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Fetal echocardiography
Published in Hung N. Winn, Frank A. Chervenak, Roberto Romero, Clinical Maternal-Fetal Medicine Online, 2021
Caroline K. Lee, Erik C. Michelfelder, Gautam K. Singh
Moving the transducer cephalad from the abdominal trans-verse view to a transverse view of the fetal chest should demonstrate the heart in the left hemithorax with the apex pointing to the left (levocardia). Also with this sweep, entrance of the IVC into the right atrium (RA) is demonstrated. Dextroposition of the heart is present when the fetal heart is found in the right hemithorax, such as when the heart is externally shifted to the right by a left-sided diaphragmatic hernia or cystic adenomatous malformation, or when hypoplasia of the right lung is present; however, the cardiac apex still points to the left. The term “dextrocardia” denotes the apex of the heart is pointed to the right. Dextrocardia in the presence of normal situs solitus is associated with CHD in 95% of cases (13). By contrast, in situs inversus totalis, where both stomach and heart are on the right side, heart defects are rare.
Unusual Inherited Pulmonary Diseases Which Provide Clues to Pulmonary Physiology and Function
Published in Stephen D. Litwin, Genetic Determinants of Pulmonary Disease, 2020
Thomas Κ. C. King, Robert A. Norum
The results of family studies are consistent with the interpretation that homozygosity for the gene for Kartagener syndrome can cause either the complete syndrome of situs inversus, bronchiectasis, and sinusitis or any combination of the three major features. When all features are present in a single individual the diagnosis is straightforward. When only a portion of the syndrome is present the finding of a sibling with the complete syndrome would support the diagnosis of Kartagener. It remains to be determined what proportion of families with partial manifestations can be explained by the abnormality of dynein arms. Genetic studies show that the large majority of cases of isolated situs inversus are not due to an autosomal recessive phenotype.
Severe male factor infertility: Genetic consequences and recommendations for genetic testing
Published in David K. Gardner, Ariel Weissman, Colin M. Howles, Zeev Shoham, Textbook of Assisted Reproductive Techniques, 2017
Katrien Stouffs, Willy Lissens, Sara Seneca
Primary ciliary dyskinesia or immotile cilia syndrome is an autosomal recessive disease presenting with chronic respiratory tract disease, rhinitis, and sinusitis due to immotile cilia. Male patients are usually infertile because of asthenozoospermia (58). If the above symptoms are associated with situs inversus, the condition is called Kartagener syndrome (59, 60). Men with this condition can reproduce with the help of ICSI. Genetic counseling is hampered because of the lack of knowledge of all genes involved in primary ciliary dyskinesia and Kartagener syndrome (60). However, if we accept the incidence of 1/25,000, the carrier frequency must be 1/80, which means that the risk of a man having an affected child is 1/160 (1 x 1/80 x 1/2).
Technique for Improving the Adoption of Minimally Invasive Surgery in Challenging Cases
Published in Journal of Investigative Surgery, 2021
Giorgio Bogani, Francesco Raspagliesi
In the recent decades minimally invasive surgery has gained popularity for the management of benign and malignant disease in various settings [1–3]. Growing data underlined the safety and effectiveness of laparoscopic approach for the management of several pathological conditions. Laparoscopy guarantees similar operative outcomes than open surgery, minimizing surgical trauma, and improving peri-operative outcomes for patients (including a faster return to normal activity and improved short-term quality of life in comparison with conventional open approach) [4, 5]. In the present investigation the Authors reviewed current evidence on the use of laparoscopic approach in patients with in situs inversus. Situs inversus is a rare genetic disorder in which transposition of the organ to the opposite site of the body occurs. Surgery might be challenging in patients with situs inversus. Especially, in patients undergoing cholecystectomy or colonic resection [6–9]. Accumulating data highlighted that minimally invasive approach improves outcomes of patients in comparison with open surgery. Further experiences are needed to improve quality of minimally invasive surgery, even in challenging cases.
Tetralogy of Fallot with isolated levocardia in a young female
Published in Journal of Community Hospital Internal Medicine Perspectives, 2019
Zeeshan Sattar, Hafez Muhammad Abdullah, Sohaib Roomi, Waqas Ullah, Adnan Khan, Ali Ghani, Asrar Ahmad
Scragg and Denny in 1952 reported the first documented case of TOF with situs inversus. That case was associated with dextrocardia [1]. Situs inversus is a condition in which the abdominal organs lie on the opposite side of the body. The heart may also lie on the opposite side and the term situs inversus with dextrocardia is used in such cases. Situs inversus commonly occurs with dextrocardia but rarely it may occur with a normally located left sided heart. Various terms have been used to describe the latter condition including ‘situs inversus with levocardia’, ‘isolated levocardia’ and ‘situs inversus incompletus’. The estimated incidence of isolated levocardia is 1 per 22,000 in the general population and it ranges from 0.4% to 1.2% in congenital heart disease patients [2,3]. Most cases of situs inversus with dextrocardia have a morphologically normal heart and only 3–5% of such patients have cardiac anomalies [4]. On the other hand up to 95% of cases of isolated levocardia have associated cardiac deformities like right ventricular outflow tract (RVOT) obstruction, septal defects, inversion of cardiac chambers and transposition of cardiac chambers [5]. However, the association of the full picture of TOF with isolated levocardia is quite rare [6,7]. Patients with isolated levocardia frequently have significant cardiac anomalies and as a result have a lower life expectancy. However, if diagnosed and managed properly, they can have a better outcome.
CT imaging features of paranasal sinuses in children with primary ciliary dyskinesia
Published in Acta Oto-Laryngologica, 2022
Huiying Lyu, Zhuoyao Guo, Chao Chen, Bo Duan, Zhengmin Xu, Wenxia Chen
Abnormal cilia ultrastructure and function of respiratory tract result in defective airway mucociliary clearances, lead to mucus and bacteria retention, and is responsible for recurrent respiratory infections. Upper respiratory tract infections lead to rhinitis, sinusitis, otitis media with effusion, hearing loss, etc.; lower respiratory tract infections lead to neonatal respiratory distress, chronic bronchitis, persistent wet cough, lung consolidation, atelectasis, bronchiectasis, etc. [4]. Kartagener syndrome, a triad of bronchiectasis, chronic sinusitis, and situs inversus, occurs in approximately half of PCD patients. In our study, situs inversus was also identified in almost half of cases (47.1%).