Cardiovascular anomalies in Seckel syndrome: report of two patients and review of the literature

2021 ◽  
pp. 1-4
Author(s):  
Yasemin Nuran Donmez ◽  
Dilek Giray ◽  
Serdar Epcacan ◽  
Emine Goktas ◽  
Ebru Aypar
Keyword(s):  
Dilated Cardiomyopathy ◽  
Autosomal Recessive ◽  
Septal Defect ◽  
Heart Diseases ◽  
Autosomal Recessive Disorder ◽  
Ventricular Septal Defects ◽  
Seckel Syndrome ◽  
Septal Defects ◽  
Cardiovascular Evaluation ◽  
Cardiovascular Anomalies

Abstract Seckel syndrome is a very rare autosomal recessive disorder also known as bird headed dwarfism”. It is characterised by proportional short stature, low birth weight, dysmorphic facial appearance, and mental retardation. In addition to its dysmorphic features, skeletal, endocrine, gastrointestinal, haematologic, genitourinary, and nervous system has been involved. Cardiovascular features very rarely associate with Seckel syndrome. We report two patients with Seckel syndrome, one with dilated cardiomyopathy and the other with multiple ventricular septal defects. Dilated cardiomyopathy and isolated ventricular septal defect have not been previously reported in Seckel syndrome. Cardiovascular evaluation should be performed in all patients with Seckel syndrome. Early diagnosis of congenital and acquired heart diseases will reduce morbidity and mortality in these patients.

Maternal serum-derived exosomal lactoferrin as a marker in detecting and predicting ventricular septal defect in fetuses

2021 ◽  
pp. 153537022110605
Author(s):  
Suping Li ◽  
Yuxia Jin ◽  
Ping Tang ◽  
Xiaodan Liu ◽  
Xiaojun Chai ◽  
...  
Keyword(s):  
Ventricular Septal Defect ◽  
Septal Defect ◽  
Early Stage ◽  
Heart Diseases ◽  
Maternal Serum ◽  
Ventricular Septal Defects ◽  
Screening Programs ◽  
Septal Defects ◽  
Potential Biomarker ◽  
And Control

Among different types of congenital heart diseases, ventricular septal defect is the most frequently diagnosed type and is frequently missed in early prenatal screening programs. Herein, we explored the role of maternal serum-derived exosomes in detecting and predicting ventricular septal defect in fetuses in the early stage of pregnancy. A total of 104 pregnant women consisting of 52 ventricular septal defect cases and 52 healthy controls were recruited. TMT/iTRAQ proteomic analysis uncovered 15 maternal serum exosomal proteins, which showed differential expression between ventricular septal defect and control groups. Among these, four down-regulated proteins, lactoferrin, SBSN, DCD, and MBD3, were validated by Western blot. The protein lactoferrin was additionally verified by ELISA which was able to distinguish ventricular septal defects from controls with area under the ROC curve (AUC) 0.804 (p < 0.001). Our findings reveal that lactoferrin in maternal serum-derived exosomes may be a potential biomarker for non-invasive prenatal diagnosis of fetal ventricular septal defects.

scholarly journals Genetic testing for ventricular septal defect

2018 ◽  
Vol 2 (s1) ◽  
pp. 51-54
Author(s):  
Yeltay Rakhmanov ◽  
Paolo Enrico Maltese ◽  
Francesca Fanelli ◽  
Tommaso Beccari ◽  
Munis Dundar ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Septal Defect ◽  
Autosomal Dominant ◽  
Clinical Presentation ◽  
Autosomal Recessive Inheritance ◽  
Spontaneous Closure ◽  
Ventricular Septal Defects ◽  
Septal Defects ◽  
Gene Test ◽  
Vascular Beds

Abstract Ventricular septal defects (VSDs) are the commonest heart malformations and may affect the membranous or the muscular septum. Clinical presentation depends on the amount of interventricular flow, which is determined by the size of the defect and the relative resistances of the pulmonary and systemic vascular beds. The prevalence of VSD is estimated at about 5% among infants. Many small malformations present at birth may later undergo spontaneous closure. VSD may have autosomal dominant or autosomal recessive inheritance and may exist as isolated forms or as part of a syndrome. This Utility Gene Test was developed on the basis of an analysis of the literature and existing diagnostic protocols. It is useful for confirming diagnosis, as well as for differential diagnosis, couple risk assessment and access to clinical trials.

Arterial switch procedure and hybrid muscular ventricular septal defect closure in a patient with d-transposition of the great arteries and multiple ventricular septal defects: a case report and literature review

2019 ◽  
Vol 29 (12) ◽  
pp. 1530-1532
Author(s):  
Jack J. C. Gibb ◽  
Massimo Caputo ◽  
Demetris Taliotis
Keyword(s):  
Ventricular Septal Defect ◽  
Septal Defect ◽  
Heart Diseases ◽  
Arterial Switch Operation ◽  
Defect Closure ◽  
Ventricular Septal Defects ◽  
Arterial Switch ◽  
Muscular Ventricular Septal Defect ◽  
Septal Defects ◽  
Ventricular Septal Defect Closure

AbstractHybrid cardiac surgery involves simultaneous catheter based and surgical treatment of heart diseases. We report a complete repair of dextro-transposition of the great arteries and perimembranous and muscular ventricular septal defects in a 5-month-old girl. This included an arterial switch operation followed by an off-bypass, echocardiographically guided per-ventricular muscular ventricular septal defect closure.

