Cardiac Examination Research Articles

POCUS in the PICU: A Narrative Review of Evidence-Based Bedside Ultrasound Techniques Ready for Prime-Time in Pediatric Critical Care.

Point-of-care ultrasound (POCUS) is an accessible technology that can identify and treat life-threatening pathology in real time without exposing children to ionizing radiation. We aim to review current evidence supporting the use of POCUS by pediatric intensivists with novice-level experience with bedside ultrasound. Current evidence supports the universal adoption of POCUS-guided internal jugular venous catheter placement and arterial line placement by pediatric critical care physicians. Focused cardiac ultrasound performed by PICU physicians who have completed appropriate training with quality assurance measures in place can identify life-threatening cardiac pathology in most children and important physiological changes in children with septic shock. POCUS of the lungs, pleural space, and diaphragm have great potential to provide valuable information at the bedside after validation of these techniques for use in the PICU with additional research. Based on currently available evidence, a generalizable and attainable POCUS educational platform for pediatric intensivists should include training in vascular access techniques and focused cardiac examination. A POCUS educational program should strive to establish credentialing and quality assurance programs that can be expanded when additional research validates the adoption of additional POCUS techniques by pediatric intensive care physicians.

Monoarthritis as the initial presentation of acute rheumatic fever in Iran: A single-center retrospective cross-sectional study.

In Iran, there is a lack of information and studies on acute rheumatic fever (ARF), a global health issue. The limited understanding of ARF's prevalence and primary clinical symptoms has led to confusion. This research investigates the characteristics of children aged 3-17 years who experience ARF with monoarthritis as their initial symptom. A retrospective evaluation of medical records of children diagnosed with ARF was conducted. The study aimed to determine the prevalence of monoarthritis as the first manifestation of ARF and its association with age, gender, family history, and cardiac involvement. Categorical variables were analyzed using the chi-square test with a significance level of < 0.05 and a confidence interval of 95%, using SPSS software (Version 23). The study included 62 patients with ARF, comprising 41 (66.1%) boys with an average age of 8.48±3.27 years. Among these patients, 12 exhibited cardiac involvement according to the revised Jones criteria, with 5 clinical carditis and 7 cases of subclinical carditis. Monoarthritis was the initial symptom in seven patients (11.29%); five (71.4%) also had carditis. There was a significant association (p<0.001) between monoarthritis and carditis. The study concludes that monoarthritis may be an early sign of ARF in children and correlates significantly with cardiac involvement. However, more extensive research with more significant participant numbers is necessary to understand ARF in Iran comprehensively. A thorough cardiac examination is also crucial for patients with ARF and monoarthritis.

Simulation-based dataset acquisition for robotic cardiac ultrasound examinations

Over the past decade, automating ultrasound scanning has been the subject of intense research. However, training a robot to perform automated ultrasound examinations requires a substantial corpus of training data. Traditionally, researchers have sought to obtain such data either through publicly available datasets or by engaging professional sonographers in experiments aimed at dataset generation. The former approach often yields incomplete datasets insufficient for specialized research objectives, while the latter entails logistical challenges, including the necessity for frequent manual experimentation and ready access to medical professionals. Therefore, the acquisition of a comprehensive and suitable dataset remains an essential yet formidable challenge. Here, we propose a novel framework for achieving the automated acquisition of cardiac ultrasound datasets by controlling robot behaviour using a digital twin within a simulated environment. This framework consists of two modules: physical and virtual. Within the virtual simulation module, diverse body models of varying dimensions can be inputted, enabling the planning of robot arm path and ultrasound scanning manoeuvrers. Then the physical robot arm clones the actions of the robot in the simulation environment and updates its current state in the virtual module. The proposed framework was used to collect 43,000 cardiac ultrasound images from 8 patients with different pathologies and 1 healthy individual using a KUKA LBR Med robot and Intelligent Ultrasound Simulator. It is also expected to be feasible for a real-person dataset collection.

Native myocardial T1 mapping: influence of spatial resolution on quantitative results and reproducibility.

