Cardiovascular Autonomic Dysfunction in Hospitalized Patients with a Bacterial Infection: A Longitudinal Observational Pilot Study in the UK.

PURPOSE: A temporal reduction in the cardiovascular autonomic responses predisposes patients to cardiovascular instability after a viral infection and therefore increases the risk of associated complications. These findings have not been replicated in a bacterial infection. This pilot study will explore the prevalence of cardiovascular autonomic dysfunction (CAD) in hospitalized patients with a bacterial infection. METHODS: A longitudinal observational pilot study was conducted. Fifty participants were included: 13 and 37 participants in the infection group and healthy group, respectively. Recruitment and data collection were carried out during a two-year period. Participants were followed up for 6 weeks: all participants' cardiovascular function was assessed at baseline (week 1) and reassessed subsequently at week 6 so that the progression of the autonomic function could be evaluated over that period of time. The collected data were thereafter analyzed using STATA/SE version 16.1 (StataCorp). The Fisher Exact test, McNemar exact test, Mann-Whitney test and Wilcoxon test were used for data analysis. RESULTS: 32.4% of the participants in the healthy group were males (n = 12) and 67.6% were females (n = 25). Participants' age ranged from 33 years old to 76 years old with the majority being 40-60 years of age (62.1%) (Mean age 52.4 SD = 11.4). Heart rate variability (HRV) in response to Valsalva Maneuver, metronome breathing, standing and sustained handgrip in the infection group was lower than in the healthy group throughout the weeks. Moreover, both the HRV in response to metronome breathing and standing up showed a statistically significant difference when the mean values were compared between both groups in week 1 (p = 0.03 and p = 0.013). The prevalence of CAD was significantly higher in the infection group compared to healthy volunteers, both at the beginning of the study (p = 0.018) and at the end of follow up (p = 0.057), when all patients had been discharged. CONCLUSIONS: CAD, as assessed by the HRV, is a common finding during the recovery period of a bacterial infection, even after 6 weeks post-hospital admission. This may increase the risk of complications and cardiovascular instability. It may therefore be of value to conduct a wider scale study to further evaluate this aspect so recommendations can be made for the cardiovascular autonomic assessment of patients while they are recovering from a bacterial infectious process.

Hypovitaminosis D and Leukocytosis to Predict Cardiovascular Abnormalities in Children with Kawasaki Disease: Insights from a Single-Center Retrospective Observational Cohort Study.

Introduction: An aberrant immune response involving yet unidentified environmental and genetic factors plays a crucial role in triggering Kawasaki disease (KD). Aims: The aim of this study was to assess general and laboratory data at the onset of KD in a single-center cohort of children managed between 2003 and 2023 and retrospectively evaluate any potential relationship with the development of KD-related cardiovascular abnormalities (CVAs). Patients and methods: We took into account a total of 65 consecutive children with KD (42 males, median age: 22 months, age range: 2-88 months) followed at the Department of Life Sciences and Public Health in our University; demographic data, clinical signs, and laboratory variables at disease onset, before IVIG infusion, including C-reactive protein, hemoglobin, white blood cell (WBC) count, neutrophil count, platelet count, aminotransferases, natremia, albumin, total bilirubin, and 25-hydroxyvitamin D were evaluated. Results: Twenty-one children (32.3% of the whole cohort) were found to have echocardiographic evidence of CVAs. Univariate analysis showed that diagnosis of KD at <1 year or >5 years was associated with CVAs (p = 0.001 and p = 0.01, respectively); patients with CVAs had a longer fever duration and mostly presented atypical or incomplete presentations. Interestingly, all patients with CVAs had lower levels of vitamin D (less than 30 mg/dL, p = 0.0001) and both higher WBC and higher neutrophil counts than those without CVAs (p = 0.0001 and p = 0.01, respectively). Moreover, blood levels of albumin were significantly lower in KD patients with CVAs compared to those without (11/21, 52% versus 13/44, 30%, p = 0.02). Multiple logistic regression with correction for sex showed that serum vitamin D < 30 ng/mL, WBC count > 20.000/mm3, and age > 60 months at KD onset were the only independent factors statistically associated with CVAs. Conclusions: Hypovitaminosis D, WBC count over 20.000/mm3, and age above 5 years at KD onset emerged as independent factors statistically associated with the occurrence of CVAs.

