Ruptured coronary sinus aneurysm in pregnancy combined with cardiogenic shock and elevated V1 and aVR ST segments: Case report.

INTRODUCTION: Sinus of Valsalva aneurysm (SOVA), a rare cardiac malformation, is usually congenital and rarely acquired and most commonly occurring in the right coronary sinus. The clinical presentation of patients with SOVA varies. It is usually asymptomatic when it has not ruptured, and when it compresses neighboring structures or ruptures, it can lead to heart failure or shock, at which point urgent surgical intervention is usually required. Rupture of the sinus of Valsalva aneurysm (RSOVA) during pregnancy is really hard to come by, especially if the clinical presentations resemble that of an acute myocardial infarction. This report describes a pregnant woman with severe chest pain and hypotension with aVR and V1 ST-segment elevation due to RSOVA. PATIENT CONCERNS: Effects of RSOVA on the fetus, disease survival, and prognosis. DIAGNOSIS: RSOVA. INTERVENTIONS: Open SOVA repair. OUTCOMES: The patient's blood pressure returned to normal range and clinical symptoms disappeared after the surgery. After 3 months of follow-up, the patient was hemodynamically stable without chest discomfort, and an echocardiogram showed a normal aortic sinus. CONCLUSION: Progressive aneurysm dilatation or rupture has a poor prognosis. A thorough history and physical examination are fundamental, with echocardiography being the initial diagnostic tool of choice, and other ancillary tests (e.g., computed tomography) being used to complement and confirm the diagnosis. Surgery remains the current treatment of choice for patients with RSOVA, while the continuation of pregnancy in pregnant patients with RSOVA remains a case-by-case measure.

Palatal groove associated with periodontal lesions: a systematic review illustrated by a decisional tree for management.

BACKGROUND: Palatal groove represents a relatively uncommon developmental root anomaly, usually found on the palatal aspect of maxillary incisors. While its origin is controversial, its presence predisposes to severe periodontal defects. AIM: This study aimed to provide a systematic review of the literature focusing on the varied diagnostic techniques and treatment modalities for periodontal lesions arising from the presence of palatal groove. Based on the existing evidence and knowledge, the study also provides a comprehensive decisional tree, guiding clinicians in the challenging decision-making process face to a palatal groove. METHODS: The literature search was conducted on Medline and Cochrane databases by two independent reviewers, who also performed the screening and selection process, looking for English written articles reporting on diagnosis and management (all treatment approaches) of periodontal lesion(s) associated with a palatal groove. Based on this literature, a comprehensive decisional tree, including a standardized palatal groove evaluation and tailored treatment approaches, is proposed. Moreover, a clinical case is described to demonstrate the practical application of the developed decisional tree. RESULTS: Over a total of 451 articles initially identified, 34 were selected, describing 40 patients with 40 periodontal lesions associated with palatal grooves. The case report illustrates a deep, large, circumferential intra-bony defect on the palatal side of the tooth #22 associated with a shallow, moderately long palatal groove in an 18-year-old male patient. Following reevaluation, a single flap surgery was deemed necessary, combined with a regenerative procedure. At 2 years post-treatment, the tooth #22 is healthy, in a functional and esthetic position. The decision-making process, based on local and systemic patient's conditions, should allow an early and precise diagnosis to prevent further complications and undertake an adequate treatment. CONCLUSION: Palatal grooves are relatively rare; however, they are frequently associated with severe periodontal defects. The identification, diagnosis, prompt, and tailored management of the associated lesion is essential to mitigate potential periodontal and endodontic complications related to the presence of palatal groove. SYSTEMATIC REVIEW REGISTRATION: [ https://www.crd.york.ac.uk/prospero/ ], identifier [C CRD42022363194].

Efficacy of modified anterior maxillary segmental distraction osteogenesis based on 3D visualisation for the treatment of maxillary hypoplasia among adolescents with cleft lip and palate.

