System Abnormalities Research Articles

Outcome of children with multicystic dysplastic kidney: Does involved side matter?

Multicystic dysplastic kidney (MCDK) is a common anomaly detected on antenatal ultrasound. We aimed to assess the profile of children with MCDK and to investigate whether the involved side has any effect on outcome. Thirty-nine patients with MCDK and 20 controls were enrolled. Patients who estimated glomerular filtration rate (eGFR) values over 90 mL/min/1.73 m2 were compared with controls. Comparison was made between the involved sides. MKDB was right-sided in 20 (51.3%) and left-sided in 19 (48.7%) patients. 33.3% had additional urinary tract abnormality, 10.2% had systemic abnormality. 82% showed contralateral kidney enlargement. 48.7% involuted, 17.9% underwent nephrectomy. 35.8% suffered from urinary tract infection (UTI). 5.1% had renal scarring (RS). 30% developed microalbuminuria. 12.8% complicated with hypertension. 17.9% progressed to chronic kidney disease (CKD). Hypertension was independent risk factor for developing CKD. Blood pressure, cystatin C and urine microalbumin/creatinine levels were increased, and eGFR values were decreased in patients compared to controls. No significant difference was found between the two sides for rates of involution, UTI, RS, nephrectomy, and additional abnormality. Cystatin C levels were higher on the right than left sides (p = .033). Children with MCDK predispose to renal deterioration even at normal eGFR values. Although cystatin C levels tended to increase in right-sided patients, the involved side seemed to have no significant effect on renal outcome. Hypertension was main determinant for progression to CKD in MCDK.

Relationship Between Children's Cognitive Function and Type 1 Diabetes Mellitus (T1DM): A Systematic Review

Background: Type 1 diabetes mellitus (T1DM) is the most common type of diabetes in children and is caused by various factors, including immune system abnormalities, genetic factors, and environmental influences. T1DM usually occurs in early to mid-childhood when an autoimmune process damages the pancreas's beta cells, producing insufficient insulin. Purpose: Review several studies on T1DM associated with cognitive decline in children. Methods: The study systematically reviews five articles from randomized controlled trials, focusing on the cognitive function of children with T1DM. It specifically explored the relationship between T1DM, cognitive deficits, and the impact of diabetic ketoacidosis on cognitive function in children. Results: This review included five articles from randomized controlled trials between 1999 and 2023, distributed across two nations. The studies included 1.579 children with T1DM or with Ketoacidosis diabetic. Sample testing with cognitive function measurements in each article. Discussion: Type 1 diabetes patients had milder to moderate cognitive deficits on a variety of neuropsychological tests compared with nondiabetic control subjects. These cognitive deficits are primarily related to mental processing speed, executive function, and memory. Summary: Children with T1DM, especially those with a history of diabetic ketoacidosis, exhibited mild to moderate cognitive deficits, particularly in mental processing speed, executive function, and memory. The review emphasized the potential impact of T1DM on children's cognitive development and academic performance, underscoring the need for early diagnosis and appropriate management to mitigate cognitive decline.

The effect of obesity on intraocular pressure in nonglaucomatous eyes

Some eye diseases like cataract, glaucoma, diabetic retinopathy, and age-related macular degeneration were reported to have potential relation to obesity. Obesity possesses an increased risk for both elevated intraocular pressure and systemic vascular abnormalities such as hypertension and arteriosclerosis.

Effects of Tulp4 deficiency on murine embryonic development and adult phenotype.

Genetically engineered mouse models have the potential to unravel fundamental biological processes and provide mechanistic insights into the pathogenesis of human diseases. We have previously observed that germline genetic variation at the TULP4 locus influences clinical characteristics in patients with myeloproliferative neoplasms. To elucidate the role of TULP4 in pathological and physiological processes in vivo, we generated a Tulp4 knockout mouse model. Systemic Tulp4 deficiency exerted a strong impact on embryonic development in both Tulp4 homozygous null (Tulp4-/-) and heterozygous (Tulp4+/-) knockout mice, the former exhibiting perinatal lethality. High-resolution episcopic microscopy (HREM) of day 14.5 embryos allowed for the identification of multiple developmental defects in Tulp4-/- mice, including severe heart defects. Moreover, in Tulp4+/- embryos HREM revealed abnormalities of several organ systems, which per se do not affect prenatal or postnatal survival. In adult Tulp4+/- mice, extensive examinations of hematopoietic and cardiovascular features, involving histopathological surveys of multiple tissues as well as blood counts and immunophenotyping, did not provide evidence for anomalies as observed in corresponding embryos. Finally, evaluating a potential obesity-related phenotype as reported for other TULP family members revealed a trend for increased body weight of Tulp4+/- mice. RESEARCH HIGHLIGHTS: To study the role of the TULP4 gene in vivo, we generated a Tulp4 knockout mouse model. Correlative analyses involving HREM revealed a strong impact of Tulp4 deficiency on murine embryonic development.

Acute intermittent porphyria (AIP) in 27 year old female patient- Case report

Acute Intermittent Porphyria (AIP) is the most common acute and probably the most common inherited porphyria. AIP is caused due to deficiency of hydroxymethylbilane synthase (HMBS). AIP is characterized by a classical triad of abdominal pain, central nervous system abnormalities and peripheral neuropathy. We report a case of 27 year old female patient with recurrent episodes of acute abdominal pain. Patient underwent all laboratory & imaging investigations at our centre.

Monogenic conditions and central nervous system anomalies: A prospective study, systematic review and meta-analysis.

Determine the incremental diagnostic yield of prenatal exome sequencing (pES) over chromosome microarray (CMA) or G-banding karyotype in fetuses with central nervous system (CNS) abnormalities. Data were collected via electronic searches from January 2010 to April 2022 in MEDLINE, Cochrane, Web of Science and EMBASE. The NHS England prenatal exome cohort was also included. Incremental yield was calculated as a pooled value using a random-effects model. Thirty studies were included (n=1583 cases). The incremental yield with pES for any CNS anomaly was 32% [95%CI 27%-36%; I2=72%]. Subgroup analysis revealed apparent incremental yields in; (a) isolated CNS anomalies; 27% [95%CI 19%-34%; I2=74%]; (b) single CNS anomaly; 16% [95% CI 10%-23%; I2=41%]; (c) more than one CNS anomaly; 31% [95% Cl 21%-40%; I2=56%]; and (d) the anatomical subtype with the most optimal yield was Type 1 malformation of cortical development, related to abnormal cell proliferation or apoptosis, incorporating microcephalies, megalencephalies and dysplasia; 40% (22%-57%; I2=68%). The commonest syndromes in isolated cases were Lissencephaly 3 and X-linked hydrocephalus. Prenatal exome sequencing provides a high incremental diagnostic yield in fetuses with CNS abnormalities with optimal yields in cases with multiple CNS anomalies, particularly those affecting the midline, posterior fossa and cortex.

Os odontoideum: database analysis of 260 patients regarding etiology, associated abnormalities, and literature review.

