Full Text Journal Articles about
Muscular Ventricular Septal Defect

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Percutaneous Repair of Ventricular Ruptures.

Rong Bing, Miles W.H. Behan, Renzo Pessotto, Nicholas L.M. Cruden, David B. Northridge,

Acquired ventricular wall ruptures can be life-threatening. Depending on the pathological features and anatomy, surgical repair can be technically… ... Read more >>

JACC Case Rep (Jacc. Case Reports)
[0, 2(3):341-346]

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Two novel cases further expand the phenotype of TOR1AIP1-associated nuclear envelopathies.

Ivana Lessel, Mei-Jan Chen, Sabine Lüttgen, Florian Arndt, Sigrid Fuchs, Stefanie Meien, Holger Thiele, Julie R Jones, Brandon R Shaw, David K Crossman, Peter Nürnberg, Bruce R Korf, Christian Kubisch, Davor Lessel,

Biallelic variants in TOR1AIP1, encoding the integral nuclear membrane protein LAP1 (lamina-associated polypeptide 1) with two functional isoforms LAP1B and LAP1C, have initially been linked to muscular dystrophies with variable cardiac and neurological impairment. Furthermore, a recurrent homozygous nonsense alteration, resulting in loss of both LAP1 isoforms, was identified in ... Read more >>

Hum. Genet. (Human genetics)
[2020, 139(4):483-498]

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Transcatheter Closure of Perimembranous Ventricular Septal Defects Using Different Generations of Amplatzer Devices: Multicenter Experience.

Roberto Mijangos-Vázquez, Amal El-Sisi, Juan P Sandoval Jones, José A García-Montes, Rogelio Hernández-Reyes, Rodina Sobhy, Antoine Abdelmassih, Mohammed M Soliman, Safaa Ali, Tatiana Molina-Sánchez, Carlos Zabal,

Objectives:To demonstrate safety and efficacy of using different generations of softer Amplatzer™ devices for ventricular septal defect (VSD) closure to avoid serious complications at follow-up. Background:Transcatheter closure of perimembranous ventricular septal defects (PmVSD) is a well-established procedure; however, it is associated with unacceptable incidence of complete heart block. Great advantages ... Read more >>

J Interv Cardiol (Journal of Interventional Cardiology)
[2020, 2020:8948249]

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Quantification of Initial Right Ventricular Dimensions by Computed Tomography in Infants with Congenital Heart Disease and a Hypoplastic Right Ventricle.

Hyun Woo Goo,

OBJECTIVE:To demonstrate the feasibility of using cardiothoracic CT for quantification of the initial right ventricle (RV) dimensions in infants with congenital heart disease (CHD) and a hypoplastic RV and to compare these measurements with those obtained in a control group with CHD without a hypoplastic RV. MATERIALS AND METHODS:Initial RV ... Read more >>

Korean J Radiol (Korean journal of radiology)
[2020, 21(2):203-209]

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Isolated ventricular septal defects demonstrated by fetal echocardiography: prenatal course and postnatal outcome.

Alona Raucher Sternfeld, Amichai Sheffy, Akiva Tamir, Yossi Mizrachi, Sagie Assa, Mordechai Shohat, Rachel Berger, Dorit Lev, Liat Gindes,

Objectives: We assessed the natural history of the different types of isolated ventricular septal defects (VSDs) diagnosed by fetal echocardiography and analyzed their postnatal outcomes.Methods: This is a retrospective cohort study of 86 fetuses with isolated VSDs, detected in 7466 sequential echocardiographic examinations. The subtype and size of the VSDs ... Read more >>

J. Matern. Fetal. Neonatal. Med. (The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians)
[2020, :1-5]

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Spontaneous closure of muscular ventricular septal defect by growth of right ventricular muscle bundles: a rare mechanism.

Ahmad Charaf Eddine, Gilda Kadiu, Yamuna Sanil,

We present a case of an 18-year-old male with large anterior muscular ventricular septal defect. Assessment by echocardiography showed that the defect has completely closed by the growth of muscle bundles that formed a pouch-like structure on the right ventricular side. This unusual mechanism of closure has been reported in ... Read more >>

Cardiol Young (Cardiology in the young)
[2019, :1-3]

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Current era outcomes of pulmonary atresia with ventricular septal defect: A single center cohort in Thailand.