May-Thurner Syndrome: The Worst-Case Scenario.

May-Thurner syndrome (MTS) is caused by compression of the left common iliac vein by the right common iliac artery against the spinal column. It can range from asymptomatic or present with subtle and unspecific signs and symptoms and rarely exhibit severe complications such as pulmonary embolism (PE). The diagnosis is confirmed by typical imaging findings. Treatment may include conservative measures, anticoagulation, endovascular or even surgical options. We report the case of a 20-year-old female who presented with cardiac arrest caused by an acute massive PE. Further study showed partial thrombosis of the internal iliac veins resulting from MTS. She continued anticoagulation therapy with low-molecular-weight heparin and then switched to edoxaban with a good clinical outcome. She was also referred to Vascular Surgery to discuss the possibility of iliac vein stenting. Abdominopelvic vascular compression syndromes include a large spectrum of conditions, and they are rarely considered as an etiology for venous thromboembolism. The clinical presentation of PE varies with several triggering factors and atypical presentation is more common in nonmalignant causes. The combination of noninvasive and invasive imaging modalities might be beneficial to establish a definitive diagnosis. Nevertheless, invasive procedures are often restricted to doubtful cases or to guide endovascular procedures which is the current treatment of choice. There is little evidence using nonvitamin K oral anticoagulants, but there are some case reports detailing their successful use. This case aims to point out the need for a profound understanding of different causes of deep vein and pulmonary thromboembolism; common entities in our practice but with a variety of clinical presentations and potentially caused by rare underlying conditions. MTS can be the origin of serious and deadly complications, hence the importance of early recognition and treatment.

Cardiovascular disease in retired NFL players: a systematic review.

OBJECTIVE: Despite robust research endeavors exploring post-play health implications in former NFL players, the impact of former-player status on long-term cardiovascular health has not yet been elucidated. The purpose of this systematic review is to describe the available research on the cardiovascular health in former NFL players. METHODS: Relevant studies were included from the PubMed, Scopus, and Embase databases. Studies were evaluated in accordance with PRISMA guidelines. Two independent reviewers conducted the title/abstract screenings and risk of bias determinations. The results of the studies were extracted for inclusion in the review. RESULTS: Sixteen studies met inclusion criteria. Though evidence was discordant among studies, former NFL players appeared to possess more favorable metabolic profiles and decreased mortality compared to community controls. Of note, 90% of former players were found to be overweight or obese. CONCLUSION: Though cardiovascular disease is the leading cause of death among former NFL players, they possess comparable metabolic and cardiovascular profiles to community controls. Further research is necessary to ascertain the impact of NFL play on cardiovascular health and develop tailored preventative care strategies for former players.

Offspring of women with hyperemesis gravidarum are more likely to have cardiovascular abnormalities.

BACKGROUND: Hyperemesis gravidarum (HG) is a severe form of pregnancy-related nausea and vomiting affecting 0.3-2.3% of pregnancies, which can lead to fluid, electrolyte, and acid-base imbalances, nutritional deficiencies, and weight loss, and is usually severe enough to require hospitalization. Abnormally elevated urinary ketones are commonly seen in patients with HG, and ketone bodies are free to pass through the placenta, and maternal hyperketonemia, with or without acidosis, is associated with an increased rate of stillbirth, an increased incidence of congenital anomalies, and impaired neurophysiologic development of the infant. This study investigates the obstetric outcomes of patients with HG and whether HG increases the incidence of cardiovascular disease in the offspring. METHODS: This study included 1020 pregnant women who were hospitalized in our hospital for HG and ultimately delivered in our hospital as well as pregnant women without HG in early gestation and delivered in our hospital from January 2019-January 2020, and we collected and followed up the clinical information of the pregnant women and their offspring. RESULTS: Pregnant women with HG were more likely to have severe urinary ketones, the rate of early miscarriage and mid-term miscarriage was significantly higher in women with HG compared to pregnant women without HG. Fetal and neonatal head and abdominal circumferences were smaller in HG group than in control group. Neonatal birth weight and length were also lower in the HG group and cardiovascular anomalies were more likely to occur in the offspring of women with HG when all births were followed up for 3 years. CONCLUSIONS: HG may cause poor obstetric outcomes and was associated with the development of cardiovascular disease in the offspring of women with HG.

