scholarly journals THE CLINICAL CASE OF HEMIFACIAL MICROSOMIA IN THE NEWBORN BOY FROM MOTHER WITH Z-21

2021 ◽  
Vol 11 (2(40)) ◽  
pp. 64-67
Author(s):  
I.V. Lastivka ◽  
A.G. Babintseva ◽  
V.V. Antsupova ◽  
А.І. Peryzhniak ◽  
І.V. Koshurba ◽  
...  
Keyword(s):  
Clinical Case ◽  
Septal Defect ◽  
Neonatal Period ◽  
Hemifacial Microsomia ◽  
Internal Factors ◽  
Vascular Abnormalities ◽  
Branchial Arches ◽  
The Face ◽  
The Right

Hemifacial Microsomia (HFM) is a term used to identify facial deformities associated with the development ofthe first and second pairs of branchial arches, characterized by underdevelopment of one half of the face. One typeof hemifacial microsomia is oculo-auriculo-vertebral dysplasia or Goldenhar syndrome.The incidence of HFM is 1:3500-1:7000 of live births and occurs in 1 case per 1000 children with congenitaldeafness. The ratio of boys to girls is 3:2. The etiology and type of inheritance is studied insufficiently. There are threepossible pathogenetic models: vascular abnormalities and hemorrhages in the craniofacial region, damage of Meckel'scartilage, and abnormal cell development of the cranial nerve crest. Environmental factors, maternal internal factors,and genetic factors (OTX2, PLCD3, and MYT1 mutations) may also cause the development of hemifacial microsomia.The article demonstrates a clinical case of hemifacial microsomia in a newborn boy from a mother with Z-21 inthe form of deformation of the left auricle with atresia of the auditory canal and "false" ears on the right, combinedwith congenital anomaly of heart (atrial septal defect) and brain (hypoplasia of the corpus callosum).Emphasis is placed on the need of involving a multidisciplinary team of specialists in the management of thispatient both in the neonatal period and in the system of subsequent follow-up.

Early and late outcomes of surgical repair of double-chambered right ventricle: a single-centre experience

2020 ◽  
Vol 30 (3) ◽  
pp. 409-412
Author(s):  
Murat Surucu ◽  
İlkay Erdoğan ◽  
Birgül Varan ◽  
Murat Özkan ◽  
N. Kürşad Tokel ◽  
...  
Keyword(s):  
Ventricular Septal Defect ◽  
Right Ventricle ◽  
Septal Defect ◽  
Surgical Intervention ◽  
Systolic Pressure ◽  
Presenting Symptoms ◽  
Long Term Follow Up ◽  
The Right

AbstractObjective:Double-chambered right ventricle is characterised by division of the outlet portion of the right ventricle by hypertrophy of the septoparietal trabeculations into two parts. We aim to report our experiences regarding the presenting symptoms of double-chambered right ventricle, long-term prognosis, including the recurrence rate and incidence of arrhythmias after surgery.Methods:We retrospectively investigated 89 consecutive patients who were diagnosed to have double-chambered right ventricle and underwent a surgical intervention from 1995 to 2016. The data obtained by echocardiography, cardiac catheterisation, and surgical findings as well as post-operative follow-up, surgical approaches, post-operative morbidity, mortality, and cardiac events were evaluated.Results:Median age at the time of diagnosis was 2 months and mean age at the time of operation was 5.3 years. Concomitant cardiac anomalies were as follows: perimembranous ventricular septal defect (78 patients), atrial septal defect (9 patients), discrete subaortic membrane (32 patients), right aortic arch (3 patients), aortic valve prolapse and/or mild aortic regurgitation (14 patients), and left superior caval vein (2 patients). The mean follow-up period was 4.86 ± 4.6 years. In these patients, mean systolic pressure gradient in the right ventricle by echocardiography before, immediately, and long-term after surgical intervention was 66.3, 11.8, and 10.4 mmHg, respectively. There were no deaths during the long-term follow-up period. Surgical reinterventions were performed for residual ventricular septal defect (2), residual pulmonary stenosis (1), and severe tricuspid insufficiency (1).Conclusion:The surgical outcomes and prognosis of double-chambered right ventricle are favourable, recurrence and fatal arrhythmias are unlikely in long-term follow-up.

scholarly journals A New Coated Nitinol Occluder for Transcatheter Closure of Ventricular Septal Defects in a Canine Model

