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[Ortner Syndrome Complicated with Giant Myxoma:Report of a Case].
Kyobu Geka
November 2024
Division of Cardiovascular Surgery, Gunma Prefectural Cardiovascular Center, Maebashi, Japan.
A 68-year-old woman were admitted with chief complaints of persistent hoarseness, dysphagia and dyspnea on effort. She was found to have a left atrial myxoma with obstruction of mitral inflow on echo-cardiogram. The tumor was extensively attached to the atrial septum and left atrium.
View Article and Find Full Text PDFHeterozygous BTNL8 variants in individuals with multisystem inflammatory syndrome in children (MIS-C).
J Exp Med
December 2024
Section of Paediatric Infectious Disease, Department of Infectious Disease, Faculty of Medicine, Imperial College London, London, UK.
Multisystem inflammatory syndrome in children (MIS-C) is a rare condition following SARS-CoV-2 infection associated with intestinal manifestations. Genetic predisposition, including inborn errors of the OAS-RNAseL pathway, has been reported. We sequenced 154 MIS-C patients and utilized a novel statistical framework of gene burden analysis, "burdenMC," which identified an enrichment for rare predicted-deleterious variants in BTNL8 (OR = 4.
View Article and Find Full Text PDFOrtner's syndrome: Hoarseness of voice revealing severe secondary pulmonary hypertension.
Radiol Case Rep
December 2024
Department of Radiology, Mohammed VI University Hospital of Tangier, Tangier, Morocco.
Ortner's syndrome or cardiovocal syndrome is a rare condition referring to laryngeal recurrent nerve paralysis due to cardiovascular conditions. We report the case of a 66-year-old man, with a medical history of active smoking, who complained of hoarseness of voice secondary to vocal cord palsy. A neck and thoracic CT scan revealed severe enlargement of pulmonary main artery, which caused compression of the left recurrent laryngeal nerve in the aortopulmonary window The prolonged course of the left laryngeal nerve makes it susceptible to injury from cardiovascular structures in the mediastinum.
View Article and Find Full Text PDFA Novel De Novo Gain-of-Function Variant in Neurodevelopmental Disease With Congenital Tremor, Seizures, and Hypotonia.
Neurol Genet
October 2024
From the Department of Pediatric Neurology (F.D., P.B., M.S., A.M.K.); Center for Chronically Sick Children (F.D., P.B., M.S., A.M.K.), Charité-Universitätsmedizin Berlin; Department of Pediatrics (A.V.M.),DRK Kliniken Berlin Westend, Berlin; Department of Neuropediatrics (J.L., S.W.), VAMED Klinik Hohenstücken, Brandenburg an der Havel, Germany; Department of Pharmacology and Toxicology (F.T., J.S., N.J.O.), Institute of Pharmacy, Center for Molecular Biosciences Innsbruck, University of Innsbruck, Austria; Center of Functional Genomics (G.S., U.I.S.), Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Hessische Straße 4A, Berlin, Germany; Department of Human Genetics (M.M.M., M.F.B.), Amsterdam UMC, University of Amsterdam, Amsterdam, The Netherlands; Institute for Cell Biology and Neurobiology (A.M.K.); and Department of Nephrology and Medical Intensive Care (U.I.S.), Charité - Universitätsmedizin Berlin, Germany.
Article Synopsis
- A novel mutation (c.3506G>A, p.G1169D) in the Ca1.3 gene is linked to a syndrome that causes autism, developmental delays, and other neurological and hormonal disorders in children, presenting with varying severities.
- Two patients with this mutation exhibited different symptoms: one had severe issues including respiratory problems and hearing loss, while the other had a milder phenotype possibly due to mosaicism of the mutation.
- Functional studies showed that the mutation enhances channel activity, leading to abnormal calcium channel behavior, but treatments with calcium channel blockers (isradipine and nifedipine) did not produce positive effects for the severely affected patient.
Ortner's syndrome due to aneurysmal dilatation of the left pulmonary artery secondary to mixed pulmonary valve disease.
BMJ Case Rep
August 2024
Department of Radiology, Imperial College Healthcare NHS Trust, London, UK
Article Synopsis
- A young female patient experienced a 5-year history of worsening hoarseness and loss of voice, prompting a referral to an ENT clinic.
- A chest X-ray revealed significant enlargement of the left pulmonary artery, but no signs of pulmonary arterial hypertension were detected.
- The provisional diagnosis indicated that the left recurrent laryngeal nerve was being compressed by the left pulmonary artery and aortic arch, a condition known as Ortner's syndrome, which was later confirmed through various diagnostic tests.
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