Since the first description of os odontoideum in 1886, its origin has been debated. Numerous case series and reports show both a possible congenital origin and origin from the secondary to craniovertebral junction (CVJ) trauma. We conducted a detailed analysis of 260 surgically treated cases to document the initial symptoms, age groups, radiographic findings, and associated abnormalities, aiming to enhance the confirmation of the etiology. A literature search (1970-2022) was performed to correlate our findings. A total of 260 patients underwent surgical management of a referral database of 520 cases (1978-2022). All patients were examined by plain radiography and myelotomography as needed until 1984, and since then, CT and MRI have been employed. History of early childhood (aged below 6 years) CVJ trauma was investigated, including obtaining emergency department's initial radiographs from the referral and subsequent follow-up. Associated radiographic and systemic abnormalities were noted, and the atlas development was followed. The age of the patients ranged from 4 to 68 years, mostly between 10 and 20 years. There were 176 males and 86 females. Orthotopic os odontoideum was identified in 24 patients, and 236 patients had dystopic os odontoideum. Associated abnormalities were found in 94 of 260 patients, with 73 exhibiting syndromic abnormalities and 21 having Chiari I malformation. Two sets of twins had spondyloepiphyseal dysplasia. Of 260 patients, 156 experienced early childhood trauma /. Among these, 54 initially presented with normal radiographs but later demonstrated anterior atlas hypertrophy. In addition, a smaller posterior C1 arch was observed, leading to the development of os odontoideum. Two children had initial CVJ trauma as documented by MRI, with subsequent classical findings of os odontoideum and atlas changes. Syndromic patients had an earlier presentation. The literature reviewed confirms the multifactorial etiology. The early presentation and associated abnormalities (such as Down syndrome, Klippel-Feil syndrome, Chiari I malformation, spondyloepiphyseal dysplasia, Morquio syndrome, and others) along with case reports documenting familial, hereditary, and twin presentations strongly support a congenital origin. Likewise, surgical complications are more prevalent in syndromic patients (40%) compared to 15% in other cases, as reported in the literature. The documentation of normal odontoid in early childhood trauma cases followed by the later development of os odontoideum provides evidence supporting trauma as an etiological factor. This process also involves vascular changes in both the atlas and the formation of os odontoideum. Associated abnormalities exhibit an earlier presentation and are only seen in cases with a non-traumatic origin.

Neurofibromin 1 mutations impair the function of human induced pluripotent stem cell-derived microglia.

Neurofibromatosis type 1 (NF1) is an autosomal dominant condition caused by germline mutations in the neurofibromin 1 (NF1) gene. Children with NF1 are prone to the development of multiple nervous system abnormalities, including autism and brain tumors, which could reflect the effect of NF1 mutation on microglia function. Using heterozygous Nf1-mutant mice, we previously demonstrated that impaired purinergic signaling underlies deficits in microglia process extension and phagocytosis in situ. To determine whether these abnormalities are also observed in human microglia in the setting of NF1, we leveraged an engineered isogenic series of human induced pluripotent stem cells to generate human microglia-like (hiMGL) cells heterozygous for three different NF1 gene mutations found in patients with NF1. Whereas all NF1-mutant and isogenic control hiMGL cells expressed classical microglia markers and exhibited similar transcriptomes and cytokine/chemokine release profiles, only NF1-mutant hiMGL cells had defects in P2X receptor activation, phagocytosis and motility. Taken together, these findings indicate that heterozygous NF1 mutations impair a subset of the functional properties of human microglia, which could contribute to the neurological abnormalities seen in children with NF1.

A Rare Case of Lung Hypoplasia, Cardiac Anomalies and Ovarian Tumour in a Patient with Mayer-Rokitansky-Küster-Hauser Syndrome

Hypoplasia of the lung is an uncommon congenital abnormality of the respiratory system in contrast to pulmonary agenesis. Mayer-Rokitansky-Küster-Hauser (MRKH) syndrome is the congenital absence of the upper two-thirds of the vagina and uterus with normal secondary sexual characteristics, ovary and normal karyotype. We report a 31-year-old female patient who presented in 2022 with cough with expectoration, left-side chest pain and breathlessness for 4 years to tertiary hospital, Puducherry, India. She was evaluated for amenorrhoea and diagnosed as MRKH syndrome and the patient underwent right-side oophorectomy for right ovarian torsion with a tumour. Computed tomography pulmonary angiogram and fiberoptic endoscopy were suggestive of left lung hypoplasia and the patient was advised symptomatic treatment for lung hypoplasia and planned for vaginoplasty for which she refused. Keywords: Pulmonary Hypoplasia; Infertility; Mullerian Aplasia; Left-Sided Superior Vena Cava; Case Report; India.