2013 ◽  
Vol 2013 ◽  
pp. 1-7 ◽  
Author(s):  
Yong Zhou ◽  
Feng Chen ◽  
Xinmiao Huang ◽  
Xianxian Zhao ◽  
Hong Wu ◽  
...  
Keyword(s):  
Ventricular Septal Defect ◽  
Septal Defect ◽  
Thrombus Formation ◽  
Canine Model ◽  
Control Group ◽  
New Type ◽  
Good Biocompatibility ◽  
The Right ◽  
Microscopy Examination

Aims. This study evaluated feasibility and safety of implanting the polyester-coated nitinol ventricular septal defect occluder (pcVSDO) in the canine model.Methods and Results. VSD models were successfully established by transseptal ventricular septal puncture via the right jugular vein in 15 out of 18 canines. Two types of VSDOs were implanted, either with pcVSDOs (n=8) as the new type occluder group or with the commercial ventricular septal defect occluders (VSDOs,n=7, Shanghai Sharp Memory Alloy Co. Ltd.) as the control group. Sheath size was 10 French (10 Fr) in two groups. Then the general state of the canines was observed after implantation. ECG and TTE were performed, respectively, at 7, 30, 90 days of follow-up. The canines were sacrificed at these time points for pathological and scanning electron microscopy examination. The devices were successfully implanted in all 15 canines and were retrievable and repositionable. There was no thrombus formation on the device or occurrence of complete heart block. The pcVSDO surface implanted at day 7 was already covered with neotissue by gross examination, and it completed endothelialization at day 30, while the commercial VSDO was covered with the neotissue in 30th day and the complete endothelialization in 90th day.Conclusion. The study shows that pcVSDO is feasible and safe to close canine VSD model and has good biocompatibility and shorter time of endothelialization.

Acquired retinoschisis and vitreous hemorrhage as unusual findings in choroideremia: Case report

2020 ◽  
pp. 112067212094657
Author(s):  
Dario Pasquale Mucciolo ◽  
Vittoria Murro ◽  
Dario Giorgio ◽  
Andrea Sodi ◽  
Ilaria Passerini ◽  
...  
Keyword(s):  
Case Report ◽  
Retinal Pigment Epithelium ◽  
Pigment Epithelium ◽  
Retinal Pigment ◽  
Vitreous Hemorrhage ◽  
Advanced Stage ◽  
Vascular Abnormalities ◽  
Diagnostic Difficulties ◽  
The Right

Purpose: To report a case of choroideremia characterized by peripheral retinoschisis with vascular abnormalities and vitreous hemorrhage. Observations: A 58-year-old man affected by advanced-stage choroideremia was diagnosed with peripheral retinoschisis in both eyes. Vitreous hemorrhage was present in the right eye with a peculiar clot-like lesion at the periphery. At the 1-year follow-up, the vitreous hemorrhage had reabsorbed and the vascular clot-like lesion in the periphery had almost completely disappeared. Conclusion and importance: We have reported fundoscopic and OCT features of peripheral-acquired retinoschisis with vascular abnormalities in a patient with choroideremia. OCT examination is extremely useful in clinical evaluation of the peripheral retinal alterations in these cases, where the absence of the retinal pigment epithelium and the choriocapillaris pose many diagnostic difficulties.

Stroke in Sickle Cell Anemia After Excellent Response to Hydroxyurea.

Blood ◽  
2009 ◽  
Vol 114 (22) ◽  
pp. 4622-4622
Author(s):  
Ubaldo Martinez ◽  
Samir K. Ballas
Keyword(s):  
Atrial Septal Defect ◽  
Sickle Cell ◽  
Sickle Cell Anemia ◽  
Septal Defect ◽  
Acute Chest Syndrome ◽  
Excellent Response ◽  
Blood Exchange ◽  
Atrial Shunt ◽  
The Right

