333,386 results match your criteria Congenital Hypertrichosis Lanuginosa


Accuracy of Prenatal Diagnosis of Congenital Cardiac MalformationsAcurácia do diagnóstico pré-natal de cardiopatias congênitas.

Rev Bras Ginecol Obstet 2018 Dec 14. Epub 2018 Dec 14.

Department of Postgraduate Program and Obstetrics and Gynecology, Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS, Brazil.

Objective:  To evaluate the accuracy of the diagnosis of fetal heart diseases obtained through ultrasound examinations performed during the prenatal period compared with the postnatal evaluation.

Methods:  A retrospective cohort study with 96 pregnant women who were attended at the Echocardiography Service and whose deliveries occurred at the Complexo Hospitalar Santa Casa de Porto Alegre, in the state of Rio Grande do Sul, Brazil. Risk factor assessment plus sensitivity and specificity analysis were used, comparing the accuracy of the screening for congenital heart disease by means of obstetrical ultrasound and morphological evaluation and fetal echocardiography, considering  < 0. Read More

View Article
December 2018

Vertico-horizontal atlantoaxial index (VHAI): A new craniovertebral radiographic index.

Clin Neurol Neurosurg 2018 Dec 3;176:83-88. Epub 2018 Dec 3.

Department of Neurosurgery, The First Affiliated Hospital of Chongqing Medical University, Chongqing, China. Electronic address:

Objective: The purpose of this study was to develop a new index that can reliably quantify the reduction of basilar invagination with atlantoaxial dislocation.

Patients And Methods: Between May 2012 and September 2017, 40 patients with congenital basilar invagination and atlantoaxial dislocation as well as 100 sex-and age-matched control subjects were recruited for this study. All patients underwent direct posterior reduction and fixation. Read More

View Article
December 2018

Hypogonadotropic hypogonadism and pituitary hypoplasia as recurrent features in Ulnar-Mammary syndrome.

Endocr Connect 2018 Dec;7(12):1432-1441

IRCCS Istituto Auxologico Italiano, Service of Medical Genetics, Milan, Italy.

Ulnar-mammary syndrome (UMS) is characterized by ulnar defects, and nipple or apocrine gland hypoplasia, caused by TBX3 haploinsufficiency. Signs of hypogonadism were repeatedly reported, but the mechanisms remain elusive. We aim to assess the origin of hypogonadism in two families with UMS. Read More

View Article
December 2018

Molecular diagnostics of disorders of sexual development: an Indian survey and systems biology perspective.

Syst Biol Reprod Med 2018 Dec 14:1-16. Epub 2018 Dec 14.

b Division of Pharmacology and Toxicology , CSIR- Indian Institute of Chemical Technology , Hyderabad , India.

We aimed to survey the monogenic causes of disorders of sex development (DSD) and thereby its prevalence in India. This study revealed mutations resulting in androgen insensitivity syndrome, 5α-reductase type 2 deficiency, and gonadal dysgenesis were commonly reported. Intriguingly, AR deficits were the most prevalent (32 mutations) and of 11/26 missense mutations were in exons 4-8 (encoding ligand binding domain). Read More

View Article
December 2018

[Congenital pyriform fistula with acute suppurative thyroiditis as the initial presentation].

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2018 Oct;32(19):1469-1471

Department of Otorhinolaryngology, Peking Union Medical College Hospital, Peking UnionMedical College, Chinese Academy of Medical Sciences, Beijing, 100730, China.

To summarize the clinical characteristics of congenital pyriform fistula with acute suppurative thyroiditis as the initial presentation. A total of 71 patients with congenital pyriform sinus fistula were treated, of which 33 cases had acute suppurative thyroiditis as the first symptom. For the patients with congenital pyriform sinus fistula who have acute suppurative thyroiditis as the first symptom, infection should be controlled first. Read More

View Article
October 2018

[The progress of clinical research on the causes and treatments of pediatric laryngotracheal stenosis].