Risk assessment for aortic dissection in Turner syndrome: The role of the aortic growth rate.

OBJECTIVE: The risk of aortic dissection (AoD) is increased in Turner syndrome (TS) but predicting those at risk is difficult. Based on scarce evidence, preventive aortic surgery is recommended when aortic diameter increases >5 mm/year. To investigate the aortic growth rate in TS and TS-related conditions associated with aortic growth. We also reported our experience of women who suffered aortic dissection (AoD), and who had preventive aortic replacement. METHODS: 151 adult TS were retrospectively identified. Women who had more than one transthoracic echocardiogram (TTE) after age 16 years were included in the aortic growth study. Aortic diameters at sinuses of Valsalva (SoV) and ascending aorta (AA) were analysed by two experts. RESULTS: 70/151 women had more than one TTE (interscan interval 4.7 years). Mean aortic growth was 0.13 ± 0.59 mm/year at SoV and 0.23 ± 0.82 mm/year at AA. Known risk factors for aortic dilatation and TS-related conditions were not associated with aortic growth. 4/151 women experienced AoD (age 25±8 years): two had paired scans for aortic growth, which was 0.67 mm/year at both SoV and AA in the first woman, and 11 mm/year (SoV) and 4 mm/year (AA) in the second. Only 1/4 of women with AoD survived; she used a TS cardiac-alert card to inform emergency personnel about her risk of AoD. 5/151 had a preventive aortic replacement, but one died post-operatively. CONCLUSIONS: Mean aortic growth in our TS population was increased compared to non-TS women and was not associated with currently known risk factors for AoD, suggesting that aortic growth rate itself could be a useful variable to stratify who is at risk for AoD.

Type A Aortic Dissection in a 24-Year-Old Patient With Kabuki Syndrome.

Our case report documents the first type A aortic dissection in a patient with Kabuki syndrome (KS) and emphasize the need for intensive cardiovascular risk monitoring in patients with KS. It stresses the importance of further research to establish a correlation and awareness for patients with KS.

Mutation in mitral valve prolapse susceptible gene DCHS1 causes familial mitral annular disjunction.

BACKGROUND: Mitral annular disjunction (MAD) is an under-recognised phenotype associated with severe ventricular arrhythmias. Limited knowledge has been gained on its molecular genesis. METHODS: A total of 150 unrelated deceased Chinese were collected for whole-exome sequencing, with analysis focusing on a panel of 118 genes associated with 'abnormal mitral valve morphology'. Cases were prespecified as 'longitudinally extensive MAD (LE-MAD)' or 'longitudinally less-extensive MAD (LLE-MAD)' according to the gross disjunctional length with a cut-off of 4.0 mm. The pedigree investigation was conducted on a case carrying an ultra-rare (minor allele frequency <0.1%) deleterious variant in DCHS1. RESULTS: Seventy-seven ultra-rare deleterious variants were finally identified. Exclusively, 12 ultra-rare deleterious variants distributed in nine genes occurred in LE-MAD, which were ANK1, COL3A1, DCHS1, FBN2, GNPTAB, LZTR1, PLD1, RYR1 and VPS13B. Ultra-rare deleterious variants in those nine genes were predominantly distributed in LE-MAD compared with LLE-MAD (28% vs 5%, OR 7.30, 95% CI 2.33 to 23.38; p<0.001), and the only gene related to LE-MAD with borderline significance was DCHS1. LE-MAD was consistently observed in a sizeable Chinese family, in which LE-MAD independently co-segregated with an ultra-rare deleterious variant in DCHS1, rs145429962. CONCLUSION: This study initially proposed that isolated LE-MAD might be a particular phenotype of MAD with a complex genetic predisposition. Deleterious variants in DCHS1 might be associated with the morphogenesis of LE-MAD.

