System Malformations Research Articles

Cranial-Vertebral-Maxillary Morphological Integration in Down Syndrome.

Simple SummaryPhenotypic variability can be structured according to three interrelated components: developmental stability, morphological integration, and canalization. The cranium presents modular organization, consistent with the principles of morphological integration. In Down syndrome (DS), the most common genetic aneuploidy, the integration of the cranial-vertebral-maxillary complex, remains unknown. This study aimed to analyze whether there are significant relationships between the skull base, atlantoaxial joint, and maxillary-mandibular complex in a study group of 41 individuals with DS and nonsyndromic controls. Twenty-nine measurements were performed on each participant’s cone-beam computed tomography images, which were grouped into three blocks: atlantoaxial dimensions, craniovertebral dimensions, and cephalometric dimensions. With regard to the association between blocks, we found no significant relationship in the DS group. However, we confirmed a statistically significant correlation between all blocks of variables in the controls. In conclusion, these results confirm a very poor morphological integration of the cranial-cervical-maxillary complex in individuals with DS. This finding reinforces the proposal that gene overload enhances canalization, which could potentially affect the outcomes of certain orthopedic and surgical procedures.Background: Morphological integration refers to the tendency of anatomical structures to show correlated variations because they develop in response to shared developmental processes or function in concert with other structures. The objective of this study was to determine the relationships between the dimensions of different cranial-cervical-facial structures in patients with Down syndrome (DS). Methodology: The study group consisted of 41 individuals with DS who had undergone cone-beam computed tomography (CBCT) at the Dental Radiology Unit of the University of Santiago de Compostela (Spain). In the historical archive of this same unit, 41 CBCTs belonging to individuals with no known systemic disorders or severe malformations of the maxillofacial region were selected, forming an age and sex-matched control group. Twenty-nine measurements were performed on each participant’s CBCT images, which were grouped into three blocks: atlantoaxial dimensions, craniovertebral dimensions and cephalometric dimensions. To determine whether there were significant differences between the dimensions obtained in the DS and control groups, we applied multiple analysis of variance and linear discriminant analysis tests. The analysis of the association between blocks (in pairs) was performed with the canonical correlation analysis test. Results: The dimensions evaluated in the three blocks of variables of individuals with DS differ significantly from those of nonsyndromic controls (p < 0.001). The highest discriminative capacity to identify controls and patients with DS was obtained with the cephalometric dimensions (87.5%). With regard to the association between blocks (two-by-two measurements), we found no significant relationship in the DS group. However, we confirmed a statistically significant correlation between all pairs of blocks of variables in the controls, especially between the atlantoaxial and cephalometric dimensions (p < 0.001) and between the craniovertebral and cephalometric dimensions (p < 0.001). Conclusions: Our results confirm a very poor morphological integration of the cranial-cervical-maxillary complex in individuals with DS. This finding reinforces the proposal that gene overload enhances the channeling process.

Interstitial deletions of chromosome 1p: novel 1p31.3p22.2 microdeletion in a newborn with craniosynostosis, coloboma and cleft palate, and review of the genomic and phenotypic profiles

