Results 61 to 70 of about 2,246,280 (273)

CHD associated with syndromic diagnoses: peri-operative risk factors and early outcomes [PDF]

, 2015
CHD is frequently associated with a genetic syndrome. These syndromes often present specific cardiovascular and non-cardiovascular co-morbidities that confer significant peri-operative risks affecting multiple organ systems.
Cooper, David S., Hinton, Robert B., Landis, Benjamin J.   +2 more
core   +1 more source

A Rare Variation of the Heterotaxy Syndrome

Case Reports in Medicine, 2012
Heterotaxy syndrome is a rare, complex, and confusing type of the situs anomalies. It is not possible to estimate the degree of lateralization, isomerism, and rotational variation in these types of cases.
Alper Dilli, Salih Sinan Gultekin, Umit Yasar Ayaz, Hatice Kaplanoglu, Baki Hekimoglu   +4 more
doaj   +1 more source

Antenatal diagnosis of left atrial isomerism and heterotaxy syndrome in fetus with Meckel-Gruber syndrome

Türk Kardiyoloji Derneği Arşivi, 2014
We aimed to present a fetus with Meckel-Gruber syndrome (MKS) who had left atrial isomerism, heterotaxy syndrome and complete heart block. A 26-year-old healthy female was referred to our clinic in the 23rd week of her pregnancy.
Seçil Kurtulmuş, Savaş Demirpençe, Deniz Can Öztekin, Altuğ Koç, Vedide Tavlı   +4 more
doaj   +1 more source

Systems Analysis Implicates WAVE2 Complex in the Pathogenesis of Developmental Left-Sided Obstructive Heart Defects. [PDF]

, 2020
Genetic variants are the primary driver of congenital heart disease (CHD) pathogenesis. However, our ability to identify causative variants is limited.
Bernstein, Daniel, Bisgrove, Brent W, Brueckner, Martina, Chung, Wendy K, Deanfield, John, Demarest, Bradley, Edwards, Jonathan J, Fernandez, Nicolas F, Gelb, Bruce D, Giardini, Alessandro, Goldmuntz, Elizabeth, Kim, Richard, Lachmann, Alexander, Lifton, Richard P, Ma'ayan, Avi, Newburger, Jane W, Porter, George, Roberts, Amy E, Rouillard, Andrew D, Seidman, Christine E, Shankaran, Sunita S, Srivastava, Deepak, Tristani-Firouzi, Martin, Turan, Nahid, Wang, Zichen, Yost, H Joseph   +25 more
core  

Genetic and Developmental Basis of Cardiovascular Malformations [PDF]

, 2016
Cardiovascular malformations (CVMs) are the most common birth defect, occurring in 1% to 5% of all live births. Genetic, epigenetic, and environmental factors all influence the development of CVMs, and an improved understanding of the causation of CVMs ...
Azhar, Mohamad, Ware, Stephanie M.
core   +1 more source

Management for Heterotaxy Syndrome With Functional Single Ventricle and Extracardiac Total Anomalous Pulmonary Venous Connection

Tokyo Women's Medical University Journal, 2023
Background: Heterotaxy syndrome associated with functional single ventricle and extracardiac total anomalous pulmonary venous connection (TAPVC) is characterized by high operative risks and has high mortality rate.
Minori Tateishi, Masaaki Koide
doaj   +1 more source

Primary Ciliary Dyskinesia: An Update on Clinical Aspects, Genetics, Diagnosis, and Future Treatment Strategies [PDF]

, 2017
Primary ciliary dyskinesia (PCD) is an orphan disease (MIM 244400), autosomal recessive inherited, characterized by motile ciliary dysfunction. The estimated prevalence of PCD is 1:10,000 to 1:20,000 live-born children, but true prevalence could be even ...
Abete, Afzelius, Afzelius, Afzelius, Alanin, Altenburg, Bartoloni, Behan, Bhatt, Bilton, Boaretto, Boe, Boon, Boon, Boon, Bradley, Brenner, Brown, Bush, Bush, Campbell, Carotenuto, Chang, Chang, Chernick, Cohen-Cymberknoh, Cole, Coren, Davis, Daviskas, De Benedetti, Desai, Deuse, Eastham, El-Abiad, Eliasson, Elkins, Ellerman, Fedakar, Ferkol, Ferkol, Fliegauf, Fliegauf, Flume, Fokkens, Fretzayas, Frommer, Fuchs, Gokdemir, Goutaki, Halbert, Hart, Hellinckx, Hill, Horani, Horani, Irving, Jeanson, Kartagener, Kellett, Kennedy, Kennedy, Kennedy, Kim, King, Knowles, Knowles, Knowles, Kobbernagel, