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Pediatric Mitral Valve Prolapse

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Biventricular reverse remodeling and relationship with mitral valve prolapse after transcatheter closure of ASD secundum, a 3D echocardiographic study.

Amal El-Sisi, Shaheen Dabour, Aya M Fattouh, Effat Assar, Rasha Naguib, Antoine Fakhry AbdelMassih,

Introduction: Mitral valve prolapse (MVP) is the most common anomaly of the mitral valve. Several studies have shown prevalence of MVP in atrial septal defect (ASD) especially secundum types (II). The aims of this study is to show the potential role of 3D echocardiography in improving the diagnosis of MVP ... Read more >>

J Cardiovasc Thorac Res (Journal of cardiovascular and thoracic research)
[2020, 12(1):15-19]

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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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Lyme Endocarditis as an Emerging Infectious Disease: A Review of the Literature.

Aleksandra Nikolić, Darko Boljević, Milovan Bojić, Stefan Veljković, Dragana Vuković, Bianca Paglietti, Jelena Micić, Salvatore Rubino,

Lyme endocarditis is extremely rare manifestation of Lyme disease. The clinical manifestations of Lyme endocarditis are non-specific and can be very challenging diagnosis to make when it is the only manifestation of the disease. Until now, only a few cases where reported. Physicians should keep in mind the possibility of ... Read more >>

Front Microbiol (Frontiers in Microbiology)
[2020, 11:278]

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Features of Marfan syndrome not listed in the Ghent nosology - the dark side of the disease.

Yskert von Kodolitsch, Anthony Demolder, Evaldas Girdauskas, Harald Kaemmerer, Katharina Kornhuber, Laura Muino Mosquera, Shaine Morris, Enid Neptune, Reed Pyeritz, Svend Rand-Hendriksen, Alexander Rahman, Nina Riise, Leema Robert, Ingmar Staufenbiel, Katalin Szöcs, Thy Thy Vanem, Stephan J Linke, Marina Vogler, Anji Yetman, Julie De Backer,

Introduction: The revised Ghent nosology presents the classical features of Marfan syndrome. However, behind its familiar face, Marfan syndrome hides less well-known features.Areas covered: The German Marfan Organization listed unusual symptoms and clinical experts reviewed the literature on clinical features of Marfan syndrome not listed in the Ghent nosology. Thereby ... Read more >>

Expert Rev Cardiovasc Ther (Expert review of cardiovascular therapy)
[2019, 17(12):883-915]

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Streptococcus pyogenes Endocarditis Associated With Varicella-Case Report and Review of the Literature.

Patrizia Savoia, Ulrich Heininger, Michael Buettcher,

Infection with varicella zoster virus (VZV) is usually a benign and self-limiting disease. Serious complications by bacterial pathogens do occur, such as necrotising fasciitis (NF). One of the most important is Streptococcus pyogenes (or Group A Streptococcus, GAS), which colonizes epithelial surfaces, primarily of the throat and skin. In rare ... Read more >>

Front Pediatr (Frontiers in pediatrics)
[2019, 7:500]

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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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Case-matched Comparison of Cardiovascular Outcome in Loeys-Dietz Syndrome versus Marfan Syndrome.

Kristina Mühlstädt, Julie De Backer, Yskert von Kodolitsch, Kerstin Kutsche, Laura Muiño Mosquera, Jens Brickwedel, Evaldas Girdauskas, Thomas S Mir, Adrian Mahlmann, Nikolaos Tsilimparis, Axel Staebler, Lauritz Schoof, Heide Seidel, Jürgen Berger, Alexander M Bernhardt, Stefan Blankenberg, Tilo Kölbel, Christian Detter, Katalin Szöcs, Harald Kaemmerer,

Background: Pathogenic variants in TGFBR1, TGFBR2 and SMAD3 genes cause Loeys-Dietz syndrome, and pathogenic variants in FBN1 cause Marfan syndrome. Despite their similar phenotypes, both syndromes may have different cardiovascular outcomes. Methods: Three expert centers performed a case-matched comparison of cardiovascular outcomes. The Loeys-Dietz group comprised 43 men and 40 ... Read more >>

J Clin Med (Journal of clinical medicine)
[2019, 8(12):]

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Takayasu arteritis in a rural hospital in Indonesia.

Michael Lusida, Mohammad Zakky Kurniawan, Johanes Nugroho,

Takayasu arteritis (TA) is a rare chronic granulomatous inflammation of the aorta or its branches and is prevalent all around the world. It causes stenosis of large arteries and ischaemic damage to target organs. There is usually a delay in recognising TA because of the rarity and unfamiliarity with the ... Read more >>

BMJ Case Rep (BMJ case reports)
[2020, 13(1):]

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Rapidly Progressing Neurocognitive Disorder in a Male with FXTAS and Alzheimer's Disease.