BACKGROUND: This study evaluates a three-dimensional (3D) visualisation design combined with customized surgical guides to assist anterior maxillary segmental distraction osteogenesis (AMSDO) in correcting maxillary hypoplasia in adolescents with cleft lip and palate (CLP), focusing on treatment outcomes, satisfaction and the validity of 3D planning. METHODS: This retrospective cohort study was conducted at a single hospital in China. Between January 2020 and December 2023, 12 adolescents with CLP with maxillary hypoplasia were included. An advanced 3D simulation was used to convey the treatment strategy to the patients and their families. A customized surgical guide and distraction osteogenesis device were designed. Cephalometric analysis evaluated AMSDO changes and long-term stability. Patient satisfaction was assessed. The Chinese version of the Child Oral Health Impact Profile was used to evaluate the children's oral health-related quality of life before and after treatment. The postoperative outcomes were compared with the planned outcomes by superimposing the actual postoperative data onto the simulated soft tissue models and calculating the linear and angular differences between them. RESULTS: One patient experienced postoperative gingivitis, yielding an 8.33% complication rate. Most patients (83.33%) were highly satisfied with the target position, with the rest content. Cephalometric analysis showed significant improvements in various indices post-traction. Quality-of-life scores significantly improved post-treatment. The discrepancies in facial soft tissue between the simulated and actual results were within clinically satisfactory ranges. CONCLUSIONS: Digitally designed surgical guides effectively treat maxillary hypoplasia in adolescents with CLP, ensuring stability, reducing complications, reducing dependency on operator experience, and enhancing satisfaction and health outcomes. Although the simulated results were clinically acceptable, it is important to inform patients of potential variations in the predicted soft tissue.

Midterm outcome after surgical correction of an anomaly of the left coronary artery from the pulmonary artery.

OBJECTIVE: This study aims to present the midterm outcomes of surgical correction of the anomalous left coronary artery from the pulmonary artery (ALCAPA). METHODS: This is a retrospective study of patients undergoing anomalous origin of the LCA from the pulmonary artery repair between 2010 and 2019. RESULTS: Forty-nine patients (20 boys and 29 girls) underwent ALCAPA repair. Patients were divided into two groups based on their age at ALCAPA repair: infant (< 1 year of age: n = 24) and non-infant ( ≧ 1 year of age: n = 25). Median age at time of repair was 23 months(7-60months). LCA reimplantation was performed in 47 patients, and Takeuchi repair was performed in 2 patients. Hospital mortality in the infant group was 8.2% (4 of 49). Infant group had significantly lower LVEF in pre-operation (p < 0.05), but there was not significantly different between the two groups about LVEF at discharge. The median follow-up duration was 43(18-85)months. The freedom from reoperation was not significantly different between two groups (infants vs. non-infants: 68.8% vs. 87.5% at 10 years; p = 0.096). CONCLUSIONS: Surgical treatment of ALCAPA had an excellent early and midterm outcomes. Left ventricular dysfunction in pre-operation was the main risk of mortality in-hospital. The freedom from reoperation did not differ significantly between infant group and non-infant group.

Effects of bone anchored maxillary protraction on patients with unilateral cleft lip/palate or isolated cleft palate and hypoplastic maxilla: a 6-year follow-up case control study.

OBJECTIVES: To evaluate the effects of bone-anchored maxillary protraction (BAMP) treatment and longterm stability in growing cleft lip and palate and isolated cleft palate (CLP/CP) patients with mild maxillary hypoplasia and to compare maxillary growth patterns of BAMP-treated patients to matched control CLP/CP patients. MATERIALS AND METHODS: Ten patients with CLP/CP were treated with BAMP; they were compared to the maxillary growth pattern of 10 age-matched cleft control patients with no maxillary protraction treatment, who later received surgical Le Fort I maxillary advancement after the growth period. The assessment of maxillary growth and the occlusion started at mean 8 years of age and continued until mean 18 years of age. RESULTS: The use of BAMP orthopedic traction changed the growth pattern of mild hypoplastic maxilla toward a more anterior direction and advanced the face even above the level of Le Fort lll with only a minor effect on dentoalveolar units. The correction of occlusion and facial convexity were stable in the long term. CONCLUSIONS: The using BAMP may improve the position of the maxilla relative to the anterior cranial base for the correction of mild maxillary hypoplasia in adolescent patients with CLP/CP. The achieved results are rather stable in the long term.

Unmasking of Agenesis of Right Pulmonary Artery with Unilateral Absence of Perfusion on Lung Scintigraphy.

