy; when they fail, implantable cardioverter-defibrillators (ICDs) are used but often cause multiple shocks. Preliminary results with flecainide appear encouraging. We proposed left cardiac sympathetic denervation (LCSD) as useful additional therapy, but evidence remains anecdotal.

Hypertrophic cardiomyopathy is underscored by profound phenotypic and genotypic heterogeneity. Echocardiographically, hypertrophic cardiomyopathy can be categorized into four morphological subtypes: reverse curve, sigmoidal, neutral contour, and apical variant. Previous studies indicate that reverse curve hypertrophic cardiomyopathy is the strongest predictor of a positive genetic test. Little is known about the spectrum and prevalence of mutations and genotype–phenotype correlations in apical hypertrophic cardiomyopathy. Between 1999 and 2007, 1053 patients with the diagnosis of hypertrophic cardiomyopathy (60% male, age at diagnosis 44.4 ± 19 years) underwent sarcomeric genetic testing. Blinded to the genetic test results, each echocardiogram was scored for septal morphology and phenotyping was performed using the patient's medical record. Subset analysis was performed to elucidate the genotype, phenotype, and outcome of apical hypertrophic cardiomyopathy. Overall, 71 patients (7%) had apical hypertrophic cardiomyopathy on echocardiography (63% male, mean age 47.8 ± 15 years, mean left ventricular wall thickness 19.8 ± 6 mm). Left ventricular outflow tract obstruction was uncommon (seven patients; 10%). Eighteen patients (25%) had a positive genetic test, with the majority of mutations found in MYBPC3(six; 35%) and MYH7(six; 35%). Follow‐up was available on 68 patients (96%) with a median age of 57.3 years (range 19.3–82 years). Mean follow‐up was 5.5 years (range 0.1–18.2 years). There was no statistical difference between the occurrence rates of adverse events between genotype‐positive and genotype‐negative groups. In this largest cohort of patients with genetic testing for hypertrophic cardiomyopathy, <10% exhibited apical disease. This least common subtype was associated with a negative genetic test result 75% of the time. In contrast to prior publications suggesting a predilection for ACTC1/TPM1mutations in patients with apical hypertrophic cardiomyopathy, the two most common genotypes (MYBPC3‐HCMand MYH7‐HCM) remained most common among patients who had a positive genetic test.

Cardiogenic seizures are common and could be the sentinel event heralding the presence of congenital long QTsyndrome (LQTS). Distinguishing a cardiogenic seizure from a neurogenic one is of the utmost importance. Herein, we present the case of a 12‐year‐old boy with recurrent episodes of syncope and seizures. Despite absence of QTprolongation on electrocardiogram, absence of documented arrhythmias, a negative LQTSgenetic test, and recurrent episodes while on nadolol beta‐blocker therapy, he was diagnosed with LQTSand implanted with an implantable cardioverter defibrillator (ICD). When syncope and seizure occurred with normal sinus rhythm documented on the ICD, he was referred to neurology, and an electroencephalogram was positive for numerous bursts of bilaterally synchronous generalized discharges. He was started on antiepileptic treatment after which his seizures resolved. His LQTSdiagnosis was removed, beta‐blocker therapy discontinued, and his ICDwas explanted. He has been seizure‐free for over 2 years.

To determine the prevalence and spectrum of mutations and genotype-phenotype relationships in the largest hypertrophic cardiomyopathy (HCM) cohort to date and to provide an easy, clinically applicable phenotype-derived score that provides a pretest probability for a positive HCM genetic test result.

Hypertrophic cardiomyopathy is the most common heritable cardiovascular disease and a common cause of sudden cardiac death (SCD) in young adolescents and athletes. Clinical risk stratification for SCDis predicated on the presence of established risk factors; however, this assessment is far from perfect. Herein, we present a 16‐year‐old male who was resuscitated successfully from his sentinel event of out‐of‐hospital cardiac arrest. Prior to this event, he was asymptomatic and lacked all traditional SCD‐predisposing risk factors for hypertrophic cardiomyopathy.

To evaluate outcomes for athletes with a genetic heart disease (GHD) and an ICD after return-to-play (RTP) approval.

Long QT syndrome (LQTS) is a potentially lethal but highly treatable cardiac channelopathy. Treatment options include pharmacotherapy, device therapy, and left cardiac sympathetic denervation (LCSD). Here, we sought to determine the characteristics of LQTS patients who have had ≥1 LQTS-related breakthrough cardiac event (BCE) after LCSD.

To determine the phenotype and outcome of patients with QTc of at least 500 ms and to create a pro-QTc risk score for mortality.

Incomplete penetrance and variable expression of hypertrophic cardiomyopathy (HCM) is well appreciated. Common genetic polymorphisms variants that may affect HCM penetrance and expression have been predicted but are not well established.