Delayed Closure of Multiple Muscular Ventricular Septal Defects in an Infant after Coarctation Repair and a Hybrid Procedure�A Case Report

2011 ◽  
Vol 14 (1) ◽  
pp. 67 ◽  
Author(s):  
Ireneusz Haponiuk ◽  
Maciej Chojnicki ◽  
Radosaw Jaworski ◽  
Jacek Juciski ◽  
Mariusz Steffek ◽  
...  
Keyword(s):  
Septal Defect ◽  
Color Doppler ◽  
Hybrid Approach ◽  
Ventricular Septal Defects ◽  
Color Doppler Echocardiography ◽  
Septal Defects ◽  
Coarctation Repair ◽  
Step Procedure ◽  
The Right ◽  
Delayed Closure

There are several strategies of surgical approach for the repair of multiple muscular ventricular septal defects (mVSDs), but none leads to a fully predictable, satisfactory therapeutic outcome in infants. We followed a concept of treating multiple mVSDs consisting of a hybrid approach based on intraoperative perventricular implantation of occluding devices. In this report, we describe a 2-step procedure consisting of a final hybrid approach for multiple mVSDs in the infant following initial coarctation repair with pulmonary artery banding in the newborn. At 7 months, sternotomy and debanding were performed, the right ventricle was punctured under transesophageal echocardiographic guidance, and the 8-mm device was implanted into the septal defect. Color Doppler echocardiography results showed complete closure of all VSDs by 11 months after surgery, probably via a mechanism of a localized inflammatory response reaction, ventricular septum growth, and implant endothelization.

Axillary artery: An unanticipated choice of access in the cath lab!

2021 ◽  
pp. 021849232110264
Author(s):  
Puneet Varma ◽  
Bharath A Paraswanath ◽  
Anand Subramanian ◽  
Jayaranganath Mahimarangaiah
Keyword(s):  
Hospital Stay ◽  
Heart Surgery ◽  
Septal Defect ◽  
Axillary Artery ◽  
Open Heart Surgery ◽  
Open Heart ◽  
Ventricular Septal Defects ◽  
Septal Defects ◽  
Rare Site

Ventricular septal defects are increasingly being closed by transcatheter technique, with lesser morbidity and shorter hospital stay compared to open heart surgery. We report a case of embolization of a duct occluder deployed in a posterior muscular septal defect. The rare site of embolization necessitated an unusual approach for retrieval prior to subsequent closure using a double-disc device.

Increased Prevalence of Ventricular Septal Defect: Epidemic or Improved Diagnosis

PEDIATRICS ◽  
1989 ◽  
Vol 83 (2) ◽  
pp. 200-203
Author(s):  
Gerard R. Martin ◽  
Lowell W. Perry ◽  
Charlotte Ferencz
Keyword(s):  
Ventricular Septal Defect ◽  
Septal Defect ◽  
Ductus Arteriosus ◽  
Coarctation Of The Aorta ◽  
Cardiovascular Malformations ◽  
Ventricular Septal Defects ◽  
Live Births ◽  
Septal Defects ◽  
Clinical Diagnoses ◽  
Control Study

The Baltimore-Washington Infant Study is an ongoing case-control study of congenital cardiovascular malformations in infants in whom the clinical diagnoses have been confirmed by echocardiography, catheterization, surgery, or autopsy. An increase in the prevalence of ventricular septal defects was detected in 1,494 infants with congenital cardiovascular malformations between 1981 and 1984. The prevalence of congenital cardiovascular malformations increased from 3.6 to 4.5 per 1,000 live births (P&lt;.025) and the prevalence of ventricular septal defect increased from 1.0 to 1.6 per 1,000 live births (P&lt; .001). The increase in ventricular septal defects accounted for the total increase in congenital cardiovascular malformations. The prevalence of isolated ventricular septal defect increased from 0.67 to 1.17 per 1,000 live births (P&lt;.001). The prevalence of ventricular septal defect with associated coarctation of the aorta, patent ductus arteriosus, atrial septal defect, and pulmonic stenosis did not change. The prevalence of ventricular septal defect diagnosed by catheterization, surgery, and autopsy did not change; however, defects diagnosed by echocardiography increased from 0.30 to 0.70 per 1,000 live births (P&lt;.001). It is concluded that the reported increase in prevalence of ventricular septal defect is due to improved detection of small, isolated ventricular septal defects and that there is no evidence of an "epidemic."

scholarly journals Characterization of SMAD3 Gene Variants for Possible Roles in Ventricular Septal Defects and Other Congenital Heart Diseases

PLoS ONE ◽  
2015 ◽  
Vol 10 (6) ◽  
pp. e0131542 ◽  
Author(s):  
Fei-Feng Li ◽  
Jing Zhou ◽  
Dan-Dan Zhao ◽  
Peng Yan ◽  
Xia Li ◽  
...  
Keyword(s):  
Congenital Heart ◽  
Heart Diseases ◽  
Congenital Heart Diseases ◽  
Gene Variants ◽  
Ventricular Septal Defects ◽  
Septal Defects

scholarly journals Percutaneous-perventricular device closure of ventricular septal defect: mid-term follow-up.

