Fraser Syndrome With Megalencephaly: A Rare Association

2021 ◽  
pp. 097321792110463
Author(s):  
Manasi Gupta ◽  
Kalyan Chakravarthy Konda ◽  
Jayashree Purkayastha ◽  
Edward Lewis Leslie
Keyword(s):  
Septal Defect ◽  
Antenatal Diagnosis ◽  
Ductus Arteriosus ◽  
Secundum Atrial Septal Defect ◽  
Renal Hypoplasia ◽  
Fraser Syndrome ◽  
Lost To Follow Up ◽  
First Time ◽  
The Brain

An outborn term neonate was referred at 12 h of life with multiple congenital anomalies. A baby was born out of consanguineous marriage to a mother with 2 previous abortions. Clinical examination showed features such as bilateral cryptophthalmos, syndactyly involving all limbs, and clitoromegaly suggestive of Fraser syndrome. Ultrasound of the abdomen showed unilateral renal hypoplasia. Echocardiography showed ostium secundum atrial septal defect, small ventricular septal defect, and patent ductus arteriosus. Magnetic resonance imaging of the brain revealed megalencephaly with polygyria. Further evaluation and surgical treatment of cryptophthalmos were advised but could not be done because of socioeconomic constraint, and the neonate was discharged and lost to follow-up. The occurrence of cerebral malformations in Fraser syndrome is highly variable and not very well described in the literature. To the best of our knowledge, association of megalencephaly with this syndrome is being reported for the first time. We also intend to educate the physicians about the antenatal clues associated with this rare syndrome, which could promote antenatal diagnosis and thereby modify the outcome.

scholarly journals Congenital Cardiovascular Anomalies among Cases of Down Syndrome: A Hospital Based Review of Cases in TikurAnbessa Specialized Hospital, Ethiopia

1970 ◽  
Vol 29 (2) ◽  
Author(s):  
Ahmed Muntha ◽  
Tamirat Moges
Keyword(s):  
Down Syndrome ◽  
Ventricular Septal Defect ◽  
Patent Ductus Arteriosus ◽  
Septal Defect ◽  
Ductus Arteriosus ◽  
Cardiac Defects ◽  
Cardiac Anomalies ◽  
Lost To Follow Up ◽  
Patent Ductus

BACKGROUND: In developing countries, infants with Down syndrome and cardiac defect are at increased risk of dying. Congenital heart diseases occur in 40-50% of affected infants.Endocardial cushion defect accounts for the most. Pattern of cardiac defects in Down syndrome vary with ethnicity. The current study aims to determine pattern of cardiac defects and survival of patients in our institution.METHODS: Hospital based review of cases, between April 2010 and may 2015 were made. Data were analyzed using SPSS version 20 software quantitatively with plotted Kaplan Meier survival curve done. RESULTS: Down syndrome cases, 53 male and 63 females with cardiac anomalies, were described. Patent ductus arteriosus occurs in 57(36.5%), Ventricular septal defect in 31(19.9%), Atrial septal defect in 30(19%), Atrio-ventricular septal defect in29(18.6%),Tetralogy of Fallot in 4(2.6%) and others in 5(3.2%) cases. Cases were alive, lost to follow-up and died in 59, 35 and 22 cases, respectively. The overall death rate was 19% and two-third of them died during infancy with females dying at an earlier age than males. Pulmonary hypertension, hypothyroidism and gastrointestinal disorders were diagnosed in 46, 21 and 4 of the cases, respectively. Reasons for lost to follow-up were discussed.CONCLUSION: The pattern of cardiac anomalies in our study among Down syndrome cases is dominated by Patent ductus arteriosus while, the overall survival of cases is guarded as majority of deaths occurred during infancy

scholarly journals 0695 Sleepwell24, A Smartphone Application To Promote PAP Therapy Adherence: Feasibility And Acceptability

SLEEP ◽  
2020 ◽  
Vol 43 (Supplement_1) ◽  
pp. A265-A265
Author(s):  
M E Petrov ◽  
K Hasanaj ◽  
C M Hoffmann ◽  
D R Epstein ◽  
L Krahn ◽  
...  
Keyword(s):  
Real Time ◽  
Smartphone Application ◽  
Sleep Medicine ◽  
Retention Rates ◽  
Activity Levels ◽  
Post Intervention ◽  
Personal Technology ◽  
Lost To Follow Up ◽  
First Time