Authors:
J H Lin Z F Xia

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2018 Jul;32(14):1114-1119

Pediatric laryngotracheal stenosis is a refractory disease in the present otorhinolaryngological head and neck surgery, including congenital stenosis caused by laryngotracheal deformities and acquired stenosis. The incidence of congenital laryngotracheal malformation has a rising trend.But acquired stenosis is still more common,which is mostly caused by iatrogenic injury (e. Read More

View Article

[Clinical treatment of congenital middle ear cholesteatoma in children].

Lin Chung Er Bi Yan Hou Tou Jing Wai Ke Za Zhi 2018 Jul;32(14):1097-1101

Children's National Medical Center, Department of Otolaryngology, Head and Neck Surgery, Beijing Children's Hospital, Capital Medical University, Beijing Key Laboratory for Pediatric Diseases of Otolaryngology, Head and Neck Surgery, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, Beijing,100045, China.

To summarize the clinical characteristics and clinical treatment of congenital cholesteatoma (CC) of the middle ear in children, provide early diagnosis methods and explore standardized diagnosis and treatment plan.A retrospective chart review of 94 patients with a diagnosis of middle ear cholesteatoma, in Beijing Children's Hospital, between 2009 and 2015 was carried on. 14 patients with CC were identified using the criteria proposed by Levenson, and were divided into two groups according to the course of disease. Read More

View Article

Identification of a Novel Gene Mutation in a Chinese Pedigree with X-linked Thrombocytopenia.

Clin Lab 2018 Oct;64(11)

Background: X-linked thrombocytopenia (XLT) is a milder form of Wiskott-Aldrich syndrome (WAS), characterized predominantly by thrombocytopenia with small-sized platelets. Mutations in the WAS gene are responsible for the disease. We herein detected a new mutation in the WAS gene responsible for XLT in a 3-generation Chinese pedigree. Read More

View Article
October 2018

A case of YY1-associated syndromic learning disability or Gabriele-de Vries syndrome with myasthenia gravis.

Am J Med Genet A 2018 Dec 14. Epub 2018 Dec 14.

Department of Neurology, Mayo Clinic, Mayo Clinic, Scottsdale, Arizona.

Exome sequencing is being used increasingly to evaluate patients with intellectual disability. YY1 is a ubiquitously distributed transcription factor belonging to the GLIKruppel class of zinc finger proteins recently recognized as the causative gene in 23 patients for the Gabriele-de Vries syndrome. We report a new case with similar features and a novel variant in YY1, in a region of the gene, which has not previously been reported. Read More

View Article
December 2018

GPR126: A novel candidate gene implicated in autosomal recessive intellectual disability.

Am J Med Genet A 2018 Dec 14. Epub 2018 Dec 14.

Genetics Research Center, University of Social Welfare and Rehabilitation Sciences, Tehran, Iran.

Intellectual disability (ID), a genetically and clinically heterogeneous disorder, affects 1%-3% of the general population and is a major health problem, especially in developing countries and in populations with a high frequency of consanguineous marriage. Using whole exome sequencing, a homozygous missense variation (c.3264G>C, p. Read More

View Article
December 2018

The progression of Wiedemann-Steiner syndrome in adulthood and two novel variants in the KMT2A gene.

Am J Med Genet A 2018 Dec 14. Epub 2018 Dec 14.

Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.

Wiedemann-Steiner syndrome is a genetic condition associated with dysmorphic facies, hypertrichosis, short stature, developmental delay, and intellectual disability. Congenital malformations of the cerebral, cardiac, renal, and optic structures have also been reported. Because the majority of reported individuals with this condition have been under age 20, the long-term prognosis is not well defined. Read More

View Article
December 2018

Spontaneous resolution of large pericardial effusion associated with right ventricular outpouching in four fetal cases.

Ultrasound Obstet Gynecol 2018 Dec 14. Epub 2018 Dec 14.

Harris Birthright Research Centre for Fetal Medicine, King's College Hospital, Windsor Walk London, SE5 8BB, UK.

We report the diagnosis and management of four cases of right ventricular outpouching (RVO) in association with a large pericardial effusion. These fetuses initially presented with a large pericardial effusion (figure 1.a) before 16 weeks gestation. Read More

View Article
December 2018

Neuronal cell adhesion molecule regulating neural systems underlying addiction.