Abstract Abstract 4622 Introduction Strokes occur in about 10% of children with sickle cell anemia (SS) less than 10 years old. These strokes are usually ischemic in nature. Stroke due to SS in adults is less common and is usually hemorrhagic in nature. We wish to report an unusual adult patient with SS and excellent response to HU who developed a stroke that was unrelated to SS. Case Report and Results A 35-year-old female with sickle cell anemia had mitral valve prolapse and migraine headaches presented 2 days after developing abrupt bilateral blurry vision, left facial numbness and weakness of her left leg. Her SS has been complicated by acute chest syndrome, bilateral hip avascular necrosis and frequent painful crises prior to hydroxyurea (HU) therapy. She was enrolled in the multicenter study of hydroxyurea (MSH) in SS and has been on 2500mg of HU per day for the past 13 years. She had an excellent response to HU with no recurrent acute chest syndrome and decreased need for blood transfusion. After starting HU, the frequency of crises requiring hospital admission decreased from 1 admission every 1 to 2 months to less than 1 admission per year except when hydroxyurea was discontinued for pregnancy. Her fetal hemoglobin increased from 6.1 % before HU to a maximum of 45%. Her MCV increased from 96 fl to a maximum of 132 fl and Hb from 8.0 g/dl to 9.8 g/dl Her exam was remarkable for left lower extremity weakness which was more pronounced proximally. All cranial nerves were intact and there was normal sensation bilaterally. CT scan of the brain showed three foci of hypodensity and MRI of the brain showed increased signal on T2, FLAIR and diffusion weighted images within the frontoparietal deep white matter consistent with infarction in the border zone of the middle cerebral artery (MCA)-anterior cerebral artery (ACA). MR angiography of the intracerebral and extracerebral vessels demonstrated focal narrowing of the right MCA at the trifurcation suggesting an embolic cause. Common causes of stroke were ruled out with routine studies. Her hemoglobin electrophoresis after admission but before blood exchange transfusion showed HbS of 55% and HbF of 45%. She underwent exchange transfusion 2 days after admission and was started on chronic blood exchange transfusions with the assumption that she had ischemic stroke due to SS. Initial transthoracic echocardiogram with contrast injection did not show an atrial shunt. Follow-up transesophageal echocardiogram after discharge showed a secundum atrial septal defect with a defect size of 1.4 cm. Right heart catheterization was performed and the pulmonary flow to systemic flow (Qp/Qs) was 1.7:1. An Amplatzer atrial septal defect (ASD) closure device was deployed with transesophageal echocardiographic guidance and a large thrombus was removed from the right atrium. At the patient's request exchange red cell transfusions were discontinued. The patient has continued treatment with hydroxyurea and aspirin. Conclusions Young patients with cryptogenic stroke have a much higher prevalence of atrial shunts and in particular patent foramen ovale than patients with other forms of stroke and therefore a cause-effect association is suggested. Young adults with stroke should be evaluated for common and reversible causes of stroke including paroxysmal emboli. Transesophageal echocardiography is the gold standard for diagnosing atrial shunts. Strokes in patients younger than age 55 are related to paroxysmal emboli and have a risk of recurrence of approximately 30% within one year. High risk features for stroke recurrence with an atrial shunt include hypercoagulable states, large opening and presence of an atrial septal aneurysm. Optimal management of patients with a stroke and an atrial shunt is unknown. Options include surgical closure, percutaneous device closure, anticoagulation and antiplatelet therapy. Patients with sickle cell disease and stroke should receive long term blood transfusions to reduce HbS below 30% if the stroke is felt to be related to sickle cell disease vasculopathy. The patient described with SS had a stroke and had an atrial septal defect that was repaired. The MRI/MRA findings are consistent with paroxysmal emboli. The patient is receiving treatment with hydroxyurea and aspirin having discontinued red cell exchange transfusions and at two years of follow-up has not had a recurrent stroke. Disclosures: No relevant conflicts of interest to declare.

scholarly journals Fracture of the coronoid and pterygoid processes by firearms: case report

2007 ◽  
Vol 18 (2) ◽  
pp. 168-170 ◽  
Author(s):  
David Moraes de Oliveira ◽  
Ricardo José de Holanda Vasconcellos ◽  
José Rodrigues Laureano Filho ◽  
Rafael Vago Cypriano
Keyword(s):  
Ct Scan ◽  
Speech Therapy ◽  
Clinical Signs ◽  
Mouth Opening ◽  
Parotid Region ◽  
Comminuted Fracture ◽  
3D Ct Scan ◽  
The Face ◽  
The Right

A rare case of fracture of the coronoid and the pterygoid process caused by firearms is described. A 28-year-old male was hit by a bullet in the face, resulting in restricted mouth opening, difficulty in chewing and pain when opening the mouth. Clinical examination revealed a perforating wound in the right parotid region and a similar wound on the left side of the same region. A CT scan showed comminuted fracture of the left coronoid process and bilateral comminuted fracture of the pterygoid processes. Treatment was conservative, speech therapy was conducted and it was successful. Details of the clinical signs, radiology (3D-CT scan), treatment and follow-up are presented.