Complex genetic and semen examination in patients with the disomy Y

Background. Among the syndromes with aneuploidy on the sex chromosomes (gonosomes), the Y chromosome dysomy presents the mildest phenotypic manifestation. Most 47,XYY patients are not developed reproductive system abnormalities. Some of them have spermatogenesis defects and in-/subfertility, but the prevalence of male infertility in patients with dysomy Y, is not known. The causes and factors of phenotypic variability, fertility disorders, the spermatogenesis and semen characteristics in patients with dysomy Y have not been sufficiently studied.Aim. A comprehensive genetic examination, assessment of the state of spermatogenesis and spermatological defects in patients with dysomy Y.Materials and methods. We examined 25 men with Y-chromosome dysomy. The age of the patients was 32 ± 10 (14–59) years. Chromosome analysis was performed on cultured peripheral blood lymphocytes using a standard cytogenetic method with GTG-staining. Fluorescent in situ hybridization was performed to analyze X and Y chromosomes, gonosomal mosaicism, as well as to evaluate sperm aneuploidy. The Y chromosome microdeletions were detected by multiplex polymerase chain reaction. A standard semen analysis was performed in accordance with the recommendations of the WHO Guidelines (2010). Quantitative karyological analysis of immature germ cells from the ejaculate sediment was performed according to our own previously developed method.Results. Non-mosaic dysomy Y was diagnosed in 22 patients, including 21 men with karyotype 47,XYY, and one patient with additional chromosomal anomality (Robertson translocation) – karyotype 46,XYY,der(13;14)(q10;q10). XYY/XY mosaicism was revealed in two patients, one has a complex Y chromosome mosaicism with a complete the AZFc (b2/b4) deletion. Pathogenic Y chromosome microdeletions were not found in other patients. In one man, the presence of dysomy Y was suspected according to the results of quantitative fluorescent polymerase chain reaction, but according to the results of cytogenetic examination, the presence of an isodicentric chromosome Yq – karyotype 46,X,psu dic(Y)(p11.3) was detected. Using whole exome sequencing in one azoospermic patient, a heterozygous variant c.653G>A(p.Gly218Asp) was detected in the SYCP2 gene, which encodes one of the proteins of the synaptonemal complex.Azoospermia (n = 9, 45 %), oligoastenoteratozoospermia (n = 6, 39 %), asthenoteratozoospermia (n = 3, 17 %), and asthenozoospermia (n = 2, 11 %) were diagnosed among 20 semen analysed patients. The volume of ejaculate was 2.7 ± 1.7 (1.0–5.0) ml, the concentration and total number of spermatozoa was 14.9 ± 21.8 (0.0–66.25), 50.4 ± 77.7 (0.0–265.0) mil lions, respectively. Oligospermia was observed in 2 (10%) patients. The quantitative karyological analysis of immature germ cells allowed to detect cryptozoospermia in azoospermic patinents and defects of prophase I of meiosis.Fluorescent in situ hybridization analysis revealed increased sperm aneuploidy (gonosomal dysomy and nullisomy, dysomy 18 and 21).Conclusion. Most of infertile men with dysomy Y are non-mosaic, and characterized by defected spermatogenesis (non-obstructive azoospermia or oligozoospermia), due to meiotic arrest at prophase I. Pathogenic AZFc deletion was found in a patient with complex Y chromosome mosaicism. Additional genetic factors of male fertility and spermatogenesis defects were found in some patients, which may explain the phenotypic variability.