We present a rare finding on lung ventilation-perfusion (V/Q) scintigraphy for a woman with longstanding dyspnea. CT of the chest showed volume loss on the right side, which raised concern about possible bronchiolitis obliterans or Swyer-James-MacLeod syndrome; however, the right pulmonary artery could not be visualized. A subsequent V/Q scan showed absence of perfusion and decreased ventilation to the entire right lung, consistent with agenesis of the right pulmonary artery. The patient's clinical course and imaging features mimicked Swyer-James-MacLeod syndrome, which usually presents with a matched perfusion defect in a single lung or lobe on V/Q scanning. This case highlights the importance of a multimodality imaging approach to achieve a diagnosis.

Genomic instability in congenital lung malformations in children.

PURPOSE: To study the biological relationship between congenital lung malformations (CLMs) and malignancy. METHODS: Biopsies of 12 CPAMs, 6 intralobar sequestrations and 2 extralobar sequestrations were analyzed through whole-genome sequencing. Blood samples from 10 patients were used to confirm or exclude somatic mosaicism. Putative somatic Single Nucleotide Variants (SNVs) were called for each malformed sample with a Panel of Normals built with control DNA samples extracted from blood. The variants were subsequently confirmed by Sanger sequencing and searched, whenever possible, in the blood samples of patients. RESULTS: All CLMs but one presented a signature of genomic instability by means of multiple clusters of cells with gene mutations. Seven tumor transformation-related SNVs were detected in 6/20 congenital lung malformations. Four very rare in the general population SNVs were found in a region previously linked to lung cancer in 5p15.33, upstream of TERT oncogene. Furthermore, we identified missense genetic variants, whose tumorigenic role is well known, in the RET, FANCA and MET genes. CONCLUSIONS: Genomic instability in 95% of CLMs and genetic variants linked to tumor development in 30% of them, regardless of histopathology, are predisposing factors to malignancy, that combined with exposure to carcinogens, might trigger the development of malignancy and explain the association between CLMs and lung cancer.

BILIARY DUCTAL PLATE MALFORMATION WITH SECONDARY PORTAL HYPERTENSION AND MULTIPLE ACQUIRED SHUNTS IN A LITTER OF AMUR TIGERS (PANTHERA TIGRIS ALTAICA).

Congenital abnormalities in tigers (Panthera tigris) are infrequently reported but have included ectrodactyly, cataracts, and vestibular disease. Primary hepatic disease has been documented in multiple nondomestic felid species but is considered uncommon in tigers. To the authors' knowledge, there are no previous reports of congenital abnormalities of the liver in tigers. In May 2022, two male Amur tiger cubs (Panthera tigris altaica) were born at a zoological institution via cesarean section to address dystocia, following the natural birth of a female cub. Between two and six months of age, all three cubs developed progressive lethargy, inappetence, and neurological signs consistent with hepatic encephalopathy, including obtundation and ataxia. In all three cases, serum biochemical values revealed progressive, marked elevations in hepatic enzyme levels with reduction in hepatic synthetic products (albumin, urea, cholesterol). Computed tomographic imaging showed a large cluster of aberrant tortuous vessels craniomedial to the left kidney in all three tigers, consistent with acquired extrahepatic portosystemic shunts. Histologic examination of the livers identified biliary ductal plate malformations. This report details the presentation, clinical findings, diagnoses, and therapeutic interventions attempted in three Amur tiger cubs with biliary ductal plate malformation and subsequent portal hypertension with multiple acquired portosystemic shunts, an unusual abnormality not previously reported in non-domestic felids.

An Uncommon Presentation of Eagle Syndrome in a Primary Care Patient with Chronic Neck Pain: A Case Report and Literature Review.

BACKGROUND Eagle syndrome is an uncommon medical illness that can manifest as neck pain in primary care. It results from an abnormally unilateral or bilateral long styloid process that may compress and affect adjacent structures, which leads to the symptoms. Classical Eagle syndrome has been commonly reported, but this case highlights the uncommon involvement of autonomic nerve dysfunction. CASE REPORT This case report details a 43-year-old woman with chronic neck pain for 5 years who saw numerous medical professionals and underwent 8 physiotherapy sessions. Marginal improvement of her neck pain and recent development of imbalance and a floating sensation prompted escalation of radiological imaging that eventually led to the diagnosis of Eagle syndrome. She was subsequently subjected to tonsillectomy and styloidectomy to address the sources of her neck pain. CONCLUSIONS Neck pain is a common complaint in primary care, but Eagle syndrome is often overlooked due to its complex symptoms, which mimic other conditions resulting in missed diagnoses and prolonged diagnostic evaluations. To improve patient care and outcomes, primary care physicians should consider Eagle syndrome when evaluating neck pain. This involves taking a detailed clinical history, conducting a thorough physical examination, using appropriate imaging techniques, and knowing the treatment options. By considering this potential diagnosis, primary care physicians, other healthcare professionals, and physical therapists play an important role in referring these patients to an otorhinolaryngologist or a maxillofacial surgeon for a comprehensive evaluation and management.