Pediatric hypertension as an early manifestation of cardiovascular disease in children / Hipertensão arterial pediátrica como manifestação precoce de doença cardiovascular na criança

In adults, cardiovascular events associated with arterial hypertension (AH) have a major impact on morbidity and mortality. In light of recent findings, AH in children has been interpreted as early cardiovascular disease (CVD), while exposure to CV risk factors in children proves to be a predictor of subclinical CVD in adults. The American College of Cardiology/American Heart Association has recently updated the classifications for measuring blood pressure (BP) in adults and children. Primary AH in children is generally asymptomatic, and it is associated with a family history of AH, overweight/obesity, and normal morphofunctional characteristics of the urinary system. The younger the child and the higher the BP, the greater the likelihood of secondary AH. The investigation into the etiology of AH begins with a detailed anamnesis, which should include clinical information and details on the use of medication, smoking, and alcohol consumption from the perinatal period to the time of consultation. Modifying risk factors by reducing weight, decreasing alcohol consumption and increasing vegetable intake from childhood to adulthood has been associated with the resolution of AH in the childhood-adulthood transition, and with the reversal of cardiometabolic adverse effects in non-obese adult individuals. Pharmacological therapy should be initiated in cases of symptomatic AH, AH secondary to chronic kidney disease or diabetes mellitus, presence of target organ lesions, stage 2 AH with no modifiable cause and resistant AH unresponsive to lifestyle changes.

RESUMO Em adultos, eventos cardiovasculares associados à hipertensão arterial (HA) apresentam grande repercussão na morbimortalidade. À luz dos novos conhecimentos, a HA na criança tem sido interpretada como doença cardiovascular (DCV) precoce, enquanto a exposição da criança aos fatores de risco CV revela-se preditora de DCV subclínica em adultos. As classificações da medida de pressão arterial (PA) no adulto e na faixa pediátrica foram recentemente atualizadas pelo American College of Cardiology/American Heart Association. A HA primária na criança é em geral assintomática, e se associa com história familiar de HA, sobrepeso/obesidade e normalidade morfofuncional do sistema urinário. Quanto mais jovem a criança e mais elevada a PA, maior a chance de se tratar de HA secundário. A investigação da etiologia da HA inicia-se com anamnese detalhada, que deve incluir informações clínicas e de utilização de medicamentos, fumo e álcool, desde o período perinatal até o momento da consulta. A modificação de fatores de risco, com redução do peso, redução do consumo de álcool e aumento do consumo de vegetais, entre a infância e a idade adulta, mostrou associação com a resolução da HA na transição infância-idade adulta e com a reversão dos efeitos adversos cardiometabólicos nos indivíduos adultos não obesos. A terapêutica farmacológica deve ser iniciada para casos de HA sintomática, HA secundária a doença renal crônica ou a diabetes mellitus, presença de lesões de órgão alvo, HA estágio 2 sem causa modificável e HA persistente não responsiva à mudança de estilo de vida.

Combination between Dunbar Syndrome and May-Thurner Syndrome: A Rare Case Report.

Dunbar syndrome (DS) and May-Thurner syndrome (MTS) are part of a group of rare vascular disorders known as "vascular compression syndromes." Dunbar's syndrome is caused by the median arcuate ligament of diaphragm, which, due to an abnormal course, causes celiac artery compression. MTS is caused by the left common iliac vein compression pushed against the spine by the right common iliac artery causing progressive flow congestion and leading to thrombosis. Ultrasound is the first-level examination for the diagnosis of these rare pathologies and allows to recognize vascular compressions and to obtain an estimate of stenosis degree. We describe a very rare case of DS and MTS combination in a young man with postprandial pain and left lower limb thrombosis.