Elber Yuksel Aydin, Andrea Schneider, Dragana Protic, Jun Yi Wang, Veronica Martínez-Cerdeño, Flora Tassone, Hiu-Tung Tang, Susan Perlman, Randi J Hagerman,

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder that usually begins in the early 60s and affects carriers of premutation expansion (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene. Additional disorders can co-occur with FXTAS including Alzheimer's disease (AD). Here we discuss a case report ... Read more >>

Clin Interv Aging (Clinical interventions in aging)
[2020, 15:285-292]

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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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Incidentally detected small fistula flows in pulmonary artery by colour Doppler: echocardiographic findings and follow-up results.

Sezen Ugan Atik, Irfan Levent Saltik,

Abnormal small fistulous flows in the pulmonary artery were detected on routine transthoracic echocardiography in asymptomatic patients by colour Doppler echocardiography. The most likely diagnosis is small coronary artery-pulmonary artery fistulas. We evaluated the clinical, echocardiographic, and follow-up findings of 101 patients. The mean age at first echocardiographic evaluation was ... Read more >>

Cardiol Young (Cardiology in the young)
[2019, 29(12):1435-1439]

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Genetic Characterization of Endometriosis Patients: Review of the Literature and a Prospective Cohort Study on a Mediterranean Population.

Stefano Angioni, Maurizio Nicola D'Alterio, Alessandra Coiana, Franco Anni, Stefano Gessa, Danilo Deiana,

The pathogenesis of endometriosis is unknown, but some evidence supports a genetic predisposition. The purpose of this study was to evaluate the recent literature on the genetic characterization of women affected by endometriosis and to evaluate the influence of polymorphisms of the wingless-type mammalian mouse tumour virus integration site family ... Read more >>

Int J Mol Sci (International journal of molecular sciences)
[2020, 21(5):]

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Fatty Infiltration of Mitral Valve: A Rare Case Report and Review of Literature.

Geetika Goyal, Syed H Abbas, Michael A Diamond, Rajiv Pulinthanathu,

Adipose tissue is a normal anatomical finding in the heart but fat infiltration in cardiac valves is extremely rare with very few cases reported in the literature. We report a case of fatty infiltration in a mitral valve replaced for mitral valve prolapse causing severe mitral regurgitation in a 65-year-old ... Read more >>

Cureus (Cureus)
[2019, 11(11):e6144]

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Progression of Aortic Regurgitation After Subarterial Ventricular Septal Defect Repair: Optimal Timing of the Operation.

Hanna Jung, Joon Yong Cho, Youngok Lee,

In patients with subarterial ventricular septal defect (VSD), the progression of aortic regurgitation (AR) still remains unclear. This review is to identify the incidence of AR progression after VSD repair and to determine the optimal operation timing for subarterial VSD repair with or without aortic valve prolapse or AR. From ... Read more >>

Pediatr Cardiol (Pediatric cardiology)
[2019, 40(8):1696-1702]

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Successful cardiopulmonary resuscitation following minimally invasive pectus excavatum repair: A case report.

Kyle J Glithero, John J Tackett, Kenneth DeMason, Cathy A Burnweit,

INTRODUCTION:Pectus excavatum is the most common congenital chest wall deformity. The minimally invasive repair of pectus excavatum (MIRPE) is the most commonly practiced method of surgical treatment and there is concern that the pectus bar will prevent effective CPR. There are no recorded cases of successful cardiopulmonary resuscitation with pectus ... Read more >>

Int J Surg Case Rep (International journal of surgery case reports)
[2019, 65:255-258]

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Anomalous Left Coronary Artery From The Pulmonary Artery (ALCAPA) as a Cause of Heart Failure.

Daniel Sadoma, Christopher Valente, Adam Sigal,

BACKGROUND Anomalous left coronary artery from the pulmonary artery (ALCAPA) is a rare anomaly. When present it can result in failure to thrive and congestive heart failure. CASE REPORT We present the case of a 6-month old female whose presentation was one of failure to thrive. Point of care ultrasound ... Read more >>

Am J Case Rep (The American journal of case reports)
[2019, 20:1797-1800]

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Prevalence, Type, and Molecular Spectrum of NF1 Mutations in Patients with Neurofibromatosis Type 1 and Congenital Heart Disease.

Valentina Pinna, Paola Daniele, Giulio Calcagni, Lucio Mariniello, Roberta Criscione, Chiara Giardina, Francesca Romana Lepri, Hossein Hozhabri, Angela Alberico, Stefania Cavone, Annunziata Tina Morella, Roberta Mandile, Francesca Annunziata, Niccolò Di Giosaffatte, Maria Cecilia D'Asdia, Paolo Versacci, Rossella Capolino, Pietro Strisciuglio, Sandra Giustini, Daniela Melis, Maria Cristina Digilio, Marco Tartaglia, Bruno Marino, Alessandro De Luca,

The aim of this study was to assess the prevalence and type of congenital heart disease (CHD) and the associated mutation spectrum in a large series of patients with neurofibromatosis type 1 (NF1), and correlate the mutation type with the presence and subgroups of cardiac defects. The study cohort included ... Read more >>

Genes (Basel) (Genes)
[2019, 10(9):]

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Juvenile Polyposis Syndrome in a Young Girl from Northern Tanzania.