scholarly journals Anomalous right-sided pulmonary venous connection to the superior vena cava

2016 ◽  
Vol 72 (1) ◽  
Author(s):  
Kiumars Abbasi ◽  
Ali Abbasi ◽  
Mokhtar Tazik ◽  
Abbas Salehiomran ◽  
Ali Kazemisaeed ◽  
...  
Keyword(s):  
Cardiopulmonary Bypass ◽  
Superior Vena Cava ◽  
Septal Defect ◽  
Superior Vena ◽  
Vena Cava ◽  
Good Health ◽  
Anomalous Pulmonary Vein ◽  
The Right ◽  
Anomalous Pulmonary Venous Connection

Over the years, different techniques have been introduced for the repair of sinus venosus atrial septal defect (ASD) with anomalous right-sided pulmonary venous connection to the superior vena cava. We report the case of a 9- year-old girl, who presented with dyspnea and peripheral cyanosis. Preoperative echocardiography and angiography findings suggested a partial anomalous pulmonary venous connection. On cardiopulmonary bypass, the ASD was dilated, and the anomalous pulmonary vein was anastomosed to the right atrium and redirected to the left atrium using an intraatrial baffle and a tube graft. The intraoperative and postoperative periods were uneventful, and the patient is currently in good health at 4.5 years’ follow-up.

scholarly journals Garre’s Osteomyelitis

2019 ◽  
Vol 4 (1) ◽  
Keyword(s):  
Facial Asymmetry ◽  
Periosteal Reaction ◽  
Normal Limits ◽  
Cortical Irregularity ◽  
Bone Biopsies ◽  
The Face ◽  
Tissue Changes ◽  
Soft Tissue Changes ◽  
The Right

Our case involved an 8 year girl who presented with a painful swelling Right lower jaw, with difficulty in deglutition, there was no fever. Earlier treatment by Dentists & ENT Specialists had provided no relief. Relevant investigations were within normal limits. The OPG was normal. MDCT scan of the face/orbit showed cortical irregularity and erosions in the Right hemi-mandible with a significant periosteal reaction & multiple irregular lytic areas in the marrow along with soft tissue changes suggestive of osteomyelitis. The significant periosteal reaction combined with osteomyelitis was suggestive of Garre’s osteomyelitis. No bone biopsies were considered due to the typical clinical & radiological features. With 4 weeks of antibiotic treatment the patient was completely relieved of her symptoms, with a major correction in the facial asymmetry. Regular follow up demonstrated a remodeling of the mandible with normal results on bone scanning

scholarly journals Staged Correction of Pulmonary Atresia, Ventricular Septal Defect and Collateral Arteries

2021 ◽  
Author(s):  
Pieter van de Woestijne ◽  
M. Mokhles ◽  
Ingrid van Beynum ◽  
Peter de Jong ◽  
Jeroen Wilschut ◽  
...  
Keyword(s):  
Ventricular Septal Defect ◽  
Septal Defect ◽  
Pulmonary Arteries ◽  
Pulmonary Atresia ◽  
Pulmonary Vasculature ◽  
Collateral Arteries ◽  
Staged Approach ◽  
The Right ◽  
Rv Function

Objectives Pulmonary atresia (PA) with ventricular septal defect (VSD) and systemic-pulmonary collateral arteries (SPCA’s) has a variable anatomy with regard to the pulmonary vasculature, asking for an individualized surgical treatment. A protocol was applied consisting of staged unifocalization and correction. Methods Since 1989 39 consecutive patients were included (median age at first operation 13 months). In selected cases a central aorto-pulmonary shunt was performed as first procedure. Unifocalization procedures were performed through a lateral thoracotomy. Correction consisted of shunt takedown, VSD closure and interposition of an allograft between the right ventricle and the reconstructed pulmonary artery. Postoperatively and at follow up echocardiographic data were obtained. Results In 39 patients 66 unifocalization procedures were performed. Early mortality was 5%. Seven patients were considered not suitable for correction, four of them died. One patient is awaiting further correction. Correction was done successfully in 28 patients. Operative mortality was 3% and late mortality 11%. Median follow-up after correction was 19 years. Eleven patients needed homograft replacement. Freedom from conduit replacement was 88%, 73% and 60% at 5, 10 and 15 years respectively. Right ventricular function was reasonable or good in 75 % of the patients. Conclusions After complete unifocalization 30/37 patients (81%) were considered correctable. The main reasons for palliative treatment without correction were pulmonary hypertension and/or inadequate outgrowth of pulmonary arteries. Staged approach of PA, VSD and SPCA’s results in adequate correction and good functional capacity. RV function after correction remains reasonable or good in the majority of patients.