Risk factors associated with prolonged intensive care unit stay following surgery for total anomalous pulmonary venous connection: a retrospective study.

BACKGROUND: Prolonged intensive care unit (ICU) stays consume medical resources and increase medical costs. This study identified risk factors associated with prolonged postoperative intensive care unit (ICU) stay in children with total anomalous pulmonary venous connection (TAPVC). METHODS: The medical records of 85 patients who underwent surgical repair of TAPVC were retrospectively analyzed. The patients were divided into prolonged-stay and standard-stay groups. The prolonged stay group included all patients who exceeded the 75th percentile of the ICU stay duration, and the standard stay group included all remaining patients. The effects of patient variables on ICU stay duration were investigated using univariate and logistic regression analyses. RESULTS: Patient median age was 41 (18-103) days, and median weight was 3.80 (3.30-5.35) kg.Postoperative duration of ICU stay was 11-68 days in the prolonged stay group (n = 23) and 2-10 days in the standard stay group (n = 62). Lower preoperative pulse oximetry saturation (SpO2), higher intraoperative plasma lactate levels, and prolonged postoperative mechanical ventilation were independent risk factors for prolonged ICU stay. Preoperative SpO2 < 88.5%, highest plasma lactate value > 4.15 mmol/L, and postoperative mechanical ventilation duration was longer than 53.5 h, were associated with increased risk of prolonged ICU stay. Young age, low body weight, subcardiac type, need for vasoactive drug support, emergency surgery, long anesthesia time, low SpO2 after anesthesia induction, long cardiopulmonary bypass (CPB) and aortic clamp times, high lactate level, low temperature, large volume of ultrafiltration during CPB, large amounts of chest drainage, large red blood cells (RBCs) and plasma transfusion, and postoperative cardiac dysfunction may be associated with prolonged ICU stay. CONCLUSIONS: Lower preoperative SpO2, higher intraoperative plasma lactate levels, and prolonged postoperative mechanical ventilation were independent risk factors for prolonged ICU stay in children with TAPVC. When SpO2 was lower than 88.5%, the highest plasma lactate value was more than 4.15 mmol/L, and the postoperative mechanical ventilator duration was longer than 53.5 h, the risk of prolonged ICU stay increased. Improved clinical management, including early diagnosis and timely surgical intervention to reduce hypoxia time and protect intraoperative cardiac function, may reduce ICU stay time.

Clinical manifestations and computed tomography angiography features of anomalous left coronary artery from the pulmonary artery syndrome. / å·¦å† çŠ¶åŠ¨è„‰å¼‚å¸¸èµ·æºäºŽè‚ºåŠ¨è„‰ç»¼åˆå¾ï¼šä¸´åºŠè¡¨çŽ°åŠCTA影像学特征.

OBJECTIVES: Anomalous left coronary artery from the pulmonary artery (ALCAPA) syndrome is a rare congenital coronary artery malformation with a high rate of clinical missed diagnosis and misdiagnosis. At present, there is a lack of reports on the clinical manifestations of ALCAPA and the imaging features of coronary computed tomography angiography (CTA). This study aims to summarize the clinical characteristics and coronary CTA imaging features of ALCAPA to improve the clinical diagnosis and treatment. METHODS: The clinical data of 24 ALCAPA syndrome patients were retrospectively collected, analyzed and summarized from January 1, 2013 to February 1, 2023 in the Second Xiangya Hospital of Central South University. According to the left and right coronary collateral circulation, the patients were classified into infantile type (7 cases) and adult type (17 cases). The differences of clinical manifestations and CTA imaging features were compared between the 2 types of patients. RESULTS: Of the 24 patients, a male-to-female ratio was at 1꞉5, and the median age of onset was 3.22 months for the infant type and 22.0 years for the adult type. The infantile type showed symptoms of left heart insufficiency at an early stage, while the adult type had a variety of clinical manifestations in 7 patients being asymptomatic and presented with a cardiac murmur on physical examination, 6 with symptoms of chronic myocardial ischemia, and 2 with malignant arrhythmias. CTA showed that 11 patients' the left coronary artery originated from the left posterior sinus of the pulmonary artery. All 7 infantile type patients had an enlarged left heart, left ventricular hypertrophy, reduced left heart function, lack of collateral circulation between the left and right coronary arteries, and normal coronary artery diameter. All 17 adult type patients showed dilated and tortuous coronary arteries with rich collateral circulation, and 7 adult type patients had preserved left heart function. CONCLUSIONS: The clinical manifestations and CTA imaging features of patients with the 2 types of ALCAPA are different, while CTA performance is characteristic and can be used as a means of definitive diagnosis, staging, surgical evaluation, and postoperative follow-up of ALCAPA syndrome.