Neuropsychopharmacol Rep 2018 Dec 13. Epub 2018 Dec 13.

Department of Biology, William Paterson University, Wayne, New Jersey.

Aims: The human NRCAM gene is associated with polysubstance use. Nrcam knockout mice do not acquire a preference for addictive substances. We aimed to elucidate the role of Nrcam in specific neural circuits underlying congenital preference for substances and the acquisition of addiction. Read More

View Article
December 2018

Optic Disc Coloboma in children - prevalence, clinical characteristics and associated morbidity.

Acta Ophthalmol 2018 Dec 13. Epub 2018 Dec 13.

Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden.

Purpose: The aim of the study was to report prevalence, ocular outcome, neurological characteristics, cognitive and behavioural problems in children with optic disc coloboma (ODC).

Methods: This was a population-based, cross-sectional study of 31 children between 2 and 18 years of age diagnosed with ODC. The children were part of a larger cohort of 184 children with congenital optic disc malformations. Read More

View Article
December 2018
1 Read

New treatment method for mucopolysaccharidosis type VI by liver transplantation.

Pediatr Int 2018 Dec 13. Epub 2018 Dec 13.

Department of Clinical Diagnosis, National Center for Child Health and Development, Tokyo.

Background: Mucopolysaccharidosis (MPS) VI is a rare, autosomal recessive congenital metabolic disorder caused by deficient activity of the lysosomal metabolic enzyme, N-acetylgalactosamine 4-sulfatase. Enzyme replacement therapy (ERT) is current therapeutic treatment for MPS VI, while involves limited compliance to the therapy and high costs. This study aimed to develop a new method of treatment by conducting an orthotopic liver transplantation using an animal model of human MPS VI, and to evaluate and examine its effectiveness for treating MPS VI. Read More

View Article
December 2018

Leaflet morphology classification of the Melody Transcatheter Pulmonary Valve.

Congenit Heart Dis 2018 Dec 13. Epub 2018 Dec 13.

The Heart Center, Nationwide Children's Hospital, Columbus, Ohio.

Objective: We sought to describe the leaflet morphology variation in the Melody Transcatheter Pulmonary Valve (TPV) and evaluate associated outcomes. The Melody TPV is constructed from harvested bovine jugular venous valves which have been rigorously tested. Natural anatomic leaflet variations are seen in the Melody TPV but have not been evaluated. Read More

View Article
December 2018

Associated anomalies in cases with anorectal anomalies.

Am J Med Genet A 2018 Dec 12:e40530. Epub 2018 Dec 12.

Laboratoire de Génétique Médicale, Faculté de Médecine, Université de Strasbourg, Strasbourg cedex, France.

Anorectal anomalies (ARA) are common congenital anomalies. The etiology of ARA is unclear and its pathogenesis is controversial. Cases with ARA often have other non-ARA-associated congenital anomalies. Read More

View Article
December 2018

Impaired intermediate formation in mouse embryos expressing reduced levels of Tbx6.

Genesis 2018 Dec 13:e23270. Epub 2018 Dec 13.

Department of Biological Sciences, University of Pittsburgh, Pittsburgh, PA 15260, USA.

Intermediate mesoderm (IM) is the strip of tissue lying between the paraxial mesoderm (PAM) and the lateral plate mesoderm that gives rise to the kidneys and gonads. Chick fate mapping studies suggest that IM is specified shortly after cells leave the primitive streak and that these cells do not require external signals to express IM-specific genes (James and Schultheiss, 2003). Surgical manipulations of the chick embryo, however, revealed that PAM-specific signals are required for IM differentiation into pronephros - the first kidney (Mauch et al. Read More

View Article
December 2018

Cellular organization and boundary formation in craniofacial development.

Genesis 2018 Dec 13:e23271. Epub 2018 Dec 13.

Department of Cell and Tissue Biology, Program in Craniofacial Biology, and Institute of Human Genetics, University of California at San Francisco, San Francisco, CA, USA.