Idiopathic Short Stature - A Case Report

Short stature in childhood is the most common reason for referral to pediatric endocrinologists. Idiopathic short stature is defined as ³2 SD below the corresponding mean height for a given age, sex, and population in a child with a normal birth size and normal body proportions and without evidence of any systemic, endocrine, nutritional, or chromosomal abnormalities. ISS children have normal GH responses to stimulation test and GH therapy has approved for the treatment of children with ISS. A six-year-old girl presented with not growing well in comparison to other peers since 6 months of her age. Her WAZ was -4.5 SD, HAZ was -7.7 SD, and projected height is far below parental target height. Bone age was 2-3 year and growth hormone stimulation showed normal growth hormone secretion. Here we reported a six-yearold girl diagnosed as a case of non-familial ISS and treated with growth hormone. Diagnosis of Idiopathic short stature was done by exclusion of other causes of short stature and growth hormone therapy was indicated.
 BANGLADESH J CHILD HEALTH 2022; VOL 46 (1) : 28-29

Imbalance and gait impairment in Parkinson's disease: discussing postural instability and ataxia.

Gait and balance difficulties pose significant clinical challenges in Parkinson's disease (PD). The impairment of physiological mechanisms responsible for maintaining natural orthostatism plays a central role in the pathophysiology of postural instability observed in PD. In addition to the well-known rigidity and abnormalities in muscles and joints, various brain regions involved in the regulation of posture, balance, and gait, such as the basal ganglia, cerebellum, and brainstem regions like the pontine peduncle nucleus, are affected in individuals with PD. The recognition of the cerebellum's role in PD has been increasingly acknowledged. Cortical areas and their connections are associated with freezing of gait, a type of frontal lobe ataxia commonly observed in PD. Furthermore, impairments in the peripheral nervous system, including those caused by levodopatherapy, can contribute to gait impairment and imbalance in PD patients. Consequently, individuals with PD may exhibit frontal ataxia, sensory ataxia, and even cerebellar ataxia as underlying causes of gait disturbances and imbalance, starting from the early stages of the disease. The complex interplay between dysfunctional brain regions, impaired cortical connections, and peripheral nervous system abnormalities contributes to the multifaceted nature of gait and balance difficulties in PD. Understanding the intricate mechanisms is crucial for the development of effective therapeutic approaches targeting these specific deficits in PD.

Cardiac Autonomic Balance Is Altered during the Acute Stress Response in Adolescent Major Depression-Effect of Sex.

Autonomic nervous system (ANS) abnormalities are associated with major depressive disorder (MDD) already at adolescent age. The majority of studies so far evaluated parasympathetic and sympathetic branches of ANS individually, although composite indices including cardiac autonomic balance (CAB) and cardiac autonomic regulation (CAR) seem to measure ANS functioning more comprehensively and thus could provide better psychopathologies' predictors. We aimed to study CAB and CAR derived from high-frequency bands of heart rate variability and left ventricular ejection time during complex stress response (rest-Go/NoGo task-recovery) in MDD adolescents with respect to sex. We examined 85 MDD adolescents (52 girls, age: 15.7 ± 0.14 yrs.) and 80 age- and sex-matched controls. The MDD group showed significantly reduced CAB compared to controls at rest, in response to the Go/NoGo task, and in the recovery phase. Moreover, while depressed boys showed significantly lower CAB at rest and in response to the Go/NoGo task compared to control boys, depressed girls showed no significant differences in evaluated parameters compared to control girls. This study for the first time evaluated CAB and CAR indices in drug-naïve first-episode diagnosed MDD adolescents during complex stress responses, indicating an altered cardiac autonomic pattern (i.e., reciprocal sympathetic dominance associated with parasympathetic underactivity), which was predominant for depressed boys.

Incidence, risk assessment and prevention of sudden cardiac death in cardiomyopathies.

