In this case report we present a patient with dextrocardia, who undergone implantation of dual chamber implantable cardioverter-defibrillator (ICD). Here we aimed to underline several specific considerations which must be noted when one considers to implant an ICD in a patient with dextrocardia.
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Ann Thorac Surg Short Rep
March 2023
Department of Cardiovascular Surgery, Osaka University Graduate School of Medicine, Suita, Osaka, Japan.
Dextrocardia with situs inversus is a rare congenital anomaly characterized by a right-sided heart apex and inversely rotated abdominal viscera. It is often autosomal recessive and involves 1 child in every 10,000 births. We report a case of dextrocardia with situs inversus totalis in a patient who underwent mitral valve repair through an extended transseptal approach for clinically relevant mitral regurgitation secondary to Barlow disease.
View Article and Find Full Text PDFMol Genet Genomic Med
January 2025
The State Key Laboratory for Complex Severe and Rare Diseases, the State Key Sci-Tech Infrastructure for Translational Medicine, Peking Union Medical College Hospital, Beijing, China.
Background: Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterized by dysfunction of motile cilia. While approximately 50 genes have been identified, around 25% of PCD patients remain genetically unexplained; elucidating the pathogenicity of specific variants remains a challenge.
Methods: Whole exome sequencing (WES) and Sanger sequencing were conducted to identify potential pathogenic variants of PCD.
Medicina (Kaunas)
November 2024
Department of Nucleic Acid Biochemistry, Medical University of Lodz, 92-213 Lodz, Poland.
Primary ciliary dyskinesia (PCD) is a rare genetic disorder that affects the structure and function of cilia, primarily impacting the respiratory system. Kartagener syndrome, a subset of PCD, is characterized by situs inversus, bronchiectasis, and chronic sinusitis. Patients with PCD are prone to recurrent respiratory infections due to impaired ciliary function, which hinders effective mucus clearance and promotes pathogen colonization.
View Article and Find Full Text PDFFront Cardiovasc Med
November 2024
Department of Cardiology, West China Hospital, Sichuan University, Chengdu, Sichuan, China.
We present the case of an elderly woman with congenital dextrocardia who experienced severe palpitations. An electrocardiogram revealed paroxysmal atrial fibrillation, and her medical history unveiled cerebral infarction and renal failure. In the treatment of paroxysmal atrial fibrillation, anticoagulation is a key requirement.
View Article and Find Full Text PDFJ Intern Med
January 2025
Department of Pulmonary and Critical Care Medicine, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences, Peking Union Medical College, Beijing, China.
Background: Primary ciliary dyskinesia (PCD) is a rare, genetically heterogeneous disease. Due to difficulty accessing diagnostic services and a lack of awareness of the syndrome, clinicians often fail to recognize the classic phenotype, leading to missed diagnoses.
Methods: Relevant medical records were accessed through The BIG DATA QUERY AND ANALYSIS SYSTEM of Peking Union Medical College Hospital from September 1, 2012 to March 31, 2024.
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