Craniofacial morphogenesis is a highly dynamic process that requires changes in the behaviors and physical properties of cells in order to achieve the proper organization of different craniofacial structures. Boundary formation is a critical process in cellular organization, patterning, and ultimately tissue separation. There are several recurring cellular mechanisms through which boundary formation and cellular organization occur including, transcriptional patterning, cell segregation, cell adhesion and migratory guidance. Read More

View Article
December 2018

Myxoedema coma in a 2-year-old girl with untreated congenital hypothyroidism: Case report and literature review.

J Paediatr Child Health 2018 Dec 12. Epub 2018 Dec 12.

Department of Pediatrics, Faculty of Medicine Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.

View Article
December 2018

Improvement of hereditary palmoplantar keratoderma with oral trametinib.

Pediatr Dermatol 2018 Dec 12. Epub 2018 Dec 12.

Dermatology Program, Boston Children's Hospital, Boston, Massachusetts.

We report a child with a past medical history notable for congenital deafness, palmoplantar keratoderma (PPK), and hypothalamic glioma who initiated a MEK inhibitor trametinib for cancer-directed therapy at 11 years of age and was incidentally noted to have marked improvement in his PPK. Trametinib withdrawal led to worsening in the patient's PPK. We speculate that the patient's PPK improved because of trametinib, given the temporal relationship between trametinib therapy and PPK severity, observed both after introduction and withdrawal of trametinib therapy. Read More

View Article
December 2018

Combinatorial Utilization of Murine Embryonic Stem Cells and In Vivo Models to Study Human Congenital Heart Disease.

Curr Protoc Stem Cell Biol 2018 Dec 12:e75. Epub 2018 Dec 12.

Department of Cellular and Molecular Medicine, University of Ottawa, Ottawa, Ontario, Canada.

We have established an in vitro model of the human congenital heart defect (CHD)-associated mutation NKX2.5 R141C. We describe the use of the hanging drop method to differentiate Nkx2. Read More

View Article
December 2018

Identification of a de novo splicing variant in the Coffin-Siris gene, SMARCE1, in a patient with Angelman-like syndrome.

Mol Genet Genomic Med 2018 Dec 11. Epub 2018 Dec 11.

Genetics Laboratory, UDIAT-Centre Diagnòstic, Parc Taulí Hospital Universitari, Institut d'Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, Sabadell, Spain.

Background: Patients affected by Angelman syndrome (AS) present severe intellectual disability, lack of speech, ataxia, seizures, abnormal electroencephalography (EEG), and a characteristic behavioral phenotype. Around 10% of patients with a clinical diagnosis of AS (AS-like) do not have an identifiable molecular defect. Some of these patients harbor alternative genetic defects that present overlapping features with AS. Read More

View Article
December 2018

Detection of a multi-lineage mosaic NRAS mutation c.181C>A (p.Gln61Lys) in an individual with a complex congenital nevus syndrome.

Pigment Cell Melanoma Res 2018 Dec 7. Epub 2018 Dec 7.

Institute of Human Genetics, University Hospital Otto-von-Guericke-University, Magdeburg, German.

Mosaic RASopathies constitute a clinically and genetically heterogeneous group of non-inherited congenital (neuro)cutaneous disorders caused by postzygotic mutations in genes encoding components of the RAS-MAPK signaling pathway (Luo & Tsao, 2014). There are striking genotype-phenotype correlations within this group but also clinical features overlapping between distinct disorders. Congenital melanocytic nevi (CMN) are the most common lesions falling into the category of mosaic RASopathies. Read More

View Article
December 2018

SOX2 regulates P63 and stem/progenitor cell state in the corneal epithelium.

Stem Cells 2018 Dec 10. Epub 2018 Dec 10.

Department of Genetics and Developmental Biology, The Rappaport Faculty of Medicine and Research Institute, Technion - Israel Institute of Technology, Haifa, Israel.

Mutations in key transcription factors SOX2 and P63 were linked with developmental defects and post-natal abnormalities such as corneal opacification, neovascularization and blindness. The latter phenotypes suggest that SOX2 and P63 may be involved in corneal epithelial regeneration. While P63 has been shown to be a key regulator of limbal stem cells (LSCs), the expression pattern and function of SOX2 in the adult cornea remained unclear. Read More

View Article
December 2018
1 Read

High-energy nutrition in paediatric cardiac critical care patients: a randomized controlled trial.

