The congenital long QT syndrome (LQTS) is an inherited cardiac disorder characterized by increased QT intervals and a tendency to experience ventricular tachycardia, which can cause fainting, heart failure, or sudden death. A 4-year-old female patient undergoing velopharyngeal correction surgery under general anesthesia suddenly developed Torsades de pointes. Although the patient spontaneously resolved to sinus rhythm without treatment, subsequent QT prolongation persisted. Here, we report a case of concealed LQTS with a literature review.
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http://dx.doi.org/10.17245/jdapm.2020.20.3.165 | DOI Listing |
Worldwide, congenital deafness and pigmentation disorders impact millions with their diverse manifestations, and among these genetic conditions, mutations in the Microphthalmia-associated transcription factor (MITF: OMIM#156845) gene are notable for their profound effects on melanocyte development and auditory functions. This study reports a novel porcupine model exhibiting spontaneous deafness and pigmentation abnormalities reminiscent of human Waardenburg Syndrome Type 2 (WS2: OMIM#193510). Through phenotypic characterization, including coat color, skin, eye morphology, and auditory brainstem response (ABR) assessments, we identified hypopigmentation and complete deafness in mutant porcupines.
View Article and Find Full Text PDFWe present a clinical observation of an 18-year-old female patient with congenital bronchiectasis combined with congenital cystic degeneration of the upper lobes of both lungs, Williams-Campbell syndrome, long-COVID, severe course. The patient was treated in infectious disease department (three times), with subsequent transfer to pulmonology department of Kursk Regional Multi-Purpose Clinical Hospital from 31.01.
View Article and Find Full Text PDFJ Pediatr Urol
December 2024
Department of Urology, Gaziosmanpasa Training and Research Hospital, Istanbul, Türkiye.
Introduction: Posterior urethral valve (PUV) is a congenital condition marked by obstructing persistent urogenital membrane, leading to urinary tract infections, bladder dysfunction, and kidney damage. It affects males only, mostly suspected antenatally and confirmed in early infancy. It requires early diagnosis and intervention to prevent long-term complications.
View Article and Find Full Text PDFJ Cardiovasc Dev Dis
December 2024
Laboratory of X-Ray Endovascular and Reconstructive Cardiovascular Surgery, Department of Cardiovascular Surgery, Federal State Budgetary Institution "Research Institute for Complex Issues of Cardiovascular Diseases", Blvd. Named After Academician L.S. Barbarasha, 6, 650002 Kemerovo, Russia.
The Purpose: Evaluation of the short-term and long-term results of a phased correction of the tetralogy of Fallot (ToF) with stenting of the right ventricular outflow tract (RVOT) in comparison with a one-stage total correction (TC) of the defect.
Materials And Methods: Two groups of patients with classical ToF were formed. Group 1 (n = 25; median age = 72 days) was initially represented by children with ToF with a more severe clinical status (median weight = 3.
J Cardiovasc Dev Dis
December 2024
Biosciences Institute, Newcastle University, Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.
The International Cardiovascular Anatomy, Development, and Regeneration meeting was held from 18-20 September 2024, in Prague, Czech Republic, supported by the European Society of Cardiology's Working Group on Development, Anatomy, and Pathology. Hosted at the Institute of Anatomy, First Faculty of Medicine, the event began with a hands-on workshop on normal and malformed human hearts, covering morphology, echocardiographic imaging, and rare congenital cases. The session allowed participants to examine and image both normal and malformed hearts.
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