BackgroundRearrangements of unstable DNA sequences may alter the structural integrity or the copy number of dose-sensitive genes, resulting in copy number variations. They may lead more frequently to deletions, in addition to duplications and/or inversions, which are the underlying pathogenic mechanism of a group of conditions known as genomic disorders (or also contiguous gene syndromes). Interstitial deletions of the short arm of chromosome 1 are rare, and only about 30 patients have been reported. Their clinical features are variable, in respect of the extent of the deleted region. They include global developmental delay, central nervous system (CNS) malformations, craniosynostosis, dysmorphic face, ocular defects, cleft palate, urinary tract anomalies and hand/foot abnormalities.Case presentationHereby, we report on an Italian female newborn with craniosynostosis, facial dysmorphisms including bilateral microphthalmia and coloboma, cleft palate, and a severe global developmental and growth delay, associated to a 1p31.3p22.2 deletion of 20.7 Mb. This was inherited from the healthy mother, who was carrier of a smaller (2.6 Mb) deletion included within the centromeric region (1p22.3p22.2) of the same rearrangement, in addition to a translocation between chromosomes 1p and 4q. The deleted region of the proband contains about ninety genes. We focus on the genotype–phenotype correlations.ConclusionsThe results of the present study further confirm that microdeletions at 1p31.3 constitute a contiguous gene syndrome. It is hard to establish whether the critical rearrangement of such syndrome may involve the centromeric band p22.3p22.2, or more likely do not, also in light of the genomic profile of the healthy mother of our patient. Neonatologists and pediatricians should take into consideration 1p31 microdeletion in cases of developmental and growth delay associated to craniosynostosis, peculiar facial dysmorphisms, cleft palate and hand/foot abnormalities. The present report provides new data about 1p31 microdeletion syndrome, in view of a better characterization of its genomic and phenotypic profile.

Persistent aneurysmal vitelline vein with thrombus successfully managed with anticoagulation

Failure of the vitelline veins to regress as expected during embryonic development may lead to long-term consequences for neonatal patients. This case report describes a full-term infant born with a persistent vitelline vein, after prenatal ultrasound at 32 weeks suggested the presence of multiple venous system malformations. Postnatal imaging, including ultrasound and contrast computerized tomography (CT), confirmed a thrombus within the persistent vitelline vein, in addition to several hepatic embolic infarcts. Persistent aneurysmal vitelline vein with a thrombus is a rare diagnosis that has been previously managed with surgical interventions. This case demonstrates the multi-disciplinary decision to proceed with conservative medical management, and the subsequent resolution of both the thrombus and persistent vitelline vein with anticoagulation alone. • Previous case reports of persistent vitelline vein with thrombus suggest prompt surgical management • Our case showed resolution of vitelline vein thrombus and hepatic infarcts with anticoagulation alone. • Our case suggests the possiblity of conservative medical management in place of surgical management.

106 Pregnancy in women with multiple genitourinary anomalies: High incidence of adverse perinatal outcome?

Introduction and aims of the study: In cases of women diagnosed with Mullerian duct anomalies the presence of synchronous urinary system malformations is common. However, pregnancy in women with multiple genitourinary anomalies may be at high risk for adverse perinatal outcomes. The aim of this study was to describe an extremely rare case of pregnancy in a woman diagnosed with OHVIRA syndrome, which is characterized by an obstructed hemivagina, ipsilateral renal agenesis and uterine didelphys, trying to investigate the pathophysiology of preeclampsia in pregnancies complicated by unilateral renal agenesis.

Genetic Causes, Clinical Manifestations and Diagnosis of Central Nervous System Malformations with Emphasis on Corpus Callosum

The pathological processes of the central nervous system, intrinsic or extrinsic, occurring during the embryonic period are the most common cause of pregnancy termination. The defects of the neural tube which is primitive form of brain and spinal cord are the most common central nervous system (CNS) malformations. In some defects the fetus continues to develop and results in the birth of a child with sever mental and physical deficiencies. The corpus callosum is the largest white matter tract connecting the two cerebral hemispheres and permits the transfer of information between the two cerebral hemispheres. Its partial or complete agenesis is caused by abnormalities during embryonic development. The severity of symptoms varies widely depending on the degree of dysgenesis. Hypotonia, visual impairment, seizures, spasticity, motor co-ordination issues, and atypical facial features are common symptoms. In this review we focus on genetic causes, clinical manifestations and diagnosis of various malformations of central nervous system with special emphasis on Corpus Callosum.

Mild Phenotype of Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome 1 Caused by a Novel VPS33B Variant.