Nurs Crit Care 2018 Dec 9. Epub 2018 Dec 9.

Nursing Department, Children's Hospital of Fudan University, Shanghai, People's Republic of China.

Background: Previous studies have shown that feeding a high-energy formula (HF) to infants after cardiac surgery increases energy intake, with fewer side effects on cardiopulmonary function. However, impacts on weight gain and gastrointestinal function remain unclear.

Aims And Objectives: To determine the impact of HF compared with standard formula on weight gain and gastrointestinal tolerance in postoperative infants with congenital heart disease. Read More

View Article
December 2018

Chikungunya Virus: History, Geographic Distribution, Clinical Picture, and Treatment.

P R Health Sci J 2018 Dec;37(4):187-194

Third-year medical student, University of Puerto Rico Medical Sciences Campus, San Juan, PR.

Chikungunya fever (CHIKF) is a re-emerging mosquito-borne disease caused by a virus endemic to Africa and Asia. Due to the ease with which its vectors propagate, the virus has spread to India and Europe, and more recently it arrived to the Caribbean, eventually extending into North, Central, and South America. According to the World Health Organization (WHO), the most common clinical manifestations are abrupt fever, polyarthralgia, headache, maculopapular rash, myalgia, and nausea/vomiting. Read More

View Article
December 2018

[Diagnostics of congenital cytomegalovirus in Denmark].

Ugeskr Laeger 2018 Dec;180(50)

Congenital cytomegalovirus (cCMV) is the most common infectious cause of congenital malformations in Denmark. The disease is not notifiable, and there are no national data. A regional Danish prospective study from the 1970s found a cCMV incidence of 0. Read More

View Article
December 2018

Has doxycycline, in combination with anti-malarial drugs, a role to play in intermittent preventive treatment of Plasmodium falciparum malaria infection in pregnant women in Africa?

Malar J 2018 Dec 14;17(1):469. Epub 2018 Dec 14.

Unité Parasitologie et Entomologie, Département Microbiologie et Maladies Infectieuses, Institut de Recherche Biomédicale des Armées, 19-21 Boulevard Jean Moulin, 13005, Marseille, France.

According to the World Health Organization (WHO), Plasmodium falciparum malaria during pregnancy is responsible for deleterious consequences for the mother and her child. The administration of intermittent preventive treatment (IPTp) with sulfadoxine-pyrimethamine (SP) at each antenatal care visit as early as 13 weeks of gestation until the time of delivery is a strategy that is currently recommended by WHO for the prevention of malaria in pregnancy. However, the emergence and the spread of the resistance to SP in Africa raise the question of the short-term effectiveness of the strategy. Read More

View Article
December 2018

Prevalence and risk factors of gestational diabetes mellitus in Asia: a systematic review and meta-analysis.

BMC Pregnancy Childbirth 2018 Dec 14;18(1):494. Epub 2018 Dec 14.

Department of Pharmacy Practice, School of Pharmacy, International Medical University, 57000, Kuala Lumpur, Malaysia.

Background: Gestational diabetes mellitus (GDM) is a of the major public health issues in Asia. The present study aimed to determine the prevalence of, and risk factors for GDM in Asia via a systematic review and meta-analysis.

Methods: We systematically searched PubMed, Ovid, Scopus and ScienceDirect for observational studies in Asia from inception to August 2017. Read More

View Article
December 2018

Frequency and features of nocturnal enuresis in Pakistani children aged 5 to 16 years based on ICCS criteria: a multi-center cross-sectional study from Karachi, Pakistan.

BMC Fam Pract 2018 Dec 14;19(1):198. Epub 2018 Dec 14.

South Tyneside District Hospital, South Shields, UK.

Background: Nocturnal enuresis (NE) is a common symptom in children worldwide. International Children's Continence Society (ICCS) defines enuresis as either mono-symptomatic, NE with lower urinary tract symptoms and NE with co-morbid conditions. The objectives of this study were to determine the frequencies and types of NE and associated symptoms and conditions in children aged 5 to 16 years based on ICCS criteria. Read More

View Article
December 2018

Added value of cardiac magnetic resonance in a case of multiple congenital abnormalities.