Jay Lodhia, David Msuya, Abdallah Msemo, Huda Akrabi, Patrick Amsi, Deborah Mchaile, Kondo Chilonga,

Introduction. Juvenile polyposis syndrome is a rare autosomal dominant disorder in children characterized by multiple polyps in the gastrointestinal tract. A variety of clinical features manifest, including prolapse of a polyp or entire rectum, gastrointestinal bleeding, anaemia, and intussusception. This condition if left unmanaged promptly leads to fatal complications including ... Read more >>

Case Rep Surg (Case reports in surgery)
[2020, 2020:1536090]

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Fragile X syndrome and associated disorders: Clinical aspects and pathology.

Maria Jimena Salcedo-Arellano, Brett Dufour, Yingratana McLennan, Veronica Martinez-Cerdeno, Randi Hagerman,

This review aims to assemble many years of research and clinical experience in the fields of neurodevelopment and neuroscience to present an up-to-date understanding of the clinical presentation, molecular and brain pathology associated with Fragile X syndrome, a neurodevelopmental condition that develops with the full mutation of the FMR1 gene, ... Read more >>

Neurobiol. Dis. (Neurobiology of disease)
[2020, 136:104740]

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Severe aortic root dilatation in infantile Marfan syndrome.

Renita A Thomas, Chikamuche T Anyanwu, Maria Blazo, Saradha Subramanian,

Cardiovascular manifestations of Marfan syndrome are associated with increased mortality, especially in the pediatric population. Early recognition is critical to long-term management. We present two cases of genetically defined "classical" Marfan syndrome presenting with severe infantile aortic root dilatation among siblings and discuss options for therapy. ... Read more >>

Proc (Bayl Univ Med Cent) (Proceedings (Baylor University. Medical Center))
[2019, 32(4):561-563]

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A Case of Ewing Sarcoma Presenting With Cardiac Metastasis.

Ruba Murad, Rimaa Bakkar, Rehab Sukkar, Fadi Mahmoud, Alwaleed Al-Dairy,

Ewing sarcoma is the second most prevalent primary malignant bone tumor. Metastases from Ewing sarcoma to the heart are very rare. Herein, we present a case of undiagnosed Ewing sarcoma in a 12-year-old boy who presented with metastasis to the left atrium. The mass was prolapsing across the mitral valve. ... Read more >>

World J Pediatr Congenit Heart Surg (World journal for pediatric & congenital heart surgery)
[2019, 10(5):632-634]

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The cartilage matrisome in adolescent idiopathic scoliosis.

Carol A Wise, Diane Sepich, Aki Ushiki, Anas M Khanshour, Yared H Kidane, Nadja Makki, Christina A Gurnett, Ryan S Gray, Jonathan J Rios, Nadav Ahituv, Lila Solnica-Krezel,

The human spinal column is a dynamic, segmented, bony, and cartilaginous structure that protects the neurologic system and simultaneously provides balance and flexibility. Children with developmental disorders that affect the patterning or shape of the spine can be at risk of neurologic and other physiologic dysfunctions. The most common developmental ... Read more >>

Bone Res (Bone research)
[2020, 8:13]

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Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data.

Letizia Camerota, Marco Ritelli, Anita Wischmeijer, Silvia Majore, Valeria Cinquina, Paola Fortugno, Rosanna Monetta, Laura Gigante, Marfan Syndrome Study Group Tor Vergata University Hospital, Federica Carla Sangiuolo, Giuseppe Novelli, Marina Colombi, Francesco Brancati,

Loeys-Dietz syndrome (LDS) is a connective tissue disorder first described in 2005 featuring aortic/arterial aneurysms, dissections, and tortuosity associated with craniofacial, osteoarticular, musculoskeletal, and cutaneous manifestations. Heterozygous mutations in 6 genes (TGFBR1/2, TGFB2/3, SMAD2/3), encoding components of the TGF-β pathway, cause LDS. Such genetic heterogeneity mirrors broad phenotypic variability with ... Read more >>

Genes (Basel) (Genes)
[2019, 10(10):]

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The Early "Unnatural" History Following Surgical Repair of Ventricular Septal Defects.

Sathish M Chikkabyrappa, Justin T Tretter, Arpan R Doshi, Sujatha Buddhe, Puneet Bhatla, Achi Ludomirsky,

Introduction:Surgical outcomes for simple ventricular septal defects (VSD) have been excellent in the past three decades. For this project, the timing of resolution of left-sided dilation and mitral regurgitation (MR) following VSD repair was assessed. Methods:Echocardiographic data surrounding surgery of 42 consecutive children who underwent surgical patch repair of a ... Read more >>

Kans J Med (Kansas journal of medicine)
[2019, 12(4):121-124]

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Utilization of echocardiography in Ehlers-Danlos syndrome.

Kristina K Rauser-Foltz, Lois J Starr, Anji T Yetman,

OBJECTIVES:This study assessed the frequency and utility of echocardiographic examination in patients with all forms of Ehlers-Danlos syndrome and sought to identify clinical variables associated with an abnormal echocardiogram. DESIGN/SETTING:This was a retrospective study of all patients carrying a diagnosis of Ehlers-Danlos syndrome of any type who were evaluated by ... Read more >>

Congenit Heart Dis (Congenital heart disease)
[2019, 14(5):864-867]

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