Surgery for Aortic Insufficiency Associated with Ventricular Septal Defect

2005 ◽  
Vol 13 (1) ◽  
pp. 61-64 ◽  
Author(s):  
Chareonkiat Rergkliang ◽  
Vorawit Chittithavorn ◽  
Apirak Chetpaophan ◽  
Prasert Vasinanukorn
Keyword(s):  
Ventricular Septal Defect ◽  
Septal Defect ◽  
Aortic Insufficiency ◽  
Aortic Cusp ◽  
The Mean ◽  
Coronary Cusp ◽  
The Right ◽  
Right Coronary Cusp

Aortic valve repair in children is a challenge. We have adopted a technique of single aortic cusp extension with an autologous pericardial strip in patients diagnosed with severe aortic insufficiency (AI) associated with a ventricular septal defect (VSD). The purpose of this study was to report the short-term outcomes. Seven patients were operated on between January 2002 and December 2003. The mean age was 11.28 ± 2.1 years (range 8–14 years). The VSD was closed with a synthetic patch. Aortic cusp extension was performed at the right coronary cusp in 6 patients and the remainder had a non-coronary cusp extension. The mean diastolic arterial pressure increased from 35.71 ± 6.09 to 74.28 ± 7.31 mm Hg after the operation ( p < 0.001). The postoperative grade of AI was trivial in 4 patients, mild in 1 patient and non-existent in 2 patients. The mean follow-up period was 12.85 ± 6.12 months (range 2–20 months). This technique is very effective in patients with severe AI associated with a VSD. However, long-term durability will need to be carefully followed.

Percutaneous closure of ventricular septal defect using LifeTechTM Konar-MF VSD Occluder: initial and short-term multi-institutional results

2021 ◽  
pp. 1-7
Author(s):  
Masood Sadiq ◽  
Ahmad Usaid Qureshi ◽  
Muhammad Younas ◽  
Sohail Arshad ◽  
Syed Najam Hyder
Keyword(s):  
Ventricular Septal Defect ◽  
Aortic Regurgitation ◽  
Septal Defect ◽  
Defect Closure ◽  
Short Term ◽  
Ventricular Septal Defect Closure ◽  
Coronary Cusp ◽  
The Right ◽  
Right Coronary Cusp

Abstract Background: Transcatheter ventricular septal defect closure remains a complex procedure with potential complications like complete heart block and aortic regurgitation. The ideal device design for such intervention is still evolving. Aim: To assess the safety, efficacy, and short-term outcome of ventricular septal defect closure using LifeTechTM multifunctional (KONAR-MFTM) VSD Occluder. Patients and methods: In a multicenre study, 44 patients with haemodynamically significant, restrictive ventricular septal defects underwent closure with the KONAR-MFTM device from April, 2019 to March, 2020. Clinical, echocardiographic, and angiographic data were collected and reviewed. Patients were followed up at 1, 3, 6, and 12 months. Results: The median age and weight were 8 (1.7–36) years and 20 (11–79) kg. Of 44 patients, 8 (18%) had a high muscular and 36 (82%) had a perimembranous defect, of which 6 had mild prolapse of the right coronary cusp. The median ventricular septal defect size was 8.8 (3.9–13.4) mm. A retrograde approach was adopted in 39 (88.6%) patients. Nine patients (20.5%) had a small residual leak and there was a slight increase in aortic regurgitation in one patient. One device, which embolised to pulmonary artery was retrieved, and the defect was closed with a larger device. At a median follow-up of 13 (5–18) months, the residual leak persisted in 1 (2.3%) patient. Mild aortic regurgitation in one patient remained unchanged. There were no major complications. Conclusion: Percutaneous closure of ventricular septal defect using KONAR-MFTM device is safe and effective in short and midterm follow-up including selected patients with perimembranous defect and mild prolapse of the right coronary cusp.

Sign in / Sign up

Export Citation Format

Share Document