J Cardiol Cases 2014 Apr 16;9(4):143-144. Epub 2014 Jan 16.

Cardiology Department, Centro Hospitalar de S. João, Porto, Portugal.

Sub-infundibular stenosis is a rare form of congenital heart disease, difficult to precisely diagnose, especially in adult patients. We report a case of an adult patient, referred to our hospital with long-standing dyspnea on exertion. She was finally diagnosed with sub-infundibular stenosis. Read More

View Article

Surgical repair of severe mitral valve regurgitation complicated by incomplete cor triatriatum.

J Cardiol Cases 2014 Jan 13;9(1):29-31. Epub 2013 Dec 13.

Department of Cardiology, KKR Sapporo Medical Center, Hiragishi 1-6, Toyohira-ku, Sapporo, Hokkaido 062-0931, Japan.

A 69-year-old woman with exertional dyspnea was referred emergently to our hospital for further evaluation. Transthoracic echocardiography showed severe mitral valve regurgitation and moderate tricuspid regurgitation, which were thought to be the main cause of her heart failure. An electrocardiogram showed paroxysmal atrial fibrillation. Read More

View Article
January 2014
1 Read

Anomalous origin of the left coronary artery from pulmonary artery a late presentation-Case report and review of literature.

J Cardiol Cases 2014 Jan 13;9(1):22-25. Epub 2013 Dec 13.

Capital Cardiology Associates, Albany Medical Center, Albany, NY 12208, USA.

An otherwise healthy 26-year-old female presented with sudden cardiac arrest. She was resuscitated with unsynchronized cardioversion for ventricular fibrillation. A left heart cardiac catheterization showed anomalous origin of the left coronary artery from the pulmonary artery (ALCAPA). Read More

View Article
January 2014

Urgent stenting via internal jugular vein for stabilization in critical neonates with total anomalous pulmonary venous connection and severe pulmonary venous obstruction.

J Cardiol Cases 2013 Jul 6;8(1):e51-e53. Epub 2013 May 6.

Department of Pediatric Cardiology, Nagano Children's Hospital, 3100 Toyoshina, Azumino, Nagano, 399-8288, Japan.

Reducing obstruction in the vertical vein is significant for stabilizing the condition in neonates with total anomalous pulmonary venous connection (TAPVC). Stent implantation into the vertical vein is an alternative treatment for rescue in critical patients with TAPVC and severe pulmonary congestion. We performed a stent implantation into the supra-cardiac vertical vein for rescue and stabilization of a critical newborn with TAPVC. Read More

View Article

Sick sinus syndrome as a late complication after ventricular septal defect surgery.

J Cardiol Cases 2013 Jul 30;8(1):e24-e26. Epub 2013 Apr 30.

Department of Cardiology, Matsushita Memorial Hospital, 5-55 Sotojima, Moriguchi, Osaka 557-0045, Japan.

Ventricular septal defect is a common congenital heart disease for which patch closure technique using cardiopulmonary bypass has been applied for a few decades, resulting in a low incidence of perioperative complications. We report a 26-year-old woman with bradycardia of 25-30 beats per minute, which was considered to be a late-onset complication of surgical closure of an isolated ventricular septal defect performed 21 years earlier. She has been stable for more than 9 months without an implanted pacemaker, although her heart rate was always around 40 beats per minute in scheduled follow-up visits. Read More

View Article

Inoue balloon atrial septostomy in severe persistent pulmonary hypertension following surgical ASD closure.

J Cardiol Cases 2012 Jul 3;6(1):e1-e3. Epub 2012 Apr 3.

Department of Cardiology, Sanjay Gandhi PGIMS, Lucknow 226014, India.

Balloon atrial septostomy (BAS), which involves artificially creating a communication across the interatrial septum following trans-septal puncture and repetitive balloon dilatation, is known to be associated with therapeutic benefit in patients with severe pulmonary artery hypertension (PAH). Adult patients with large shunts and consequent severe PAH are not uncommon in the developing world, since they often seek medical attention late in the course of the disease. Often PAH in such cases is reversible with amelioration of symptoms after closure of the defect. Read More

View Article
July 2012
1 Read

Successful adaptive servo-ventilation for patients with acute cardiogenic pulmonary edema due to severe aortic stenosis.