2020 ◽  
Author(s):  
Long Wang ◽  
Lin Xie ◽  
Weiqiang Ruan ◽  
Tao Li ◽  
Changping Gan ◽  
...  
Keyword(s):  
Ventricular Septal Defect ◽  
Septal Defect ◽  
Close Monitoring ◽  
The Novel ◽  
Ventricular Septal Defects ◽  
Device Closure ◽  
Residual Shunt ◽  
Septal Defects ◽  
Perventricular Device Closure

Abstract Background: This report presents updated data and mid-term follow-up information to a former study introducing the novel technique of percutaneous-perventricular device closure of doubly committed subarterial ventricular septal defect. Methods: Thirty-eight patients were added to the former series. There were 54 patients in total who had isolated doubly committed subarterial ventricular septal defects and underwent percutaneous-perventricular device closure. Closure outcomes and possible complications were measured in the hospital and during the 2.5-year follow-up. Results: Surgery was successful in 53 patients (98.1%). There was no death, residual shunt, new valve regurgitation or arrhythmia either perioperatively or during the entire follow-up period. Only one patient developed pericardial effusion and tamponade in the former series. The mean hospital stay was 3.2±0.6 days (range, 3.0 to 6.0 days), and only one unsuccessful case needed blood transfusion (1.9%). Conclusions: The percutaneous-perventricular device closure of isolated doubly committed subarterial ventricular septal defects appeared to be safe. Close monitoring for bleeding is essential postoperatively, especially in younger patients. This technique is generally safe with acceptable mid-term follow-up.

Clinical course in children and adolescents with ventricular septal defect

2019 ◽  
Vol 27 (7) ◽  
pp. 529-534
Author(s):  
Noor Mohammad Noori ◽  
Alireza Teimouri
Keyword(s):  
Pulmonary Hypertension ◽  
Ventricular Septal Defect ◽  
Septal Defect ◽  
Clinical Course ◽  
Defect Size ◽  
Eisenmenger Syndrome ◽  
Ventricular Septal Defects ◽  
Laboratory Findings ◽  
Septal Defects

Background Ventricular septal defect, the most common congenital heart defect, is characterized by an opening between the ventricles. This study aimed to evaluate the clinical course and associations between the characteristics of ventricular septal defect. Methods This cross-sectional study was conducted on 1498 children with ventricular septal defects, aged <19 years, who were referred to our center between 2003 and 2018. The diagnosis was suspected from a combination of clinical and laboratory findings, and confirmed by transthoracic echocardiography. Results Of the 1498 children, 54.9% were boys, 78.4% of defects were perimembranous, 30.4% of patients had pulmonary hypertension, 67.5% had regular follow-up, and 76 (5.1%) had complications including 28 (1.9%) with Eisenmenger syndrome; 10 died due to Eisenmenger syndrome during follow-up. The defects closed spontaneously in 38.9% and after surgery in 20.9%. Boys tended to have more perimembranous, inlet, and outlet forms (56.40%, 50.60%, 51.90%, respectively), whereas girls had more muscular types (51.80%). Most patients with pulmonary hypertension had perimembranous defects (83.10%). The majority of patients with pulmonary hypertension had large (63.40%) or moderate (36.60%) defects. Pulmonary hypertension had a significant association with defect size ( p < 0.001). After surgery, residual defects were found mostly in cases of large defects (84.60%). Most patients with spontaneous closure were younger than 4 years. Conclusion Almost four-fifths of children with ventricular septal defects had perimembranous types, and almost one-third had pulmonary hypertension which was associated with defect size. Two-fifths of the defects closed spontaneously. There was a low incidence of complications after surgery.

Transcatheter closure of ventricular septal defect with Occlutech Duct Occluder

2018 ◽  
Vol 28 (4) ◽  
pp. 598-601 ◽  
Author(s):  
Sezen Atik-Ugan ◽  
Irfan Levent Saltik
Keyword(s):  
Ventricular Septal Defect ◽  
Patent Ductus Arteriosus ◽  
Septal Defect ◽  
Transcatheter Closure ◽  
Ductus Arteriosus ◽  
Ventricular Septal Defects ◽  
Septal Defects ◽  
Patent Ductus

AbstractPatent ductus arteriosus occluders are used for transcatheter closure of ventricular septal defects, as well as for closure of patent ductus arteriosus. The Occlutech Duct Occluder is a newly introduced device for transcatheter closure of patent ductus arteriosus. Here, we present a case in which the Occlutech Duct Occluder was successfully used on a patient for the closure of a perimembraneous ventricular septal defect.

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