Myocardial mapping techniques can be used to quantitatively assess alterations in myocardial tissue properties. This study aims to evaluate the influence of spatial resolution on quantitative results and reproducibility of native myocardial T1 mapping in cardiac magnetic resonance imaging (MRI). In this cross-sectional study with prospective data collection between October 2019 and February 2020, 50 healthy adults underwent two identical cardiac MRI examinations in the radiology department on the same day. T1 mapping was performed using a MOLLI 5(3)3 sequence with higher (1.4 mm × 1.4 mm) and lower (1.9 mm × 1.9 mm) in-plane spatial resolution. Global quantitative results of T1 mapping were compared between high-resolution and low-resolution acquisitions using paired t-test. Intra-class correlation coefficient (ICC) and Bland-Altman statistics (absolute and percentage differences as means ± SD) were used for assessing test-retest reproducibility. There was no significant difference between global quantitative results acquired with high vs. low-resolution T1 mapping. The reproducibility of global T1 values was good for high-resolution (ICC: 0.88) and excellent for low-resolution T1 mapping (ICC: 0.95, P=0.003). In subgroup analyses, inferior test-retest reproducibility was observed for high spatial resolution in women compared to low spatial resolution (ICC: 0.71 vs. 0.91, P=0.001) and heart rates >77 bpm (ICC: 0.53 vs. 0.88, P=0.004). Apical segments had higher T1 values and variability compared to other segments. Regional T1 values for basal (ICC: 0.81 vs. 0.89, P=0.023) and apical slices (ICC: 0.86 vs. 0.92, P=0.024) showed significantly higher reproducibility in low-resolution compared to high-resolution acquisitions but without differences for midventricular slice (ICC: 0.91 vs. 0.92, P=0.402). Based on our data, we recommend a spatial resolution on the order of 1.9 mm × 1.9 mm for native myocardial T1 mapping using a MOLLI 5(3)3 sequence at 1.5 T particularly in individuals with higher heart rates and women.

Prevalence of Gaucher Disease in Patients with Unknown Cause of Splenomegaly and/or Thrombocytopenia in Saudi Arabia

Background: Many uncommon metabolic disorders have a high prevalence in Arab countries due to the high rate of consanguineous marriages. This study aimed to assess the prevalence of Gaucher disease in patients with splenomegaly and/or thrombocytopenia of unknown cause in Saudi Arabia. Methods: This screening study was conducted in 13 hematology and hematopathology centers in Saudi Arabia over two years. Patients with splenomegaly and/or thrombocytopenia of unknown cause for at least a year were included. Enzyme activity in eligible patients was assessed using dried blood spot samples. Results: Out of 390 patients, 87.4% had thrombocytopenia. In comparison, 8.8% had a history of splenectomy, and nearly 67.7% had splenomegaly. Fatigue, bone crises, and abdominal pain were commonly reported among adult patients. Anemia was the most common symptom among pediatric patients, followed by splenomegaly and easy bruising or bleeding. One patient was found to have Gaucher disease. She was a Saudi toddler with no family history of Gaucher disease, acid sphingomyelinase deficiency, or other genetic abnormalities. The Gaucher disease patient&amp;apos;s neurological, cardiac, and skeletal examinations were normal. Conclusion: This screening study paves the way for Gaucher disease screening in Saudi Arabia. It also emphasizes the importance of early diagnosis, proper care, and positive outcomes for Gaucher disease.

Hearables: feasibility of recording cardiac rhythms from single in-ear locations.

The ear is well positioned to accommodate both brain and vital signs monitoring, via so-called hearable devices. Consequently, ear-based electroencephalography has recently garnered great interest. However, despite the considerable potential of hearable based cardiac monitoring, the biophysics and characteristic cardiac rhythm of ear-based electrocardiography (ECG) are not yet well understood. To this end, we map the cardiac potential on the ear through volume conductor modelling and measurements on multiple subjects. In addition, in order to demonstrate real-world feasibility of in-earECG, measurements are conducted throughout a long-time simulated driving task. As a means of evaluation, the correspondence between the cardiac rhythms obtained via the ear-based and standard Lead I measurements, with respect to the shape and timing of the cardiac rhythm, is verified through three measures of similarity: the Pearson correlation, and measures of amplitude and timingdeviations. A high correspondence between the cardiac rhythms obtained via the ear-based and Lead I measurements is rigorously confirmed through agreement between simulation and measurement, while the real-world feasibility was conclusively demonstrated through efficacious cardiac rhythm monitoring during prolonged driving. This work opens new avenues for seamless, hearable-based cardiac monitoring that extends beyond heart rate detection to offer cardiac rhythm examination in the community.