The arthrogryposis, renal dysfunction, and cholestasis syndrome (ARCS) is an autosomal recessive multisystem disease caused by variants in VPS33B or VIPAS39. The classical presentation includes congenital joint contractures, renal tubular dysfunction, cholestasis, and early death. Additional features include ichthyosis, central nervous system malformations, platelet dysfunction, and severe failure to thrive. We studied three patients with cholestasis, increased aminotransferases, normal gamma-glutamyl transferase, and developmental and language delay. Whole exome sequencing analysis identified VPS33B variants in all patients: patients 1 and 2 presented a novel homozygous variant at position c.1148T>A. p.(Ile383Asn), and patient 3 was compound heterozygous for the same c.1148T>A. variant, in addition to the c.940-2A>G. variant. ARCS is compatible with the symptomatology presented by the studied patients. However, most patients that have been described in the literature with ARCS had severe failure to thrive and died in the first 6 months of life. The three patients studied here have a mild ARCS phenotype with prolonged survival. Consequently, we believe that the molecular analysis of the VPS33B and VIPAS39 should be considered in patients with normal gamma-glutamyl transferase cholestasis.

Alobar Holoprosencephaly in an Aborted American Quarter Horse Fetus

Holoprosencephaly is a central nervous system malformation, characterized by incomplete or total lack of division of prosencephalon hemispheres, which is commonly accompanied by craniofacial malformations. A 9-month-gestation aborted American Quarter Horse fetus was submitted for postmortem examination. The fetus lacked haircoat and had severe facial malformations including marked shortening/absence of the maxillary, incisive and nasal bones, bilateral anophthalmia, and pre-maxillary agenesis. The prosencephalon was small and nearly spherical, represented by a single lobe, with no visible separation between cerebral hemispheres. The olfactory bulbs, piriform lobes, and the optic chiasm were absent. At cross sectioning of the prosencephalon, the inner structures of the brain were completely absent, and replaced by a monoventricle lined by the remaining compressed cortex, and the thalami were fused. Since mutations in the sonic hedgehog (SHH) gene have been associated with human holoprosencephaly, the three coding SHH exons were sequenced using liver DNA of the aborted foal. The obtained SHH sequence was similar to the Equus caballus SHH mRNA sequence deposited in Genbank (XM_023640069.1); therefore, no polymorphism in the coding region of this gene justifying the phenotype was observed. This is the first report of alobar holoprosencephaly in horses.

Pachygyria in a Saudi preteen female: A case report and review of literature

Pachygyria is a component of a spectrum of malformation of cerebral neuronal migration. MRI is a fundamental neuroimaging tool for adequate description of cerebral structural pathology. As a component of lissencephaly-pachygyria spectrum, there are severe intertwined clinical and pathological manifestations, with/without other brain and systemic malformations. Clinical features include protracted seizures, delay or absence of developmental milestones, and varying degrees of mental retardation. This is a case of a preteen with previous infantile seizures and delay in developmental milestones. Her MRI showed uncommon but classic “leopord” and “tigroid” appearances of deep white matter changes, as well as the typical shallow and few cerebral cortical sulci, as well as cortical thickening of pachygyria. Despite several established genetic mutations documented in various disorders of cerebral neural migration, there was however no genetic assay yet for the patient at the time of this publication. Keywords: pachygyria; lissencephaly; neuronal-migration; heterotopia.

A splice site mutation in the TSEN2 causes a new syndrome with craniofacial and central nervous system malformations, and atypical hemolytic uremic syndrome.

Recessive mutations in the genes encoding the four subunits of the tRNA splicing endonuclease complex (TSEN54, TSEN34, TSEN15, and TSEN2) cause various forms of pontocerebellar hypoplasia, a disorder characterized by hypoplasia of the cerebellum and the pons, microcephaly, dysmorphisms, and other variable clinical features. Here, we report an intronic recessive founder variant in the gene TSEN2 that results in abnormal splicing of the mRNA of this gene, in six individuals from four consanguineous families affected with microcephaly, multiple craniofacial malformations, radiological abnormalities of the central nervous system, and cognitive retardation of variable severity. Remarkably, unlike patients with previously described mutations in the components of the TSEN complex, all the individuals that we report developed atypical hemolytic uremic syndrome (aHUS) with thrombotic microangiopathy, microangiopathic hemolytic anemia, thrombocytopenia, proteinuria, severe hypertension, and end-stage kidney disease (ESKD) early in life. Bulk RNA sequencing of peripheral blood cells of four affected individuals revealed abnormal tRNA transcripts, indicating an alteration of the tRNA biogenesis. Morpholino-mediated skipping of exon 10 of tsen2 in zebrafish produced phenotypes similar to human patients. Thus, we have identified a novel syndrome accompanied by aHUS suggesting the existence of a link between tRNA biology and vascular endothelium homeostasis, which we propose to name with the acronym TRACK syndrome (TSEN2 Related Atypical hemolytic uremic syndrome, Craniofacial malformations, Kidney failure).