Double nutcracker syndrome in a patient with circumaortic venous ring: a rare case report.

Aim of the study: In this article, we describe a rare case of the nutcracker syndrome caused by combined compression of the left anteroaortic and retroaortic renal veins. Case description: A 42-year-old woman presented with microhematuria and left flank pain. The patient underwent computed tomography and Doppler ultrasound which showed the left renal veins with anteroaortic and retroaortic courses, with signs of compression. Compression of the anteroaortic renal vein was caused by a narrowing of the aortomesenteric space, whereas compression of the retroaortic renal vein was caused by a narrowing of the aortovertebral space. Conclusions: NCS is a rare disease, poorly understood and difficult to diagnose mainly due to the non-specificity of symptoms. Imaging is essential for diagnosis, and the combination of ultrasound and computed tomography allows for better classification of the disease. Increased disclosure of these cases can significantly contribute to a reduction of false negatives.

The Ultrasound Findings in a Rare Case of Nutcracker Syndrome, Wilkie's Syndrome, and Dunbar Syndrome Combination.

Vascular compression syndromes represent a group of rare and poorly understood diseases. Dunbar syndrome (DS) is caused by the median arcuate ligament of diaphragm originating lower than normal and causing compression of celiac artery. The Nutcracker is caused by the superior mesenteric artery (SMA) originating from aorta at an acute angle causing a restriction of aortomesenteric space that is traversed by the left renal vein and duodenum; if the compression involves only the left renal vein and becomes symptomatic it is called Nutcracker syndrome; if the symptomatic compression involves only the duodenum it is called Wilkie's syndrome or SMA syndrome. The knowledge of these rare pathologies is essential to reduce the false negatives which still remain very high; it is, therefore, necessary to promote greater knowledge as the lack of diagnosis can be very dangerous for the patient's health. We describe a rare case of a combination of DS, Nutcracker, and SMA or Wilkie's syndrome in a young patient.

Anterior and Posterior Nutcracker Syndrome Combined with May-Thurner Syndrome: First Report of This Unique Case.

BACKGROUND: Anterior nutcracker syndrome is defined as the compression of the left renal vein (LRV) between the superior mesenteric artery (SMA) and the aorta, whereas posterior nutcracker syndrome refers to the compression of the retroaortic LRV between the aorta and the vertebral column-the presence of the circumaortic left renal vein may predispose to "combined nutcracker syndrome". May-Thurner syndrome consists of obstruction of the left common iliac vein caused by the crossing right common iliac artery. We report a unique case of combined nutcracker syndrome associated with May-Thurner syndrome. CASE PRESENTATION: A 39-year-old Caucasian female came to our radiology unit for triple-negative breast cancer computed tomography (CT) staging. She complained of pain in hermid-back and low-back regions and intermittent abdominal pain in the left flank region. Multidetector computed tomography (MDCT) incidentally revealed a circumaortic left renal vein draining to the inferior vena cava, with bulbous dilatation of both the antero-superior and posterior-inferior branches, which was associated with pathological serpiginous dilation of the left ovarian vein with varicose pelvic veins. Axial CT imaging of the pelvis also showed compression of the left common iliac vein by the overlying right common iliac artery consistent with May-Thurner syndrome without signs of venous thrombosis. CONCLUSION: Contrast-enhanced CT is the best imaging modality for suspected vascular compression syndromes. CT findings showed a combination of anterior and posterior nutcracker syndrome in the left circumaortic renal vein, associated with May-Thurner syndrome, which has not previously been described in the literature.