Evaluation of plasma atrial natriuretic peptide concentration in healthy bottlenose dolphins (Tursiops truncates).

There are currently no standard methods for diagnosing cardiac diseases in dolphins. These diseases may consequently be overlooked and go undiagnosed. The presence and severity of cardiac diseases in humans can be determined using blood tests. Atrial natriuretic peptide (ANP) used in human cardiac examinations has low species specificity. There have already been reports of homology between dolphin and human ANP; however, its potential for clinical application in dolphins has not been tested. This study was conducted to establish a reference for ANP levels in healthy bottlenose dolphins. Healthy bottlenose dolphins (seven females; estimated to be 7-30 years of age) at an aquarium in Japan were sampled. Each animal was tested for ANP at least three times, and the mean value and standard deviation were calculated to be 43.4 ± 19.2 pg/mL. In humans, patients with high plasma ANP levels have a poor prognosis. In veterinary medicine, cutoff values for the diagnosis of mitral regurgitation and heart failure in dogs have been established and used to predict prognosis. The results of the present study may contribute to the health management of bottlenose dolphins, particularly in the early detection and treatment of cardiac diseases.

The importance of patient characteristics, operators, and image quality for the accuracy of heart failure diagnosis by general practitioners using handheld ultrasound devices.

To evaluate whether the characteristics of patients, operators, and image quality could explain the accuracy of heart failure (HF) diagnostics by general practitioners (GPs) using handheld ultrasound devices (HUDs) with automatic decision-support software and telemedical support. Patients referred to an outpatient cardiac clinic due to symptoms indicating HF were examined by one of five GPs after dedicated training. In total, 166 patients were included [median (inter-quartile range) age 73 (63-78) years; mean ± standard deviation ejection fraction 53 ± 10%]. The GPs considered whether the patients had HF in four diagnostic steps: (i) clinical examination, (ii) adding focused cardiac HUD examination, (iii) adding automatic decision-support software measuring mitral annular plane systolic excursion (autoMAPSE) and ejection fraction (autoEF), and (iv) adding telemedical support. Overall, the characteristics of patients, operators, and image quality explained little of the diagnostic accuracy. Except for atrial fibrillation [lower accuracy for HUD alone and after adding autoEF (P < 0.05)], no patient characteristics influenced the accuracy. Some differences between operators were found after adding autoMAPSE (P < 0.05). Acquisition errors of the four-chamber view and a poor visualization of the mitral plane were associated with reduced accuracy after telemedical support (P < 0.05). The characteristics of patients, operators, and image quality explained just minor parts of the modest accuracy of GPs' HF diagnostics using HUDs with and without decision-support software. Atrial fibrillation and not well-standardized recordings challenged the diagnostic accuracy. However, the accuracy was only modest in well-recorded images, indicating a need for refinement of the technology.

The Performance Characteristics of Handheld, Non-Piezoelectric Point-of-Care Ultrasound (POCUS) in the Emergency Department.