J Cardiol Cases 2010 Oct 12;2(2):e115-e118. Epub 2010 Jun 12.

Department of Cardiovascular Medicine, Hokkaido University Graduate School of Medicine, Kita 15, Nishi 7, Kita-ku, Sapporo 060-8638, Japan.

A 60-year-old woman with severe aortic stenosis (AS) and congenital bicuspid aortic valve was admitted to our hospital due to cardiogenic pulmonary edema. Noninvasive adaptive servo-ventilation (ASV) improved her symptoms and respiratory status. It was associated with favorable hemodynamic effects including an increase in cardiac output and a decrease in pulmonary vascular resistance without alternating systemic blood pressure. Read More

View Article
October 2010

Left circumflex coronary arteriovenous fistula presenting as acute coronary syndrome.

J Cardiol Cases 2010 Oct 6;2(2):e92-e95. Epub 2010 May 6.

Department of Cardiology, Sri Jayadeva Institute of Cardiovascular Sciences & Research, Bangalore, India.

Coronary arteriovenous fistula (CAVF) is a rare congenital anomaly that is seen in 0.1-0.2% of coronary angiograms. Read More

View Article
October 2010

A familial cluster of idiopathic dilatation of the right atrium-A two-case report.

J Cardiol Cases 2010 Aug 21;2(1):e52-e54. Epub 2010 Mar 21.

Department of Cardiology, Clinical Hospital Dubrava, Zagreb, Croatia.

We report two cases of idiopathic atrial dilatation in two adult siblings, a brother and a sister. The first patient was a 36-year-old man who was referred to our institution for evaluation of atrial fibrillation and syncopes. Transthoracic echocardiography revealed an enlarged right atrium accompanied by a severe tricuspid regurgitation associated with annular dilatation. Read More

View Article

An unusual type of accessory pathway in tricuspid atresia.

J Cardiol Cases 2016 Dec 20;14(6):181-184. Epub 2016 Sep 20.

Department of Cardiology, Amrita Institute of Medical Sciences, Ponekkara, Kochi, Kerala, India.

The occurrence of pre-excitation in tricuspid atresia (TA) is slightly more common than that in normal children. The accessory pathway (AP), when it occurs in the setting of congenital atrioventricular valvar disease, is usually ipsilateral to the side of the abnormal valve. This report describes a patient with TA who had pre-excitation due to a left-sided AP that masked and modified the typical electrocardiographic features. Read More

View Article
December 2016

Efficacy of multidetector computed tomography for diagnosis of unroofed coronary sinus.

J Cardiol Cases 2016 Aug 19;14(2):43-45. Epub 2016 Apr 19.

Department of Cardiology, Niigata City General Hospital, Niigata, Japan.

The patient was a 62-year-old woman with a chest X-ray abnormality. Transthoracic echocardiography (TTE) showed a dilated right ventricle and right atrium and an enlarged coronary sinus (CS), but definite diagnosis was not possible. Using contrast-enhanced 64-slice multidetector computed tomography (MDCT), curved planar reconstruction along the CS showed a direct connection of the left atrium and CS, in addition to the CS to right atrium connection. Read More

View Article

Two adult cases of Bland-White-Garland syndrome with lethal arrhythmia due to coronary steal phenomenon during physical or mental stress.

J Cardiol Cases 2016 Jul 31;14(1):1-3. Epub 2016 Mar 31.

Division of Cardiology, Second Department of Internal Medicine, Kyorin University School of Medicine, Tokyo, Japan.

We experienced two adult cases of anomalous origin of the left coronary artery from the pulmonary artery, so-called Bland-White-Garland (BWG) syndrome, that presented with ventricular tachycardia (VT) and ventricular fibrillation during exertion in daily life. They presented to our hospital with syncope due to VT, and recovered following application of an automated external defibrillator with cardiopulmonary resuscitation. We diagnosed BWG syndrome by multi-detector computed tomography angiography and coronary angiography. Read More

View Article

Surgical repair of isolated anterior mitral leaflet cleft via right minithoracotomy.