Evaluation of oxidant and antioxidant profile in amniotic fluid of pregnant sheep experimentally infected with bluetongue virus serotype-1

A study was carried out to ascertain the oxidant and antioxidant profile in amniotic fluid (AF) of pregnant Muzaffarnagari ewes infected with bluetongue virus serotype-1. Twenty-seven pregnant ewes were divided into three groups as control and two treatment groups. BTV-1 was inoculated into two treatment groups during early and mid-gestation at 35 days and 60 days, respectively. Animals were sacrificed at periodical intervals. Amniotic fluid was collected after resection of uterus and evaluated for lipid peroxidation, superoxide dismutase (SOD) and total antioxidant capacity (TAC). Lipid peroxidation showed elevation in infected groups (1.234 and 1.240 |jmol/ml in early and mid-gestation infected group, respectively) as compared to control (1.107 jmol/ml), whereas SOD and TAC decreased in infected groups (SOD: 0.895 and 0.898 U/L; TAP: 0.445 and 0.451 mM/L in early and mid-gestation infected group, respectively) as compared to control (SOD: 1.280 U/L; TAP: 0.664 mM/L). Malondialdehyde (MDA) levels decreased gradually from early to mid-gestation stage and increased towards late gestation. Antioxidant enzyme SOD and TAC increased towards late gestation in control group. MDA levels also increased and SOD and TAC decreased towards last trimester in both infected groups. Among, thirty-two foetuses retrieved, two foetuses showed cerebellar malformation such as general cerebellar hypoplasia and Purkinje cell dysplasia towards the late gestation in infected groups. It was concluded that BTV-1 added oxidative stress to foetal growth in the womb and responsible for central nervous system malformation. Thus, amniotic fluid could be the valuable diagnostic sample to evaluate oxidative biomarkers in viral induced central nervous system malformations in foetuses.

Profile of central nervous system malformations in children from a tertiary care center in southern India

Abstract Background: Malformations of the central nervous system (CNS) include a wide range of disorders characterized by neurodevelopmental delay and seizures. They are multifactorial in etiology. There is a lack of data in India; hence, this study was planned to study the clinical profile and type of CNS malformations in children. Materials and Methods: This is a retrospective chart review of CNS malformation between January 2018 and December 2018. Details of clinical and laboratory data were analyzed. Results: Of 110 cases, males were 65. The most common age group was 1–5 years accounting for 50%. Various clinical features were developmental delay (72), seizures (58), microcephaly (57), and dysmorphism (28). History of birth asphyxia was present in 12 cases. The various malformations were neuronal migration defects (36.36%); congenital hydrocephalus (24.54%), with aqueductal stenosis being the most common etiology; neural tube defects (13, 11.8%); and posterior fossa malformation (10 of which two were Joubert syndrome). Others were five cases of agenesis of corpus callosum, one case each of hemimegalencephaly and arteriovenous malformation, and four cases of complex mixed malformations. Conclusion: The most common presentation was global developmental delay and seizures. The most common malformation of CNS observed was neuronal migration defect followed by hydrocephalus. They can present as birth asphyxia.