The use of handheld point-of-care ultrasound (HH-POCUS) platforms is rapidly increasing, but the diagnostic performance of HH-POCUS in the emergency department (ED) has not been well-studied. For a period of one year, only a HH-POCUS system that uses a non-piezoelectric array (Butterfly iQ+™) was available for clinical POCUS examinations in our ED. We performed a retrospective observational study of patients who underwent cardiac, thoracic, renal, biliary, or lower extremity venous (DVT) examinations from November 2021-November 2022 and calculated performance characteristics of HH-POCUS relative to radiology imaging. A total of 381 HH-POCUS studies were evaluated. Cardiac image quality was significantly lower than lung (p = 0.002). Over half of the studies (213/381) had imaging available for comparison, and HH-POCUS identified 86.5% (32/37, (95%CI) 70.4-94.9) of prespecified emergent diagnoses, including acute cholecystitis, severely reduced left ventricular ejection fraction, pericardial effusion or tamponade, moderate or larger pleural effusion, pneumothorax, moderate or larger hydronephrosis, and DVT. For less emergent diagnoses, 84.3% (43/51, (95%CI) 70.9-92.5) were identified. Overall, HH-POCUS using a non-piezoelectric array showed modest real-world performance in the ED for cardiac, thoracic, renal, biliary, and DVT examinations. HH-POCUS may be inadequate to rule out some common ED diagnoses, but had good specificity for certain conditions such as pericardial effusion.

Management of Patients with Ischemic Heart Disease in Spine Surgery.

In ischemic heart disease (IHD), the myocardium does not receive enough blood and oxygen. Although the IHD-related mortality rate is decreasing, the risk remains and is a major predictor of cardiac complications following noncardiac surgery. Given the increase in the older population, the number of patients with spinal diseases requiring surgery is increasing. Among these patients, those with underlying IHD or a high risk of cardiac complications before and after surgery are also increasing. Given that cardiac complications following spinal surgery are associated with delayed patient recovery and even death, spinal surgeons should be knowledgeable about overall patient management, including medication therapy in those at high risk of developing perioperative cardiac complications for successful patient care. Before surgery, the underlying medical conditions of patients should be evaluated. Patients with a history of myocardial infarction should be checked for a history of surgical treatments, and the anticoagulant dose should be controlled depending on the surgery type. In addition, the functional status of patients must be examined before surgery. Functional status can be assessed according to the metabolic equivalent of task (MET). More preoperative cardiac examinations are needed for patients who are unable to perform four METs in daily because of the high risk of postoperative cardiac complications. Patients with a history of IHD require appropriate preoperative management and further postoperative evaluation. When considering surgery, spinal surgeons should be knowledgeable about patient care before and after surgery.

Analysis of Scattered Radiation Dose in Cardiac Catheterization Examination in the Cathlab Room Using TLD

The problem: About 75% of the information humans receive visually or through the eyes. However, the eye cannot detect all types of light, including X-ray radiation. There are parts of the human body organs are very sensitive to X-ray radiation, because of the risk of damaging tissues and triggering causing ery, infertility or cataracts. Today, X-rays have become the backbone of the development of radiology equipment, especially for producing. One of them is C-Arm equipment technology, which is able to image three-dimensional patient objects in real time with fluoroscopy techniques. This study aims to obtain and evaluate the effective radiation dose received by medical personnel working in the cathlab room area when radiation workers during cardiac catheterization is performed. Observations were made in 10 radiation measurement areas, namely the radiographer operator area, the area in and out of medical personnel, the area in and out of patients, the Pb glass area in the operator room, the Pb glass area in the Cathlab examination room, the area where TLD measurements are placed waist-high doctors, nurses and radiographers work during the installation of the heart ring, the floor area near the X-ray source, and the wall area in the Cathlab examination room. The main tool uses C-Arm modality, and TLD detector chips. The object of observation is the radiation source area consisting of one doctor, one radiographer and one nurse. Catheterization was performed on 10 patients with different examination times. Research results: operator area; the effective dose received was 0.000 mSv, doctors ranged from 1.136 to 3.608 mSv, while nurses ranged from 0.194 mSv to 2.270 mSv, while radiographers ranged from 0.074 mSv to 0.126 mSv, while patient entrance and exit areas ranged from 0.00 mSv to 0.0127 mSv, while nurses in and out of medical personnel ranged from 0.005 mSv to 0.057 mSv, Measurements on the floor near the radiation source/floroscopy range from 0.036 mSv to 0.074 mSv. Cathlab indoor wall measurement results range from 0.031 mSv to 0.103 mSv. Within 1 year, the dose in the operator room is 0.00 mSv, the dose received by doctors ranges from 230.4 to 1209.5 mSv/hour, radiographers between 128.2 mSv to 1812.4 mSv and nurses between 115.2 mSv to 2448.2 mSv. In the area of the patient entrance and exit between 0.00 mSv to 38.8 mSv, the area of the patient entrance and exit between 72.00 mSv to 82.2 mSv, and the floor area near the radiation source/floroscopy between 518.2 mSv to 1065.2 mSv, as well as the inner wall area of the cathlab chamber between 44.6 mSv to 148.32 mSv. It was found that; The effective dose received in one year received by doctors, nurses and radiographers who work close to radiation sources (floroscopy) results are higher than the dose value set by PERKA BAPETEN No. 8 of 2011 which is 20 mSv and ICRP 203 which is 500 mSv per year.