Cardiomyopathies are a significant contributor to cardiovascular morbidity and mortality, mainly due to the development of heart failure and increased risk of sudden cardiac death (SCD). Despite improvement in survival with contemporary treatment, SCD remains an important cause of mortality in cardiomyopathies. It occurs at a rate ranging between 0.15% and 0.7% per year (depending on the cardiomyopathy), which significantly surpasses SCD incidence in the age- and sex-matched general population. The risk of SCD is affected by multiple factors including the aetiology, genetic basis, age, sex, physical exertion, the extent of myocardial disease severity, conduction system abnormalities, and electrical instability, as measured by various metrics. Over the past decades, the knowledge on the mechanisms and risk factors for SCD has substantially improved, allowing for a better-informed risk stratification. However, unresolved issues still challenge the guidance of SCD prevention in patients with cardiomyopathies. In this review, we aim to provide an in-depth discussion of the contemporary concepts pertinent to understanding the burden, risk assessment and prevention of SCD in cardiomyopathies (dilated, non-dilated left ventricular, hypertrophic, arrhythmogenic right ventricular, and restrictive). The review first focuses on SCD incidence in cardiomyopathies and then summarizes established and emerging risk factors for life-threatening arrhythmias/SCD. Finally, it discusses validated approaches to the risk assessment and evidence-based measures for SCD prevention in cardiomyopathies, pointing to the gaps in evidence and areas of uncertainties that merit future clarification.

Targeting dopamine transporter to ameliorate cognitive deficits in Alzheimer's disease.

Alzheimer's disease (AD) is characterized by the pathologic deposition of amyloid and neurofibrillary tangles in the brain, leading to neuronal damage and defective synapses. These changes manifest as abnormalities in cognition and behavior. The functional deficits are also attributed to abnormalities in multiple neurotransmitter systems contributing to neuronal dysfunction. One such important system is the dopaminergic system. It plays a crucial role in modulating movement, cognition, and behavior while connecting various brain areas and influencing other neurotransmitter systems, making it relevant in neurodegenerative disorders like AD and Parkinson's disease (PD). Considering its significance, the dopaminergic system has emerged as a promising target for alleviating movement and cognitive deficits in PD and AD, respectively. Extensive research has been conducted on dopaminergic neurons, receptors, and dopamine levels as critical factors in cognition and memory in AD. However, the exact nature of movement abnormalities and other features of extrapyramidal symptoms are not fully understood yet in AD. Recently, a previously overlooked element of the dopaminergic system, the dopamine transporter, has shown significant promise as a more effective target for enhancing cognition while addressing dopaminergic system dysfunction in AD.

Multi-Slice Generation sMRI and fMRI for Autism Spectrum Disorder Diagnosis Using 3D-CNN and Vision Transformers.

Researchers have explored various potential indicators of ASD, including changes in brain structure and activity, genetics, and immune system abnormalities, but no definitive indicator has been found yet. Therefore, this study aims to investigate ASD indicators using two types of magnetic resonance images (MRI), structural (sMRI) and functional (fMRI), and to address the issue of limited data availability. Transfer learning is a valuable technique when working with limited data, as it utilizes knowledge gained from a pre-trained model in a domain with abundant data. This study proposed the use of four vision transformers namely ConvNeXT, MobileNet, Swin, and ViT using sMRI modalities. The study also investigated the use of a 3D-CNN model with sMRI and fMRI modalities. Our experiments involved different methods of generating data and extracting slices from raw 3D sMRI and 4D fMRI scans along the axial, coronal, and sagittal brain planes. To evaluate our methods, we utilized a standard neuroimaging dataset called NYU from the ABIDE repository to classify ASD subjects from typical control subjects. The performance of our models was evaluated against several baselines including studies that implemented VGG and ResNet transfer learning models. Our experimental results validate the effectiveness of the proposed multi-slice generation with the 3D-CNN and transfer learning methods as they achieved state-of-the-art results. In particular, results from 50-middle slices from the fMRI and 3D-CNN showed a profound promise in ASD classifiability as it obtained a maximum accuracy of 0.8710 and F1-score of 0.8261 when using the mean of 4D images across the axial, coronal, and sagittal. Additionally, the use of the whole slices in fMRI except the beginnings and the ends of brain views helped to reduce irrelevant information and showed good performance of 0.8387 accuracy and 0.7727 F1-score. Lastly, the transfer learning with the ConvNeXt model achieved results higher than other transformers when using 50-middle slices sMRI along the axial, coronal, and sagittal planes.