Genetic Analysis of a Fetus with 14q11.2 Microdeletion in Ultrasound Abnormalities.

BACKGROUND: This study aimed to explore the genetic basis of a fetus with ultrasound indicating a thickening of the nuchal translucency (NT) and a choroid plexus cyst. METHODS: Fetal amniotic fluid and peripheral blood were collected for a G-banding karyotype analysis and single nucleotide polymorphism array (SNP-array) detection. RESULTS: The chromosome karyotypes of the fetus and its parents were normal. SNP-array showed the fetus had carried 277 kb microdeletion at 14q11.2, which was a new mutation. After the induced abortion, the fetus was diagnosed with macrocephaly. CONCLUSIONS: A prenatal diagnosis of a fetus with 14q11.2 microdeletion-induced intrauterine growth retardation was confirmed, which has provided guidance for the subsequent pregnancy.

A Case Report of Modified Cabrol Technique in a 60-Year-Old Male with Coronary Origin Anatomical Variant.

Introduction: Reconstruction surgery of the proximal aorta in most cases involves the use of an aortic conduit, followed by reimplantation of the coronary ostia. Although uncommon, the origin of the coronary arteries in certain anatomical variants poses additional difficulties when performing surgery on the aortic root and requires a different treatment rationale. Case report: We hereby present the case of a 60-year-old patient with multiple cardiovascular risk factors (smoking, arterial hypertension and dyslipidemia), suffering from severe degenerative stenosis of a bicuspid aortic valve, associated with ascending aorta aneurysm and a significant extrinsic stenosis of the left coronary artery caused by the aneurysm. The patient presented with severe degenerative bicuspid aortic valve stenosis associated with ascending aorta aneurysm and a significant extrinsic stenosis of the left coronary artery caused by the aneurysm. Following the preoperative assessment, it was decided that the best course of action was to perform surgery on the aortic valve and ascending aorta. During the surgery, the origin of the right and left coronary ostia were found at the level of the left coronary cusp, both forming a common coronary button. Due to this particular anatomical variant, it was decided to reimplant them as a common button onto the main conduit by means of an interposed No.10 PTFE (Polytetrafluoroethylene) vascular prosthesis. Conclusion: A rare case of aortic root surgery associated with coronary ostia origin variant "shotgun barrel", which required a different method of reimplantation: modified Cabrol technique.

Molecular diagnostic yield of exome sequencing in a Chinese cohort of 512 fetuses with anomalies.

BACKGROUND: Currently, whole exome sequencing has been performed as a helpful complement in the prenatal setting in case of fetal anomalies. However, data on its clinical utility remain limited in practice. Herein, we reported our data of fetal exome sequencing in a cohort of 512 trios to evaluate its diagnostic yield. METHODS: In this retrospective cohort study, the couples performing prenatal exome sequencing were enrolled. Fetal phenotype was classified according to ultrasound and magnetic resonance imaging findings. Genetic variants were analyzed based on a phenotype-driven followed by genotype-driven approach in all trios. RESULTS: A total of 97 diagnostic variants in 65 genes were identified in 69 fetuses, with an average detection rate of 13.48%. Skeletal and renal system were the most frequently affected organs referred for whole exome sequencing, with the highest diagnostic rates. Among them, short femur and kidney cyst were the most common phenotype. Fetal growth restriction was the most frequently observed phenotype with a low detection rate (4.3%). Exome sequencing had limited value in isolated increased nuchal translucency and chest anomalies. CONCLUSIONS: This study provides our data on the detection rate of whole exome sequencing in fetal anomalies in a large cohort. It contributes to the expanding of phenotypic and genotypic spectrum.