Diagnostic value of 3D volume measurement of central pulmonary artery based on CTPA images in the pulmonary hypertension

BackgroundThis retrospective study aims to evaluate the diagnostic value of volume measurement of central pulmonary arteries using computer tomography pulmonary angiography (CTPA) for predicting pulmonary hypertension (PH).MethodsA total of 59 patients in our hospital from November 2013 to April 2021 who underwent both right cardiac catheterization (RHC) and CTPA examination were included. Systolic pulmonary artery pressure (SPAP), mean PAP (mPAP), and diastolic PAP (DPAP) were acquired from RHC testing. Patients were divided into the non-PH group (18 cases) and the PH group (41 cases). The diameters of the main pulmonary artery (DMPA), right pulmonary artery (DRPA), and left pulmonary artery (DLPA) were measured manually. A 3D model software was used for the segmentation of central pulmonary arteries. The cross-sectional areas (AMPA, ARPA, ALPA) and the volumes (VMPA, VRPA, VLPA) were calculated. Measurements of the pulmonary arteries derived from CTPA images were compared between the two groups, and correlated with the parameters of RHC testing. ROC curves and decision curve analysis (DCA) were used to evaluate the benefit of the three-dimensional CTPA parameters for predicting PH. A multiple linear regression model with a forward-step approach was adopted to integrate all statistically significant CTPA parameters for PH prediction.ResultsAll parameters (DMPA, DRPA, DLPA, AMPA, ARPA, ALPA, VMPA, VRPA, and VLPA) of CTPA images exhibited significantly elevated in the PH group in contrast to the non-PH group (P < 0.05), and showed positive correlations with the parameters of RHC testing (mPAP, DPAP, SPAP) (r ranged 0.586~0.752 for MPA, 0.527~0.640 for RPA, and 0.302~0.495 for LPA, all with P < 0.05). For the MPA and RPA, 3D parameters showed higher correlation coefficients compared to their one-dimensional and two-dimensional counterparts. The ROC analysis indicated that the VMPA showed higher area under the curves (AUC) than the DMPA and AMPA without significance, and the VRPA showed higher AUC than the DRPA and ARPA significantly (DRPA vs. VRPA, Z = 2.029, P = 0.042; ARPA vs. VRPA, Z = 2.119, P = 0.034). The DCA demonstrated that the three-dimensional parameters could provide great net benefit for MPA and RPA. The predictive equations for mPAP, DPAP, and SPAP were formulated as [8.178 + 0.0006 * VMPA], [1.418 + 0.0005 * VMPA], and [-11.137 + 0.0006*VRPA + 1.259 * DMPA], respectively.ConclusionThe 3D volume measurement of the MPA and RPA based on CTPA images maybe more informative than the traditional diameter and cross-sectional area in predicting PH.

Differentiating age and sex in vertebral body CT scans – Texture analysis versus deep learning approach

The automated analysis of computed tomography (CT) scans of vertebrae, for the purpose of determining an individual's age and sex constitutes a vital area of research. Accurate assessment of bone age in children facilitates the monitoring of their growth and development. Moreover, the determination of both age and sex has significant relevance in various legal contexts involving human remains. We have built a dataset comprising CT scans of vertebral bodies from 166 patients of diverse genders, acquired during routine cardiac examinations. These images were rescaled to 8-bit data, and textural features were computed using the qMaZda software. The results were analysed employing conventional machine learning techniques and deep convolutional networks. The regression model, developed for the automatic estimation of bone age, accurately determined patients' ages, with a mean absolute error of 3.14 years and R2 = 0.79. In the context of classifying patient gender through textural analysis supported by machine learning, we achieved an accuracy of 69 %. However, the application of deep convolutional networks for this task yielded a slightly lower accuracy of 59 %.