What endocrinologists can do to prevent cardiovascular complications in adults with Prader-Willi syndrome: Lessons from a case series.

Context: Prader-Willi syndrome (PWS) is a complex rare genetic syndrome. Mortality in patients with PWS is 3% per year. In nearly half of the patients, the cause of death is of cardiopulmonary origin. Prevention, diagnosis and treatment of cardiovascular (CV) disease in PWS adults is complicated by the behavioral phenotype, reduced ability to express physical complaints, high pain threshold and obesity. Objective: To describe the challenges in prevention, diagnosis and treatment of CV disease in PWS adults, in order to increase awareness and improve medical care. Methods: Retrospective study of medical records of adults visiting the Dutch PWS reference center. Results: We describe the challenges encountered during diagnosis and treatment of four PWS adults with heart failure. All had pre-existent peripheral edema. CV risk factors in these patients were obesity (n=4), type 2 diabetes mellitus (n=2), hypertension (n=2), hypogonadism (n=3) and sleep apnea (n=2). Remarkably, all patients were younger than 40 years during their first cardiac decompensation. All patients presented with progressive shortness of breath and/or orthopnea and progressive pitting edema. In 117 controls with PWS without CV problems, 31% had leg edema. Conclusion: Diagnosing CV problems in PWS adults is challenging. Peripheral edema is common in PWS adults without CV morbidity, which makes edema in general a poor marker for heart failure. However, when edema is of the pitting kind and progressive, this is a strong predictor of cardiac decompensation. We provide practical recommendations for diagnosing and treating CV problems in this vulnerable patient population.

Seven cases of hereditary haemorrhagic telangiectasia-like hepatic vascular abnormalities associated with EPHB4 pathogenic variants.

BACKGROUND: EPHB4 loss of function is associated with type 2 capillary malformation-arteriovenous malformation syndrome, an autosomal dominant vascular disorder. The phenotype partially overlaps with hereditary haemorrhagic telangiectasia (HHT) due to epistaxis, telangiectases and cerebral arteriovenous malformations, but a similar liver involvement has never been described. METHODS: Members of the French HHT network reported their cases of EPHB4 mutation identified after an initial suspicion of HHT. Clinical, radiological and genetic characteristics were analysed. RESULTS: Among 21 patients with EPHB4, 15 had a liver imaging, including 7 with HHT-like abnormalities (2 female patients and 5 male patients, ages 43-69 years). Atypical epistaxis and telangiectases were noted in two cases each. They were significantly older than the eight patients with normal imaging (median: 51 vs 20 years, p<0.0006).The main hepatic artery was dilated in all the cases (diameter: 8-11 mm). Six patients had hepatic telangiectases. All kind of shunts were described (arteriosystemic: five patients, arterioportal: two patients, portosystemic: three patients). The overall liver appearance was considered as typical of HHT in six cases.Six EPHB4 variants were classified as pathogenic and one as likely pathogenic, with no specific hot spot. CONCLUSION: EPHB4 loss-of-function variants can be associated with HHT-like hepatic abnormalities and should be tested for atypical HHT presentations.

Two Cases of Bronchial Artery Racemose Hemangioma Successfully Treated with Bronchial Artery Embolization.