Kanthalas Lertsakulpiriya, Chodchanok Vijarnsorn, Prakul Chanthong, Paweena Chungsomprasong, Supaluck Kanjanauthai, Kritvikrom Durongpisitkul, Jarupim Soongswang, Thaworn Subtaweesin, Somchai Sriyoschati,

Pulmonary atresia with ventricular septal defect (PA/VSD) is a complex cyanotic congenital heart disease with a wide-range of presentations and treatment strategies, depending on the source of pulmonary circulation, anatomy of pulmonary arteries (PAs), and major aortopulmonary collateral arteries (MAPCAs). Data about the outcomes in developing countries is scarce. We ... Read more >>

Sci Rep (Scientific reports)
[2020, 10(1):5165]

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Protein expression profile changes of lung tissue in patients with pulmonary hypertension.

Min Wu, Yijin Wu, Jinsong Huang, Yueheng Wu, Hongmei Wu, Benyuan Jiang, Jian Zhuang,

Background:Pulmonary hypertension occurs in approximately 1% of the global population, and the prognosis for such patients may be poor. However, the mechanisms underlying the development of this disease remain unclear. Thus, understanding the development of pulmonary hypertension and finding new therapeutic targets and approaches are important for improved clinical outcomes. ... Read more >>

PeerJ (PeerJ)
[2020, 8:e8153]

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Use of Lifetech™ Konar-MF, a device for both perimembranous and muscular ventricular septal defects: A multicentre study.

Ibrahim Cansaran Tanidir, Osman Baspinar, Murat Saygi, Mehmet Kervancioglu, Alper Guzeltas, Ender Odemis,

BACKGROUND:The objective of this study was to evaluate the safety and efficacy of transcatheter closure of ventricular septal defects (VSD) using the LifeTech™ multifunctional occluder device (MF-Konar). METHODS:Clinical features and demographic characteristics and follow-up findings were evaluated retrospectively from three centers. RESULTS:MF-Konar was used in 98 patients. The median age ... Read more >>

Int. J. Cardiol. (International journal of cardiology)
[2020, :]

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Loss of Asb2 Impairs Cardiomyocyte Differentiation and Leads to Congenital Double Outlet Right Ventricle.

Abir Yamak, Dongjian Hu, Nikhil Mittal, Jan W Buikema, Sheraz Ditta, Pierre G Lutz, Christel Moog-Lutz, Patrick T Ellinor, Ibrahim J Domian,

Defining the pathways that control cardiac development facilitates understanding the pathogenesis of congenital heart disease. Herein, we identify enrichment of a Cullin5 Ub ligase key subunit, Asb2, in myocardial progenitors and differentiated cardiomyocytes. Using two conditional murine knockouts, Nkx+/Cre.Asb2fl/fl and AHF-Cre.Asb2fl/fl, and tissue clarifying technique, we reveal Asb2 requirement for embryonic ... Read more >>

iScience (iScience)
[2020, 23(3):100959]

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What should we consider in the case of combined Down- and 47,XY,+i(X)(q10) Klinefelter syndromes? The unique case of a male newborn and review of the literature.

Eva Pinti, Anna Lengyel, Gyorgy Fekete, Iren Haltrich,

BACKGROUND:Double aneuploidies - especially in combination with structural aberrations - are extremely rare among liveborns. The most frequent association is that of Down (DS) and Klinefelter syndromes (KS). We present the case of a male newborn with a unique 47,XY,+ 21[80%]/48,XY,+i(X)(q10),+ 21[20%] karyotype, hypothesize about his future phenotype, discuss the aspects of ... Read more >>

BMC Pediatr (BMC pediatrics)
[2020, 20(1):17]

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Clinical exome sequencing revealed that FLNC variants contribute to the early diagnosis of cardiomyopathies in infant patients.