Image quality and technical limitations in emergency department cardiac point-of-care ultrasound: A retrospective cohort study.

To assess the image quality and common technical limitations seen on cardiac point-of-care ultrasound (POCUS) performed and archived in a single New Zealand ED. A retrospective cohort study of clinically indicated cardiac POCUS, archived from 1 October 2019 to 20 May 2020. Archived examinations were retrospectively reviewed by an ED POCUS expert, and an expert cardiac sonographer to determine diagnostic image quality, technical limitations present and opportunities for image quality improvement. Image quality of credentialed examinations was compared to uncredentialed examinations and examinations that were undocumented in the medical record. A total of 211 cardiac POCUS examinations were included. The impact of image quality on diagnostic interpretation was only documented in <2% of examinations. There was no difference in median global image quality scores for uncredentialed and credentialed examinations (8.5 vs 9, P = 0.55) and median score for undocumented examinations (5.5) was lower than credentialed examinations (P < 0.01). Common technical limitations identified were off-axis imaging and artefacts limiting image quality. In the present study of clinically indicated cardiac POCUS, low image quality was common but the impact of image quality on diagnostic interpretation was very rarely documented in the medical record. Local quality assurance and training should be directed at credentialed and uncredentialed clinicians including strategies to improve off-axis imaging and managing artefacts where possible. Standardised documentation of image quality that may impact diagnostic accuracy should be encouraged.

MRI Quantification of Cardiac Structure and Function in Cardiomyopathy Patients.

Cardiac Magnetic Resonance Imaging (CMRI) is a quantitative technique that enables non-invasive assessment of heart structure and contractile function as well as the mechanisms underlying cardiovascular disease. Here we provide step-by-step instructions and imaging protocols for conducting cardiac MRI exam on the patients with cardiomyopathies. Our imaging protocols are specific to the 3Tesla magnetic field strength.

Free-floating left atrial thrombi with acquired protein C deficiency in hepatitis

Abstract A 43-year-old woman with a recent history of confirmed hepatitis B presented with yellow sclera and dyspnea. Clinically, she had tachycardia and tachypnea as well as signs of jaundice and right upper quadrant pain. She was in sinus rhythm with a normal aspect of cardiac examination. She was treated with corticosteroids and her symptoms were partially relieved, however, her mild fever remained unchanged and a transthoracic echocardiogram (TTE) and transesophageal echocardiography (TEE) were done to rule out embolic or in situ infective endocarditis. Images from the TEE and TTE showed a ping-pong-like clot in the left atrium with a normal cardiac function and a normal mitral valve function. The mitral leaflets appeared to be normal with no regurgitation, and no clot was noted in other chambers or valves, including the atrial appendages. A differential diagnosis of infective vegetations, clots, or tumors was considered. The three subsequent blood cultures were negative. A complete thrombophilia assay revealed a severe reduced protein C factor, however, the IgG anti cardiolipin and lupus anticoagulant were normal. The woman’s anti-nuclear antibody and anti-double-stranded DNA were negative, confirming the diagnosis of acquired protein C deficiency. The patient underwent an open surgical removal of the clot and postoperative treatment with steroids, warfarin, and heparin. The postoperative course was uneventful, and the patient was discharged on the 13th day of operation in good condition. This case was interesting because we did not find any mitral valve pathology such as mitral stenosis, or arrhythmia like atrial fibrillation.