J Cardiol Cases 2016 Jun 5;13(6):196-198. Epub 2016 Apr 5.

Department of Thoracic and Cardiovascular Surgery, Dokkyo Medical University Koshigaya Hospital, Koshigaya, Saitama, Japan.

Isolated anterior mitral leaflet cleft (AMLC) is rare. Several surgical procedures have been described; however, there are few reports which described mitral repair using minimally invasive cardiac surgery for AMLC. We describe successful repair for isolated AMLC via right minithoracotomy. Read More

View Article

Silent patent ductus arteriosus incidentally found before balloon mitral valvotomy for severe rheumatic mitral stenosis.

J Cardiol Cases 2016 Jun 2;13(6):165-168. Epub 2016 Mar 2.

Department of Cardiology, Sanjay Gandhi PGIMS, Lucknow, India.

Rheumatic heart disease (RHD) and congenital heart disease (CHD) rarely co-exist in the same patient. However, such associations are not unknown in areas where RHD is endemic. We report a rare combination of severe rheumatic mitral stenosis, severe pulmonary artery hypertension (PAH), and an incidental clinically silent patent ductus arteriosus (PDA). Read More

View Article

Meningitis and brain abscess: First but fatal presentation in a child with tetralogy of fallot.

J Cardiol Cases 2016 Mar 30;13(3):72-74. Epub 2015 Dec 30.

Department of Paediatrics, University College Hospital, Ibadan, Nigeria.

Brain abscess is a known complication of cyanotic congenital heart diseases. We report the case of a four-year-old girl whose first presentation in the hospital was because of symptoms referable to the neurological system. These symptoms are similar to those seen in cerebral malaria as well as other infections of the central nervous system, e. Read More

View Article

Transcatheter closure of ruptured sinus of Valsalva aneurysm in a pregnant woman.

J Cardiol Cases 2015 Dec 20;12(6):183-187. Epub 2015 Aug 20.

Department of Pediatric Cardiology, Apollo Health City, Jubilee Hills, Hyderabad, India.

Sinus of Valsalva aneurysm (SVA) is a rare cardiac anomaly that is usually congenital, but may be acquired. They are usually asymptomatic unless they compress adjacent structures, develop thrombosis, or rupture. A ruptured SVA (RSVA) can lead to rapid hemodynamic deterioration and often needs to be addressed emergently. Read More

View Article
December 2015

A case report of aorto-pulmonary window in an infant born to a diabetic mother.

J Cardiol Cases 2015 Dec 14;12(6):173-175. Epub 2015 Aug 14.

NICU, Department of Clinical Sciences and Community Health, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy.

Several studies have described the association between pre-gestational maternal diabetes and cardiac disease in the newborn. Infants of diabetic mothers have an increased incidence of congenital heart disease, reported between 3% and 6% compared to 0.8% of the general population. Read More

View Article
December 2015

Tetralogy of Fallot associated with supramitral ring: "Paying for a near miss".

J Cardiol Cases 2015 Nov 22;12(5):159-161. Epub 2015 Jul 22.

Nizam's Institute of Medical Sciences, Hyderabad, India.

A 13-year-old girl developed the features of congestive heart failure on day three of intracardiac repair of tetralogy of Fallot. A routine transthoracic echocardiography identified the missed supramitral ring (SMR), closely placed just above the mitral valve, the very reason for severe mitral stenosis and its implication in the present clinical deterioration. A rare association of SMR with tetralogy of Fallot may be missed narrowly because closely placed SMR can sometimes mask its hemodynamic effect when present with significant right ventricular outflow tract obstruction as in this case. Read More

View Article
November 2015

Pleuropericarditis complicated by a pericardial cyst.

J Cardiol Cases 2015 Nov 27;12(5):156-158. Epub 2015 Jul 27.

Department of Medicine, Rutgers University, New Jersey Medical School, Newark, NJ, USA.

We report the case of a 36-year-old woman with a recent upper respiratory illness who presented with chest pressure, lasting for five days, which improved with leaning forward. Physical examination and laboratory studies were unremarkable. Chest computed tomography scan revealed a 6. Read More

View Article
November 2015