Abstract Introduction We aimed to test the feasibility and acceptability of SleepWell24, a multicomponent, smartphone-delivered intervention to increase positive airway pressure (PAP) adherence among newly diagnosed OSA patients. Methods SleepWell24 targets PAP adherence along with other health behaviors through education, trouble-shooting, goal-setting, and near real-time biofeedback of PAP machine use, and sleep and physical activity levels (via Fitbit integration), and other chronic disease self-management components. Patients with a first-time diagnosis of OSA (AHI≥5) and prescribed PAP therapy were enrolled from the Centers for Sleep Medicine at Mayo Clinic in Rochester, MN and Phoenix, AZ. Patients were randomized to SleepWell24 or usual care (UC) and assessed for PAP use over 60 consecutive nights. UC patients received a Fitbit monitor to control for non-specific intervention effects related to the introduction of a new personal technology. Feasibility was assessed with recruitment and retention rates and acceptability was assessed post-intervention with the validated, 8-item Treatment Evaluation Questionnaire (TEQ; range:0-4). ANCOVA models, adjusting for age, sex, and AHI severity, compared intervention arms on acceptability ratings. Results OSA patients were consented and randomized (N=111). Before the intervention began 4 participants withdrew, 12 were lost to follow-up, and 5 could not start the trial due to durable medical equipment (DME) vendor barriers. Ninety OSA patients (n=41 SleepWell24, n=49 UC; age M±SD=57.2±12.2; 44.4% female, 61.1% AHI≥15) started the intervention, with 2 participants withdrawing, 1 becoming deceased (unrelated to treatment) and 7 with missing PAP data due to DME vendor barriers. There was no significant between-groups differences on post-treatment acceptability (SleepWell24 M±SD=2.7±1.1 vs. UC M±SD=3.1±0.9, F[1,73]=2.3, p=0.11), and 77% of SleepWell24 participants found the app to be moderately to totally acceptable. Conclusion Overall, SleepWell24 was found to be feasible for delivery in two large clinical sleep medicine centers, and patients found the app to be acceptable. A number of challenges in trial delivery were encountered that have implications for scaled-up efficacy testing: (a) partnerships with DME vendors for near real-time PAP data integration; (b) alignment with clinical practice (i.e., referral, medical record integration); and (c) patient engagement. Support National Institute of Nursing Research / National Institutes of Health: R21NR016046

scholarly journals Is the Sac Waiting to Rupture? Sinus of Valsalva Aneurysm

Aorta ◽  
2016 ◽  
Vol 04 (03) ◽  
pp. 105-107 ◽  
Author(s):  
Ankur Phatarpekar ◽  
Milind Phadke ◽  
Charan Lanjewar ◽  
Prafulla Kerkar
Keyword(s):  
Atrial Septal Defect ◽  
Septal Defect ◽  
Sinus Of Valsalva ◽  
Device Closure ◽  
Sinus Of Valsalva Aneurysm ◽  
Lost To Follow Up

AbstractCompletely asymptomatic sinus of Valsalva aneurysms are rare entities, and there is no consensus regarding their management. We present the case of a patient who underwent atrial septal defect device closure at 5 years of age and was lost to follow-up, then presented 6 years later with unruptured sinus of Valsalva aneurysm and was closely followed. The aneurysm eventually ruptured and was successfully operated on with good outcomes.

scholarly journals Successful simultaneous transcatheter treatment for secundum atrial septal defect with valvular pulmonary stenosis in children under transthoracic echocardiography guidance

2021 ◽  
Author(s):  
Xuning Lu ◽  
Ping Wen ◽  
Yuhang Liu ◽  
Quanwei Zhu
Keyword(s):  
Atrial Septal Defect ◽  
Transthoracic Echocardiography ◽  
Septal Defect ◽  
Pulmonary Stenosis ◽  
Secundum Atrial Septal Defect ◽  
Device Closure ◽  
The Mean ◽  
Valvular Pulmonary Stenosis ◽  
Transcatheter Device

Abstract BACKGROUND Transcatheter device closure of secundum atrial septal defect (ASD) with valvular pulmonary stenosis (PS) under fluoroscopy and/or transesophageal echocardiography (TEE) guidance is a mature technology. However, little study has focused on whether the technology can be guided totally by transthoracic echocardiography (TTE), even in children.METHODS Thirteen children with ASD combined with PS underwent transcatheter device closure totally guided by TTE at our cardiac center from March 2 016 to August 2 019. Percutaneous transcatheter pulmonary valvuloplasty was performed first and then transcatheter closure of the ASD uneventfully.RESULTS All cases were successfully treated with transcatheter balloon pulmonary valvuloplasty and closure of ASD respectively via femoral vein approach solely under TTE guidance. The mean defect size was 8.1±1.4 mm (range: 5.5-10 mm), the preoperative mean pressure gradient across pulmonary valve was 61.2±5.5 mmHg (range: 51-71 mmHg). The mean device size used was 11.1±1.9 mm (range: 8- 14 mm), the mean procedure time was 55.1±8.0 min (range: 45-71 min). There were no serious cardiovascular related complications. During the follow-up period (10 mon to 47mon), no arrhythmias device, thrombosis, residual fistulas or device frame fractures were detected. PS gradient had significant difference before and after procedure during the follow up (t=28.9, P =0.000).CONCLUSION Simultaneous transcatheter treatment for ASD complicated by PS in children under TTE guidance is an safe and effective therapeutic option.