The Protective Role of Vitamin E Against Teratogenic Effects of Nicotine on Embryonic Bone Development

Aim: According to World Health Organization data, around 1.5 billion people in the world use tobacco products. Nicotine, the most common use of tobacco, is the main psychoactive substance that causes addiction. Exposure to nicotine during pregnancy increases the risk of low placenta weight, stillbirth, congenital heart disease, musculoskeletal defect. Antioxidants are used to protect against teratogenic substances such as nicotine. The purpose of the study was to determine the skeletal system malformations caused by low (3 mg/kg) and high (6 mg/kg) doses of nicotine during embryonic bone evolution by using the double skeletal staining method and the protector role of vitamin E in preventing these malformations.Material and Method: The rats were divided into 6 groups: the control, low-dose nicotine, high-dose nicotine, low-dose nicotine+vitamin E, high-dose nicotine+vitamin E and vitamin E. The development of the skeletal system of the fetuses was examined by the skeleton staining method. The anterior and posterior extremity images of the fetuses were examined under the stereomicroscope and then through photographing total bone length, ossification length and ossification rate were calculated in the ImageJ program. Results: There was an important decline in the total bone length, ossification length and ossification rate (p&amp;lt;0.05) in the bone measurements of the front and hind extremities, while it was found that the treatment groups approached the control group and the increases were important (p&amp;lt;0.05). Conclusion: It was concluded that being to nicotine during pregnancy delayed skeletal ossification and that vitamin E, which is an antioxidant, may be protective opposite the teratogenic effect of nicotine on the bone.

Long-term outcomes of very-low-birth-weight and low-birth-weight preterm newborns with neonatal seizures: A single-center perspective.

Newborn seizures are frequent in preterm newborns and indicate brain lesions in many cases. The objective of this observational study was to investigate the long-term outcome of very-low-birth-weight (VLBW) and low-birth-weight (LBW) preterm infants with neonatal seizures. We examined 54 preterm infants (40 VLBW and 14 LBW cases) born between 2008 and 2011 with clinical seizures during the neonatal period confirmed by interictal or ictal electroencephalography recordings in a retrospective single-center study. Neurodevelopmental follow-up included an expert neurological examination and cognitive testing (Kaufman Assessment Battery for Children) at a mean age of six years. The (mean±standard deviation) gestational ages of the VLBW and LBW infants were 27.2±1.9 weeks and 33.4±1.7 weeks, respectively, and the postnatal age at seizure onset was 13±11 days in VLBW infants and 9±8 days in LBW infants, with a wide range of one to 62 days. LBW infants more frequently developed non-motor seizures (50.0%) than VLBW infants did (25.0%), and higher-grade intracranial hemorrhage was the predominant etiology in the VLBW group (18.0%), while the etiology in the LBW group was more heterogeneous and included central nervous system malformations and genetic syndromes. At the mean age of 6.2±2.0, years, 25/54 patients were assessed and 44.4% of the VLBW group and 71.4% of the LBW group showed intellectual impairment. Infantile cerebral palsy was present in 22% of VLBW and 42.9% of LBW infants, respectively. The present analysis of long-term neurodevelopmental outcomes of preterm neonates who experienced seizures shows that the risk for intellectual impairment is not limited only to VLBW infants but may significantly affect LBW infants as well. The etiological spectrum differs in relation to gestational age.

Anatomical tracheal parameters in premature neonates with birth body weight less than 1000 g for effective and safe administration of surfactant

Objective. To evaluate anatomical tracheal parameters of fetus and premature infant for clarifying the permissible and safe depth of insertion and «thin catheter» diameter during minimally invasive administration of surfactant.Material and methods. Autopsy examination of fetuses and newborns with extremely low birth weight, who died during their first 168 hours of life. The study describes only 26 cases, respiratory system malformations are excluded. The authors measured the distance from the glottis to the bifurcation, the perimeter of the trachea under the ligaments, in the middle part and at the level of the bifurcation with the calculation of the trachea diameter.Results. The average body weight was 684.6 ± 160.8 g, gestational age varied from 21 to 33 weeks and averaged 25 weeks. The distance from the glottis to the bifurcation was 34.31 ± 5.28 mm, and the diameter in the upper, middle and lower thirds was 3.53 ± 0.64 mm, 3.41 ± 0.63 and 3.69 ± 0.78 mm respectivelyApplication of the results: registration of these indicators when choosing a catheter for minimally invasive administration of a surfactant and the depth of its introduction into the trachea in newborns with extremely low body weight will help to avoid such complications, as one-lung administration of surfactant and its regurgitation from the trachea during the procedure, thereby increasing the efficiency and safety of the methodConclusion. The length and diameter of trachea in neonates with extremely low birth weight in the early neonatal period depend on anthropometric values and gestational age at birth, mean length is 34.31±5.28 mm.

