A case with congenital absence of the left atrial appendage
Sign Up to like & getrecommendations! Published in 2025 at "Journal of Arrhythmia"
DOI: 10.1002/joa3.70120
Abstract: Congenital absence of the left atrial appendage (LAA) is an extremely rare anatomical variation with important implications for the management of atrial fibrillation (AF). Additionally, atrial natriuretic peptide (ANP) production may be compensated by the… read more here.
Keywords: absence left; left atrial; congenital absence; appendage ... See more keywords
A rare prenatal diagnosis: congenital absence of aortic valve.
Sign Up to like & getrecommendations! Published in 2022 at "Cardiology in the young"
DOI: 10.1017/s1047951122000919
Abstract: Congenital absence of the aortic valve is characterised by the absence of aortic valve and severe regurgitation. The rest of the reported cases were mostly diagnosed either on postnatal echocardiography or autopsy. Here, we present… read more here.
Keywords: congenital absence; absence aortic; aortic valve; rare prenatal ... See more keywords
A novel mutation in MYCN gene causing congenital absence of the flexor pollicis longus tendon as an unusual presentation of Feingold syndrome 1.
Sign Up to like & getrecommendations! Published in 2020 at "Clinical Dysmorphology"
DOI: 10.1097/mcd.0000000000000342
Abstract: Feingold syndrome 1 (FGLDS1) is an autosomal dominant malformation syndrome, characterized by skeletal anomalies, microcephaly, facial dysmorphism, gastrointestinal atresias and learning disabilities. Mutations in the MYCN gene are known to be the cause of this… read more here.
Keywords: absence flexor; congenital absence; mycn gene; feingold syndrome ... See more keywords
Congenital absence of the right coronary artery
Sign Up to like & getrecommendations! Published in 2018 at "Medicine"
DOI: 10.1097/md.0000000000010187
Abstract: Rationale: Congenital absence of the right coronary artery (RCA) is a rare congenital malformation of the cardiovascular system which may have fatal consequences. Patient concerns: A 63-year-old man with a 5-year history of chest pain… read more here.
Keywords: congenital absence; artery; coronary artery; absence right ... See more keywords
Congenital absence of the penis (aphallia)
Sign Up to like & getrecommendations! Published in 2019 at "Medicine"
DOI: 10.1097/md.0000000000015129
Abstract: Rationale: Absence of the penis, known as aphallia, is a very rare congenital anomaly. It is believed to be a result of either the absence of the genital tubercle or its failure to fully develop… read more here.
Keywords: medicine; absence; penis aphallia; penis ... See more keywords
Comorbidity of the congenital absence of the vas deferens
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DOI: 10.1111/and.12994
Abstract: Congenital absence of the vas deferens (CAVD) is a relatively rare anomaly that may contribute to male infertility. The aim of this study was to evaluate the clinical features of patients with CAVD and to… read more here.
Keywords: comorbidity congenital; congenital absence; absence vas; vas deferens ... See more keywords
Expanding the phenotypic and genetic spectrum of Chinese patients with congenital absence of vas deferens bearing CFTR and ADGRG2 alleles
Sign Up to like & getrecommendations! Published in 2019 at "Andrology"
DOI: 10.1111/andr.12592
Abstract: Congenital absence of vas deferens (CAVD) is a major cause of obstructive azoospermia. Mutations in CFTR and ADGRG2 are responsible for this disease. However, until now the genetic spectrum of the CFTR and ADGRG2 genes… read more here.
Keywords: congenital absence; vas deferens; genetic spectrum; absence vas ... See more keywords
Cystic biliary atresia with congenital absence of portal vein
Sign Up to like & getrecommendations! Published in 2021 at "BMJ Case Reports"
DOI: 10.1136/bcr-2020-239205
Abstract: A 126-day female child presented with jaundice since day 7 of life. She was icteric and had hepatosplenomegaly. Radiological investigations revealed three extrahepatic and multiple intrahepatic biliary cysts, absent gall bladder and portal vein. These… read more here.
Keywords: congenital absence; vein; cystic biliary; portal vein ... See more keywords
Abstract 4373175: Complete Left Atrial Appendage Membrane Mimicking Congenital Absence on TEE
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DOI: 10.1161/circ.152.suppl_3.4373175
Abstract: Background: Left atrial appendage (LAA) membranes and congenital absence of LAA are extremely rare anatomical variants seen on transesophageal echocardiography (TEE). There are very few cases reported of LAA membrane and congenital absence of LAA… read more here.
Keywords: congenital absence; tee; laa; absence ... See more keywords
Congenital absence of norepinephrine due to CYB561 mutations
Sign Up to like & getrecommendations! Published in 2020 at "Neurology"
DOI: 10.1212/wnl.0000000000008734
Abstract: Objective Cytochrome b561 (CYB561) generates ascorbic acid, a cofactor in the enzymatic conversion of dopamine to norepinephrine by dopamine β-hydroxylase. We propose that the clinical relevance of this pathway can be revealed by characterizing the… read more here.
Keywords: cyb561; norepinephrine due; cyb561 mutations; congenital absence ... See more keywords
Congenital absence of the right coronary artery: A case report
Sign Up to like & getrecommendations! Published in 2022 at "World Journal of Clinical Cases"
DOI: 10.12998/wjcc.v10.i34.12799
Abstract: BACKGROUND As a rare anomaly, congenital absence of the right coronary artery (RCA) occurs during the development of coronary artery. Patients with congenital absence of the RCA often show no clinical symptoms, and this disease… read more here.
Keywords: coronary artery; congenital absence; absence; absence rca ... See more keywords