Feifan Xiao, Qiufen Wei, Bingbing Wu, Xu Liu, Aiyao Mading, Lin Yang, Yan Li, Fang Liu, Xinnian Pan, Huijun Wang,

Background:FLNC encodes actin-binding protein and is mainly concentrated in skeletal and cardiac muscle. Mutations in FLNC were found in cardiomyopathies. To date, studies on FLNC-cardiomyopathies have mainly been reported in adults. There are limited studies that have investigated FLNC variants in pediatric patients with cardiomyopathies. Methods:We summarized the patients who ... Read more >>

Transl Pediatr (Translational pediatrics)
[2020, 9(1):21-33]

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Genomic analysis of a spinal muscular atrophy (SMA) discordant family identifies a novel mutation in TLL2, an activator of growth differentiation factor 8 (myostatin): a case report.

Jianping Jiang, Jinwei Huang, Jianlei Gu, Xiaoshu Cai, Hongyu Zhao, Hui Lu,

BACKGROUND:Spinal muscular atrophy (SMA) is a rare neuromuscular disorder threating hundreds of thousands of lives worldwide. And the severity of SMA differs among different clinical types, which has been demonstrated to be modified by factors like SMN2, SERF1, NAIP, GTF2H2 and PLS3. However, the severities of many SMA cases, especially ... Read more >>

BMC Med. Genet. (BMC medical genetics)
[2019, 20(1):204]

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A severe case of Frank-ter Haar syndrome and literature review: Further delineation of the phenotypical spectrum.

Benjamin Durand, Corinne Stoetzel, Elise Schaefer, Nadège Calmels, Sophie Scheidecker, Nadine Kempf, Charlie De Melo, Anne-Sophie Guilbert, Dana Timbolschi, Leonardo Donato, Dominique Astruc, Arnaud Sauer, Maria Cristina Antal, Hélène Dollfus, Salima El Chehadeh,

Frank-ter Haar syndrome (FTHS) is a rare autosomal recessive syndrome resulting from mutations in the SH3PXD2B gene involved in the formation of podosomes and invadopodia which have a role in extracellular matrix remodelling and cell migration. FTHS is characterized by facial dysmorphism, megalocornea, inconstant glaucoma, variable developmental delay, skeletal and ... Read more >>

Eur J Med Genet (European journal of medical genetics)
[2020, :103857]

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Long-Term Results of Transcatheter Closure of Large Patent Ductus Arteriosus with Severe Pulmonary Arterial Hypertension in Pediatric Patients.

Jayal Hasmukhbhai Shah, Dharmin Khimjibhai Bhalodiya, Abhishek Pravinchandra Rawal, Tushar Sudhakarrao Nikam,

Aims:Patent ductus arteriosus (PDA) is one of the most commonly seen congenital heart diseases prevalent today. The aim of this study is to evaluate the safety and efficacy of transcatheter closure of hypertensive ductus at long-term follow-up. Materials and Methods:Transcatheter closure was attempted in 52 patients with hypertensive ductus arteriosus. ... Read more >>

Int J Appl Basic Med Res (International journal of applied & basic medical research)
[2020, 10(1):3-7]

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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.

Jack J C Gibb, Massimo Caputo, Demetris Taliotis,

Hybrid 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 ... Read more >>

Cardiol Young (Cardiology in the young)
[2019, 29(12):1530-1532]

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Guidelines for the management of myocardial infarction/injury with non-obstructive coronary arteries (MINOCA): a position paper from the Dutch ACS working group.

T F S Pustjens, Y Appelman, P Damman, J M Ten Berg, J W Jukema, R J de Winter, W R P Agema, M L J van der Wielen, F Arslan, S Rasoul, A W J van 't Hof,

Patients with myocardial infarction and non-obstructive coronary arteries (MINOCA), defined as angiographic stenosis <50%, represent a conundrum given the many potential underlying aetiologies. Possible causes of MINOCA can be subdivided into coronary, myocardial and non-cardiac disorders. MINOCA is found in up to 14% of patients presenting with an acute coronary syndrome. ... Read more >>

Neth Heart J (Netherlands heart journal : monthly journal of the Netherlands Society of Cardiology and the Netherlands Heart Foundation)
[2020, 28(3):116-130]

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Diagnosis and Surgical Repair for Coarctation of the Aorta With Intracardiac Defects: A Single Center Experience Based on 93 Infants.