Generation of Induced Pluripotent Stem Cells from Turner Syndrome (45XO) Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome.

Chromosomal aneuploidies cause severe congenital malformations including central nervous system malformations and fetal death. Prenatal genetic screening is purely diagnostic and does not elucidate disease mechanism. Although cells from aneuploid fetuses are valuable biological material bearing the chromosomal aneuploidy, these cells are short lived, limiting their use for downstream research experiments. Generation of induced pluripotent stem cell (iPSC) models is an effective method of cell preparation for perpetual conservation of aneuploid traits. They are self-renewing and differentiate into specialized cells reminiscent of embryonic development. Thus, iPSCs serve as excellent tools to study early developmental events. Turner syndrome (TS) is a rare condition associated with a completely or partially missing X chromosome. The syndrome is characterized by infertility, short stature, endocrine, metabolic, autoimmune and cardiovascular disorders and neurocognitive defects. The following protocol describes isolation and culturing of fibroblasts from TS (45XO) fetal tissue, generation of integration free TSiPSCs through delivery of episomal reprogramming plasmids by nucleofection followed by characterization. The reprogramming TSiPSCs were initially screened by live cell alkaline phosphatase staining followed by extensive probing for pluripotency biomarkers. Selected colonies were mechanically dissected, passaged several times and stable self-renewing cells were used for further experiments. The cells expressed pluripotency transcription factors OCT4, NANOG, SOX2, cell surface markers SSEA 4 and TRA1-81 typical of pluripotent stem cells. The original 45XO karyotype was retained post reprogramming. The TSiPSCs were able to form embryoid bodies and differentiate into cells of endoderm, mesoderm and ectoderm expressing lineage specific biomarkers ((SRY BOX17), (MYOSIN VENTRICULAR HEAVY CHAINα/β), (βIII TUBULIN)). The exogenous episomal plasmids were lost spontaneously and not detected after passage 15 in cells. These TSiPSCs are a valuable cellular resource for modelling defective molecular and cellular neurodevelopment causing neurocognitive deficits associated with Turner syndrome.

Prenatal and neonatal outcomes of pregnancies diagnosed with fetal single umbilical artery

Objective To investigate the associated anomalies and outcomes of fetuses diagnosed as having a single umbilical artery (SUA) which were reported inconsistently in previous studies. Methods The data of 82 pregnancies with fetal SUA, 35 of which were complex, and 47 isolated SUA (iSUA) and 100 pregnancies with fetal double umbilical arteries (DUA) between June 2018 and July 2020 were retrieved. We compared the maternal characteristics, and pregnancy and fetal outcomes of the three groups (iSUA, SUA, and DUA). Results Of 82 fetuses with SUA, 35 had 64 major structural abnormalities. 20 of these 35 fetuses (57.1%) had cardiovascular malformations, 12 (34.2%) had central nervous, 10 (28.5%) had genitourinary, and eight (22.8%) had gastrointestinal system malformations. Isolated SUA was present in SUA. Compared with the 100 DUA fetuses, SUA was a risk for intrauterine growth restriction (IUGR), preterm delivery, Apgar scores of &lt;7, and admission to the neonatal intensive care unit. Having fetal chromosomal or structural abnormalities, was a risk for amnion fluid abnormality, pregnancy termination, intrauterine fetal death, early neonatal death, and a low live birth ratio in SUA cases. Conclusion SUA has an increased rate of fetal structural and chromosomal abnormalities. Among them, the most detected one is cardiac and the second most common one is central nervous system malformations. Pregnancies with fetal SUA have increased risk for IUGR, preterm delivery, low Apgar scores, and admission to the neonatal intensive care unit. The presence of additional structural or chromosomal malformations increases the rate of these adverse pregnancy risks. Thus, these cases warrant dedicated fetal ultrasonographic organ screening and close prenatal follow-up.