Abstract 18056: Transhepatic and Trans-Patent Foramen Ovale Ablation of Atrial Fibrillation in the Setting of Chronic Inferior Vena Cava Occlusion: Addressing Complex Anatomic Hurdles and Achieving Therapeutic Success

Background: Rhythm control for atrial fibrillation (AF) is the preferred approach for symptomatic patients, particularly those with reduced ejection fraction. Catheter ablation primarily consists of pulmonary vein isolation via a transseptal approach. In patients with chronic occlusion of inferior vena cava (IVC), surgical ligation of IVC, or congenital venous system abnormalities, conventional femoral venous access may not feasible. Case Report: A 78-year-old male with history of Hypertension, diabetes, coronary artery disease, bilateral DVTs s/p thrombectomy, prior IVC stenting, presented with persistent, symptomatic AF on apixaban. Given a moderately reduced EF of 40-45%, amiodarone intolerance, and contraindication to other AADs, he was referred for catheter ablation. CT venogram showed chronically occluded IVC with patent hepatic veins, therefore transhepatic access to the right atrium was obtained. Transesophageal echocardiography (TEE) was planned for transseptal puncture; however, this showed an incidental PFO. This PFO was easily engaged using a manual modification of a VersaCross transseptal sheath and after entering the left atrium, the sheath was exchanged with a bi-directional sheath (Vizigo). Using this single left atrial access, pulmonary vein isolation and posterior wall isolation were performed. The transhepatic access site was closed with coil embolization to prevent track bleeding (figure 1). Conclusion: We present a case where successful AF ablation was achieved via percutaneous transhepatic approach, with improvised utilization of a conveniently located PFO. This was guided by pre-operative CT, and intra-operative TEE which allowed us to minimize any transseptal puncture related complications. The utilization of a multidisciplinary team comprising electrophysiologists, advanced imaging cardiologists and interventional radiologists is invaluable in executing complex procedures of this nature.

Abstract 11592: The Great Imitator: A Case of Lyme Carditis Mimicking ST Elevation Myocardial Infarction

Background: In the US, approximately 476,000 patients are diagnosed with Lyme disease annually. 1 to 5 % of patients with Lyme disease have cardiac involvement, predominantly conduction system abnormalities, less frequently endocarditis, valvular heart disease, and myopericarditis. We present a case of acute Lyme carditis mimicking ST-segment elevation myocardial infarction (STEMI). Case Presentation: A 31-year-old female with no past medical history presented to the hospital with chest pain, fatigue and chills for one day. She had a blood pressure of 101/61 mmHg, a heart rate of 88/minute, was afebrile, and saturating 99% on room air. Labs revealed elevated troponin of 8712 pg/ml and elevated C-reactive protein of 30 mg/l. EKG showed sinus rhythm with HR of 84, normal axis with ST elevation in leads II, III, AVF, and reciprocal ST segment depression in leads I and AVL. Decision Making: STEMI code was activated, patient's cardiac catheterization did not show any occlusion or left ventricle apical ballooning. Transthoracic echocardiogram was normal with left ventricular ejection fraction of 55 to 60% without wall motion abnormalities. Myopericarditis workup revealed ELISA Lyme Immunoglobulin (Ig)M antibodies with a negative IgG antibodies. Western blot test was positive for IgM, suggesting acute Lyme carditis. Patient's chest pain resolved with Celecoxib and Colchicine and treated with intravenous antibiotics. Conclusion: Lyme carditis mimicking acute coronary syndrome is rarely described in the literature. Lyme carditis should be considered in differential diagnoses in patients presenting with signs of myocardial ischemia with normal cardiac catheterization.