Simultaneous bilateral pulmonary and cardiac invasion of metastatic testicular germ cell tumor: A rare case report

AbstractA 23‐year‐old man with a history of a testicular germ cell tumor (GCT) that was incompletely treated, is presented with dyspnea. Significant bilateral pulmonary masses were seen on computed tomography (CT). A large, hypermobile mass in the left atrium (LA) as well as mitral valve dysfunction and moderate pulmonary hypertension was detected by transthoracic echocardiography (TTE). Urgent cardiac surgery was performed to prevent the tumor embolism in addition to restore mitral valve function and reduce pulmonary hypertension. Pathologic reports confirmed testicular GCT. GCT metastasis to the heart and lungs is an incredibly rare phenomenon. To our knowledge, this is the first case of simultaneous GCT metastasis to both lungs and LA. This article highlights the importance of cardiac examinations and imaging in germ cell tumor patients. If there is a functional complication for vital organs such as the heart or lungs, surgical interventions are given priority before starting chemotherapy.

The Importance of Serial POCUS Exams – Dual Pathologies in Play

Serial point of care ultrasound (POCUS) exams are essential to assess acute pericardial effusions which can rapidly evolve into cardiac tamponade. A typical presentation includes dyspnea, tachycardia, and chest pain. Importantly, serial cardiac exams in such high-risk patients can detect other concurrent pathologies. We present an unusual case of a patient who initially presented with an acute circumferential pericardial effusion and upon serial POCUS exams developed an unexpected Takotsubo cardiomyopathy in the setting of cardiac tamponade.

Clinical phenotype and genetic analysis of patients with left ventricular noncompaction caused by the biallelic mutation of MYBPC3 and MYH7

Objective: To explore the relationship between pathogenic gene, mutation and phenotype of left ventricular noncompaction (LVNC) patients and their family members. Methods: The subjects were the proband with LVNC and her family members. The medical history including electrocardiogram, echocardiography and cardiac magnetic resonance examination of the proband and family members were collected. Whole exome sequencing of the proband was performed, bioinformatics analysis focused on the genes related to hereditary cardiomyopathy. Candidate pathogenic sites were validated by Sanger sequencing. The clinical interpretation of sequence variants were classified according to American College of Medical Genetics and Genomics (ACMG) guidelines. Results: The proband carried a heterozygous variation of the MYBPC3 gene c.C2827T and the MYH7 gene c.G2221C. The proband's sister carried heterozygous variation of MYBPC3 gene c.C2827T. According to the ACMG guidelines, the variant was determined to be pathogenic. Conclusion: The missense variant of MYBPC3 gene c.C2827T and MYH7 gene c.G2221C are identified from the proband with LVNC and her family member, which provides a genetic basis for clinical diagnosis and genetic counseling of the patients and the family members with LVNC.

Association of Coronary Collaterals and Myocardial Salvage Measured by Serial Cardiac Magnetic Resonance Imaging after Acute Myocardial Infarction.

Coronary collateral flow in angiography has been linked with lower mortality rates in patients with coronary artery disease. However, the relevance of the underlying mechanism is sparse. Therefore, we tested the hypothesis that in patients with acute myocardial infarction (AMI), relevant coronary collateral flow is associated with more salvaged myocardium and lower risk of developing heart failure. Patients with first AMI who received a percutaneous coronary intervention within 24 h after symptom onset were classified visually by assigning a Cohen-Rentrop Score (CRS) ranging between 0 (no collaterals) and 3 (complete retrograde filling of the occluded vessel). All 36 patients included in the analysis underwent cardiac magnetic resonance examination within 3 to 5 days after myocardial infarction and after 12 weeks. Patients with relevant collateral flow (CRS 2-3) to the infarct-related artery had significantly smaller final infarct size compared to those without (7 ± 4% vs. 20 ± 12%, p < 0.001). In addition, both groups showed improvement in left ventricular ejection fraction early after AMI, whereas the recovery was greater in CRS 2-3 (+8 ± 5% vs. +3 ± 5%, p = 0.015). In patients with first AMI, relevant collateral flow to the infarct-related artery was associated with more salvaged myocardium at 12 weeks, translating into greater improvement of systolic left ventricular function. The protective effect of coronary collaterals and the variance of infarct location should be further investigated in larger studies.