Yuhao Wu, Jiashan Li, Chun Wu, Jin Zhu, Ling He, Chuan Feng, Yiting Yang, Xin Jin,

Introduction: This study aims to summarize the clinical characteristics of coarctation of the aorta (CoA) associated with intracardiac anomalies in infants. Methods: Medical records of 93 infants who were diagnosed with CoA and intracardiac anomalies from August 2009 to August 2018 were retrospectively reviewed. Results: All of the 93 infants ... Read more >>

Front Pediatr (Frontiers in Pediatrics)
[2020, 8:49]

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Swiss Cheese Defect of the Ventricular Septum.

Christopher Kloth, Florian Sagmeister, Horst Brunner,

Dtsch Arztebl Int (Deutsches Arzteblatt international)
[2020, 117(3):40-40]

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Mystery still unresolved: Untouched "Blue heart" presenting at 40yrs of age.

Sanjeev H Naganur, Ashish Tiwari, C R Pruthvi,

The modern-day surgical techniques and strategies have changed the outlook of patients with dextro-transposition of great arteries (d-TGA). The survival of an unrepaired d-TGA into late adulthood is difficult to explain. Even when large intracardiac shunts are present, it still remains a lethal cyanotic congenital heart disease if it is ... Read more >>

Ann Pediatr Cardiol (Annals of pediatric cardiology)
[2020, 13(1):72-74]

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Hybrid procedure for treating adult congenital heart disease with valvular heart disease in two patients.

Chun-Sheng Li, Zhong Lu, Xiao-Rong Song, Zhong-Ya Yan,

BACKGROUND:The traditional approach for adult congenital heart disease combined with valvular disease is surgical treatment under cardiopulmonary bypass (CPB). This approach has a high incidence of postoperative complications, especially in patients with pulmonary hypertension and old age. We present two patients in whom the hybrid procedure was used to treat ... Read more >>

J Cardiothorac Surg (Journal of cardiothoracic surgery)
[2019, 14(1):180]

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Paternal age is affected by genetic abnormalities, perinatal complications and mental health of the offspring.

Dominika Janeczko, Magdalena Hołowczuk, Anna Orzeł, Barbara Klatka, Andrzej Semczuk,

Infertility and fecundity problems concern 10-18% of partners in their reproductive years compromising around one million females and males in Poland. Research and analysis of factors that affect male fertility are limited, especially, regarding the age of the father and determining the age at which quality of semen decreases. Age ... Read more >>

Biomed Rep (Biomedical Reports)
[2020, 12(3):83-88]

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A case presentation of patient from northern China with endomyocardial fibrosis.

Yonggang Yuan, Yingkai Li, Zesheng Xu,

BACKGROUND:Endomyocardial fibrosis (EMF) is a rare condition and a major cause of death in tropical countries. The etiology of EMF remains elusive, and no specific treatment has been developed yet, therefore it carries poor prognosis. CASE PRESENTATION:An 81-year-old male Chinese patient with a history of long-standing exertional breathlessness, presented with ... Read more >>

BMC Cardiovasc Disord (BMC cardiovascular disorders)
[2019, 19(1):313]

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Health-Related Physical Fitness and Quality of Life in Children and Adolescents With Isolated Left-to-Right Shunt.

Angeles Fuertes Moure, Michael Meyer, Anna-Luisa Häcker, Barbara Reiner, Leon Brudy, Renate Oberhoffer, Peter Ewert, Jan Müller,

Objective: Atrial (ASD) and ventricular septal defects (VSD) represent the most common congenital heart defects (CHD) and are considered simple and curable. This study investigates long-term functional outcomes in children with such defects. Patients and Methods : We examined 147 patients (74 girls, 12.1 ± 3.5 years) with isolated shunts ... Read more >>

Front Pediatr (Frontiers in pediatrics)
[2019, 7:488]

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Anatomically corrected malposition of great arteries: A nidus for the left ventricular outflow tract obstruction.

Palak Gupta, Kalyanraddi N Chikkagoudar, Nageswara Rao Koneti,

Ann Pediatr Cardiol (Annals of pediatric cardiology)
[2020, 13(1):105-106]

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