Erdheim-Chester Disease Presenting as Bilateral Facial Masses: A case report and review of literature.

Erdheim-Chester disease (ECD) is a rare form of non-Langerhans cell histiocytosis with unknown aetiology. It is recently recognised to be neoplastic with genetic mutations affecting the mitogen-activating protein kinase pathway. We report a 49-year-old female patient who initially presented in 2012 to a tertiary care centre in Muscat, Oman, with bilateral facial masses. These were removed but later recurred over a period of 10 years. She then presented with xanthelasmas, bone lesions, secondary infertility due to hypothalamic hypogonadism, diabetes insipidus and Hashimoto's hypothyroidism. The facial masses were biopsied and they showed classic morphological features in the form of diffuse infiltration by foamy histiocytes with scattered Touton type of giant cells, patchy lymphocytic infiltrates and dense fibrosis. The patient is stable and is being followed-up. The presented ECD case is particularly interesting due to the recurrent bilateral facial masses. To the best of the authors' knowledge, this is the first documented case in Oman.

Congenital Posteromedial Bowing of the Tibia: A Conservative Casting and Bracing Approach.

Congenital posteromedial bowing of the tibia is a rare structural deformity of the lower extremity. This severe deformity may be discovered on ultrasound prenatally but is more commonly evident immediately after birth. Prognostically, congenital posteromedial bowing of the tibia ranges from a self-resolving condition to the development of a significant limb-length discrepancy with functional deficits. This condition can be treated conservatively but may require surgical correction in adolescence or at skeletal maturity. This case study presents a pediatric patient who underwent early conservative treatment with casting and bracing in a podiatric medical clinic setting.

Deficient GATA6-CXCR7 signaling leads to bicuspid aortic valve.

The cardiac outflow tract (OFT) transiently links the ventricles to the aortic sac and forms the arterial valves. Abnormalities in these valves, such as bicuspid aortic valve (BAV), are common congenital anomalies. GATA6-inactivating variants cause cardiac OFT defects and BAV, but their mechanisms are unclear. We generated Gata6STOP/+ mice using CRISPR-Cas9, which show highly penetrant BAV (70%) and membranous ventricular septal defects (43%). These mice exhibited decreased proliferation and increased ISL1-positive progenitor cells in the OFT, indicating abnormal cardiovascular differentiation. Gata6 deletion with the Mef2cCre driver line recapitulated Gata6STOP/+ phenotypes, indicating a cell-autonomous role for Gata6 in the second heart field. Gata6STOP/+ mice showed reduced OFT length and caliber, associated with deficient cardiac neural crest cell contribution, which may cause valvulo-septal defects. RNA-sequencing analysis showed depletion in pathways related to cell proliferation and migration, highlighting Cxcr7 (also known as Ackr3) as a candidate gene. Reduced mesenchymal cell migration and invasion were observed in Gata6STOP/+ OFT tissue. CXCR7 agonists reduced mesenchymal cell migration and increased invasion in wild-type but not in Gata6STOP/+ explants, indicating the GATA6-dependent role of CXCR7 in OFT development and its potential link to BAV.

A rare case of inferior sinus venosus atrial septal defect and concomitant hypoplasia of the posterior mitral valve leaflet.

Inferior sinus venosus atrial septal defect (SVASD) is the rarest form of the atrial septal defect (ASD) and can sometimes go unnoticed. Although this defect can be associated with other congenital anomalies, its association with hypoplasia of the posterior mitral leaflet is extremely rare. In this case, we present a woman with a history of surgery for an ostium secundum ASD who exhibited persistent right heart chamber dilation. Echocardiography revealed hypoplasia of the posterior mitral leaflet, and cardiac magnetic resonance (CMR) imaging confirmed the presence of a previously undetected inferior sinus venosus ASD.

Pulmonary Vein in a Pinch.

The pulmonary veins normally drain into the left atrium, with the superior pulmonary veins typically situated anterior and inferior to the right pulmonary arteries. However, anomalies can happen. We encountered an exceedingly rare pulmonary vascular anomaly for a patient presenting with atypical chest pain, where the right superior pulmonary vein aberrantly ran posterior to the right pulmonary artery (RPA) and became compressed between the RPA and the right main bronchus. Coronary computed tomography angiography identified this specific pulmonary vein anomaly but revealed unremarkable coronary arteries.