Rupture of a racemose hemangioma causing dilatation and tortuosity of the bronchial artery can result in massive bleeding and respiratory failure. Bronchial artery embolization (BAE) can treat this life-threatening condition, as we show in two cases. The first case was of an 89-year-old female complaining of sudden-onset chest and back pain. Bronchial artery angiography demonstrated a racemose hemangioma with a 2 cm aneurysm. The second case was of a 50-year-old male with hemoptysis and dyspnea, eventually requiring intubation. Bronchial arteriography showed a racemose hemangioma and a bronchial artery-pulmonary arterial fistula. BAE was successfully performed in both cases, with no recurrent hemorrhage. Therapeutic interventions in bronchial artery racemose hemangiomas include lobectomy or segmentectomy, bronchial arterial ligation, and BAE. BAE should be considered as first-line therapy for bleeding racemose hemangiomas of the bronchial artery because of its low risk of adverse effects on respiratory status, minimal invasiveness, and faster patient recovery.

Incidência e Estudo Morfológico de Pontes Miocárdicas no Estado do Ceará: Um Estudo Cadavérico / Incidence and Morphological Study of Myocardial Bridge in the State of Ceará: A Cadaveric Study

Resumo Fundamento As pontes miocárdicas (PM) são anomalias anatômicas com possíveis repercussões clínicas, e, portanto, seu entendimento merece atenção. Objetivo Para determinar a prevalência e caracterizar a PM em corações humanos do estado do Ceará. Métodos: Foram usados cinquenta corações de cadáveres humanos adultos da Faculdade de Medicina da Universidade Federal do Ceará, Brasil. Os corações foram dissecados para identificar PMs que passam sobre parte da artéria coronária. O segmento da artéria (proximal, médio e distal) com a ponte foi identificado. O diâmetro externo da artéria nos pontos proximal e distal da PM foi medido. O comprimento e a espessura da PM também foram medidos com um calibre eletrônico. O índice de massa muscular (IMM) da PM foi calculado como o produto do comprimento pela espessura expresso em milímetros. O nível de significância adotado para a análise estatística foi 5%. Resultados A PM foi confirmada em 40% da amostra. Aproximadamente um terço da amostra tinha apenas 1 PM. A PM foi encontrada mais frequentemente sobre o ramo interventricular anterior da artéria coronária esquerda (59,25%, p = 0,02), e sua prevalência em outros ramos foi muito mais baixa (22,23%). Os segmentos das artérias mais afetados foram o superior (44,44%) e o médio (40,74%). O diâmetro médio das artérias proximais em relação à PM foi de 2,38 ± 0,97 mm (intervalo = 0,78 - 5,15 mm), e o diâmetro distal da PM foi de 1,71 ± 0,75 mm (intervalo = 0,42 - 3,58 mm). O comprimento foi medido como média = 8,55 ± 5,27 mm, e a espessura média foi de 0,89 ± 0,33 mm. Conclusão A alta prevalência de PM tem mais probabilidade de afetar o sistema da artéria coronária esquerda com IMM maior do que outros ramos afetados.

Abstract Background Myocardial bridges (MB) are anatomical anomalies with possible clinical repercussions; hence, their understanding deserves attention. Objective To determinate the prevalence and characterize MB in human hearts from the state of Ceará. Methods: Fifty hearts of adult human cadavers from the Medicine School of Federal University of Ceará, Brazil. The hearts were dissected to identify MBs that pass over part of the coronary artery. The segment of the artery (proximal, middle, and distal) with a bridge was identified. The external diameter of the artery at the proximal and distal points of the MB was measured. The length and thickness of the MB were also measured with an electronic caliper. The muscle index (MMI) of the MB was calculated as the product of length and thickness expressed in millimeters. The significance level adopted in the statistical analysis was 5%. Results MB was confirmed in 40% of sample. Approximately one third of the sample had only 1 MB. MB was most frequently found over the anterior interventricular branch of the left coronary artery (59.25%, p=0.02), and its prevalence in other branches was much lower (22.23%). The most affected segments of arteries were the superior (44.44%) and medium (40.74%). The mean diameter of arteries proximal to the MB was 2.38±0.97mm (range=0.78-5.15mm), and the diameter distal to the MB was 1.71±0.75mm (range=0.42-3.58mm). The length was measured as mean=8.55±5.27mm, while the mean thickness was 0.89±0.33mm. Conclusion A high prevalence of MB is more likely to affect the left coronary artery system with larger MMI than other affected branches.