scholarly journals Incidentally identified ductus arteriosus aneurysm in eight adults: a case series

2021 ◽  
pp. 20200097
Author(s):  
Mayo Yukimoto ◽  
Tomohisa Okuma ◽  
Etsuji Sohgawa ◽  
Mariko M Nakano ◽  
Taro Shimono ◽  
...  
Keyword(s):  
Ductus Arteriosus ◽  
Three Dimensional ◽  
Case Series ◽  
Risk Of Rupture ◽  
Radiographic Screening ◽  
Dimensional Reconstruction ◽  
History Of ◽  
Ductus Arteriosus Aneurysm ◽  
Lost To Follow Up

Ductus arteriosus aneurysm (DAA) in adulthood is a rare entity. We retrospectively reviewed our medical records from the past ten years and identified eight cases of adult DAA (six males and two females aged between 69 and 89 years; mean, 76 years), using multi planar reconstruction and three-dimensional reconstruction computed tomography (CT) images. The aneurysm was suspected incidentally in all cases based on the results of chest radiographic screening or postoperative follow-up CT for lung or colon cancer. All eight patients were asymptomatic but had a history of or concurrent hypertension (n = 5, 62.5%), diabetes mellitus (n = 3, 37.5%), cerebrovascular disease (n = 3, 37.5%), ischemic heart disease (n = 1, 12.5%), and cardiac failure (n = 1). All patients had no history of trauma (n = 8, 100%). Six had a history of cigarette smoking. The aneurysm size ranged from 2.0 × 4.0 to 6.3 × 5.3 cm (mean, 3 × 5 cm). The surgical procedures used were four cases of total arch replacement and two cases of thoracic endovascular aortic repair. Two patients were not surgically treated. The median follow-up was 14.5 months (range, 2 months to 9 years). In the two patients who were not surgically treated, the aneurysm enlarged in one, and remained unchanged in the other. Of the six cases surgically-managed cases, one was lost to follow-up, and another patient died of an unrelated cause. The remaining four cases had no enlargement of the aneurysm. No ruptures were reported in any of the cases. DAA should be considered when a saccular aneurysm is located in the minor curvature of the aortic arch and extending toward the left pulmonary trunk in adult patients. Differentiating adult DAA is important, because it is associated with a high risk of rupture due to the fragile nature of true aneurysms.

Epidemiological analysis of neonatal CHD near Petrochemical Complex

2019 ◽  
Vol 30 (2) ◽  
pp. 287-290
Author(s):  
Ye Chen ◽  
Lei-Jun Huang
Keyword(s):  
Physical Examination ◽  
Septal Defect ◽  
Ductus Arteriosus ◽  
Pulmonary Artery Stenosis ◽  
Epidemiological Analysis ◽  
Live Births ◽  
Petrochemical Complex ◽  
Significant Difference ◽  
High Incidence

AbstractObjective:To study the incidence, types, and characteristics of CHD in all live births delivered in Jinshan Hospital from 1 January, 2016 to 31 December, 2017, and to analyse the correlation between CHD and the distance between maternal residence and Shanghai Petrochemical Complex.Methods:All live births, delivered in Jinshan Hospital in 2016 and 2017, have received CHD screening and neonatal follow-up after delivery. For those both positive for CHD screening and negative for CHD screening but with heart murmur found during physical examination on neonatal follow-up after delivery, echocardiography was performed to confirm CHD diagnosis. All maternal residential addresses have been grouped for analysis according to the distance between maternal residence and Shanghai Petrochemical Complex.Results:There were 5544 live births in total, and a total of 79 children with CHD were confirmed by CHD screening and echocardiography, of which the types of diseases with high incidence, in descending order of incidence, are atrial septal defect (48/79), ventricular septal defect (25/79), patent ductus arteriosus (21/79), and pulmonary artery stenosis (9/79). There was no statistically significant difference in the incidence of CHD among the groups divided by the distance between maternal residence and Shanghai Petrochemical Complex. The incidence of neonatal CHD near Shanghai Petrochemical Complex is 1.42%.Conclusions:Most of the children with CHD can be screened out through CHD screening and physical examination in neonatal period and early infancy stage. The distance between maternal residence and Shanghai Petrochemical Complex has no significant direct effect on the incidence of CHD in neonates near Shanghai Petrochemical Complex.

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