Clinical and genomic findings in brain heterotopia: Report of a pediatric patient cohort from Romania.

Brain heterotopia is a group of rare malformations with a heterogeneous phenotype, ranging from asymptomatic to a severe clinical picture (drug-resistant epilepsy, severe developmental delay). The etiology is multifactorial, including both genetic and environmental factors. In the present study, a cohort of 15 pediatric patients with brain heterotopia were investigated by clinical examination, electroencephalographic studies, brain imaging, and genomic tests. Most of the patients had epileptic seizures, often difficult to control with one antiepileptic drug; another frequent characteristic in the cohort was developmental delay or intellectual disability, in some cases associated with behavioral problems. The genomic studies revealed an interstitial 22q11.2 microduplication, an anomaly not reported previously in heterotopia patients. Comparing the cohort of the present study with that of a previous series of heterotopia patients, both adult and pediatric, similar aspects, such as the high frequency of drug-resistant epilepsy were observed as well as some differences, such as no systemic malformations and no cases with fatal evolution. The current findings add new data to existing knowledge on a rare heterogeneous disorder. The detailed clinical description, including the epilepsy phenotypes, and genomic profiles bring new insights into a group of disorders, yet to be fully understood.

Abstract 13531: Coronary-Cameral Fistulae Causing Coronary Steal Syndrome Inducing Polymorphic Ventricular Tachycardia

Background: Coronary-cameral fistulae are rare, and usually benign, anomalous connections between coronary artery and cardiac chambers. These fistulae are rarely large enough to cause ischemia, arrhythmia, and heart failure. Case: A 49 year-old female with a complicated medical history including numerous systemic arteriovenous malformations, high output heart failure, hypertrophic cardiomyopathy with MRI proven myocardial fibrosis, recurrent monomorphic ventricular tachycardia (VT), defibrillator placement, with recent VT ablation and sympathectomy presented to the coronary care unit for recurrent monomorphic VT. During her CCU course, this patient developed a distinctly different, incessant polymorphic VT with progression to ventricular fibrillation (VF). Decision-making: The patient was started on a procainamide infusion in addition to her amiodarone infusion. Her device pacing rate was increased to improve systemic perfusion. Unfortunately, this appeared to worsen the burden of polymorphic VT. She underwent emergent cardiac catheterization, which demonstrated multiple coronary cameral fistulae arising from all three major coronary vessels with brisk flow into the left ventricular cavity, concerning for coronary steal syndrome causing ischemia. To improve coronary diastolic filling time, the pacing rate was decreased. The largest fistula, the distal PDA to left ventricle, was embolized. She remained free of polymorphic VT for 13 days, but ultimately died due to complications of aspiration pneumonia with septic shock and multiorgan system failure. Conclusion: Acute myocardial ischemia is a common cause of polymorphic ventricular tachycardia. In this medically complicated patient with history of monomorphic VT suspected secondary to myocardial scar, her polymorphic VT was likely precipitated by the coronary-cameral fistulae causing coronary steal syndrome with improvement of her polymorphic VT after embolization and slowing heart rate with ischemia reduction.

Cystic lymphangioma over the sternum: An extremely rare and atypical localization

Cystic lymphangioma is a benign lymphatic system malformation that occurs usually in children. Most common site being cervicofacial region followed by axilla; the cases in the chest wall are very rare. We report a case of male infant with cystic lymphangioma occurring at an unusual site- over the sternum.

Apnea Spells in a Term Neonate.

Apnea Spells in a Term Neonate.