Abstract 11916: An Elusive and Unusual Diagnosis of Cardiac Sarcoidosis

Introduction: Cardiac sarcoidosis (CS) can present heterogeneously; presentations are often related to conduction system abnormalities in the form of AV block or ventricular arrhythmia, or heart failure. There are not yet widely accepted diagnostic guidelines for CS although diagnostic pathways such as the Japanese Ministry of Health and Welfare and the Heart Rhythm Society criteria exist. Methods: A 65 year old female with a history of hypertension, HFpEF, CAD with remote DES to RCA, CKD3a, Obesity and biopsy proven pulmonary sarcoidosis presented with 3 days of sudden onset dyspnea and hypoxia. Labs included aa pro-BNP of 16,754 pg/mL (0-299) and high-sensitivity troponin of 35 ng/L (0-14). EKG showed sinus rhythm with left axis and QTc of 499 ms. Chest Xray revealed pulmonary edema consistent with heart failure exacerbation Echocardiogram revealed EF 60-64%, normal LV and RV wall motion and thickness, and GLS of-17.2%. Left heart catheterization revealed patent RCA stent and non-obstructive CAD. She was diuresed to euvolemic state. Inpatient cardiac monitoring, repeat EKGs, and an 8 day holter monitor showed no arrhythmia or conduction abnormality. Although clinical suspicion for CS was low due lack of arrhythmia, preserved EF and several independent risk factors for HFpEF. FDG-PET was performed to rule out CS and revealed defects in basal anteroseptal and apical lateral regions consistent with sarcoid related fibrosis (Figure 1). Disseminated disease was seen in mediastinal and splenic regions. The patient was started on prednisone and methotrexate therapy for immunosuppressive treatment of CS. Conclusions: In patients with known sarcoidosis, a high index of suspicion for CS is required due to lack of clear diagnostic guidelines. Although diagnostic criteria frequently highlight systolic heart failure and arrhythmias, CS can present in patients with HFpEF, and the presence of other risk factors for diastolic heart failure should not preclude CS investigation.

Abstract 18348: Causes and Predictors of 30-Day Readmissions Following Permanent Pacemaker Implantation in Patients With Cardiac Amyloidosis: From National Readmission Database (2016-2020)

Introduction: Cardiac amyloidosis (CA) is an infiltrative cardiomyopathy where local deposition of amyloid fibrils causes heart failure, arrhythmias, and conduction system abnormalities. Involvement of the AV nodal and infra-hisian conduction system increases the need for a permanent pacemaker (PPM). Studies have noted worse outcomes in patients with implantable-cardioverter defibrillator placement in amyloidosis, but a comparison with PPM is lacking. We sought to analyze readmissions in CA patients following PPM placement utilizing National Readmission Database (NRD). Methods: NRD (2016 to 2020) was queried to identify adults with a diagnosis of CA who underwent PPM implantation using ICD-10 CM and PCS codes. The primary outcome was a 30-day readmission rate. Secondary outcomes were in-hospital mortality, length of stay (LOS), total hospital charge (THC), and predictors of readmission. Multivariate/univariate logistic and linear regression analyses were used to analyze the outcomes and adjust for possible confounders. Results: A total of 1,027 encounters of CA who underwent PPM were identified, of which 975 were discharged alive. Within 30 days from discharge, 141 (14.5%) were readmitted. Those readmitted had a longer LOS and higher burden of comorbidities while were similar in age, sex, hospital characteristics, and household income status. Readmissions lead to an additional mean THC of $55,079 and a mean LOS of 6.3 days. The top five causes of readmissions were heart failure (23%), sepsis (6.6%), hypertensive heart disease (4%), bradycardia (3.5%), and acute kidney injury (3.2%). Figure-1 shows the forest plot of a multivariate analysis of independent factors associated with readmissions. Conclusions: Our findings show that up to 15% of patients with CA who undergo PPM implantation get readmitted with heart failure being the most common etiology. Optimizing comorbidities with PPM implantation in CA may provide better outcomes and reduce admissions.