Treatment options for patients with recurrent ventricular arrhythmias refractory to pharmacotherapy and ablation are minimal. Although left cardiac sympathetic denervation (LCSD) is well established in long-QT syndrome, its role in non–long-QT syndrome arrhythmogenic channelopathies and cardiomyopathies is less clear. Here, we report our single-center experience in performing LCSD in this setting.

Abstract: Aim: To highlight gender-related differences in octogenarians with a congenital coronary artery fistula (CAF).Materials and methods: We present two elderly female patients with a congenital fistula, a septuagenarian and a nonagenarian, and review the world literature between 1954–2010. Results: The septuagenarian patient presented with easy fatigability and the nonagenarian patient with acute myocardial infarction contralaterally to the fistula. Coronary angiography (CAG) demonstrated a coronary-pulmonary artery fistula (CPF). The nonagenarian patient underwent percutaneous coronary intervention of the right coronary artery. CAG revealed a CPF associated with a huge multiple aneurysmal formation. Data from 57 mainly symptomatic patients with a mean age of 75.3 years (range 70–87 years) were collected. The cohort was subdivided into female (mean age 84.3 years) and male (mean age 75.2 years) subgroups and compared with each other. Multi-origin (bilateral and multilateral) was prevalent in females, 40% versus 12% in males. Aneurysmal formation was found in females and males in 40% and 18%, respectively. Ethnicity was 65% Caucasian and 35% Asian. Multi-origin fistulas were prevalent in the Asian (45%) compared with the Caucasian (11%) subset. Conclusions: A septuagenarian and a nonagenarian female patient with congenital CAF are presented. On reviewing the literature, important differences were found between elderly females and males with congenital CAF.

Distinguishing congenital long QT syndrome from QT prolongation caused by drugs or a different underlying disease process is essential for selecting the proper treatment. Herein, we present a case of a patient referred for left cardiac sympathetic denervation as a last resort treatment option for her 19‐year standing diagnosis of long QT syndrome with malignant ventricular fibrillation. However, based on her atypical clinical course and additional imaging studies, a diagnosis of left ventricular noncompaction, rather than long QT syndrome, was made. She left the clinic with a drastically different treatment plan and an improved quality of life. Because many cardiac and noncardiac diseases can demonstrate QT prolongation on electrocardiogram, all possible diagnoses should be considered before diagnosing a patient with congenital long QT syndrome especially with regard to the profound treatment implications and genetic follow‐up in family members.

Myocardial late gadolinium enhancement (LGE) on contrast-enhanced magnetic resonance imaging (CE-MRI) of patients with hypertrophic cardiomyopathy (HCM) has been suggested to represent intramyocardial fibrosis and, as such, an adverse prognostic risk factor. We evaluated the characteristics of LGE on CE-MRI and explored whether LGE among patients with HCM was associated with genetic testing, severe symptoms, ventricular arrhythmias, or sudden cardiac death (SCD).

Introduction:Hypertrophic cardiomyopathy (HCM) is a major cause of sudden cardiac death in the young and especially in young athletes. The treadmill exercise test (TEST) has an important role in the functional assessment of patients with HCM. Herein, TEST-derived peak oxygen uptake (VO2 max) is a proxy for cardiopulmonary fitness. However, the correlation between symptoms and VO2 - especially in active young patients with HCM - is unclear.Objective:To explore the relationship between TEST-derived VO2 and symptomology in athletes and non-athletes with HCM.Methods:Overall, 91 patients (40% female) with HCM and a TEST with VO2data were included in this case-control study. Data were abstracted from the electronic health record using the first TEST performed at Mayo Clinic. Patients were defined as an athlete if they participated in an organized, competitive sport.Results:Overall, 60 HCM patients (33% female) were categorized as an athlete. HCM athletes were younger (17 vs. 27 years; p<0.0001) and less likely to be symptomatic at the time of their TEST (OR=0.24; p=0.01). Additionally, athletes had a higher VO2 max (86% vs. 68% of predicted; p<0.0001) and reached higher exercise times (93% vs 76% of predicted; p<0.0001) compared to the non-athletes with HCM. When comparing symptomatic (n = 18) to asymptomatic patients (n = 73), symptomatic patients had i) a reduced exercise time (68% vs. 92% of predicted; p=0.002) and ii) lower VO2 max (62% vs 84% of predicted; p<0.001). Finally, among the 27 patients (30%) with a VO2max < 70% predicted (n=27), they i) more likely had a history of cardiac arrest (4 vs 0; p=0.006) and ii) were more likely to be symptomatic (OR=7.7; p< 0.0001) than those with VO2 ≥ 70% of predicted (n=64). Importantly, however, 15/27 (56%) patients (8 athletes/7 non-athletes) with a VO2 max < 70% were asymptomatic.Conclusions:Reduced exercise capacity is common in athletes with HCM and does not correlate with symptom status. However, if the TEST-derived VO2 max is < 70%, treatment intensification may be necessary as it may portend an adverse outcome both arrhythmically and mechanically.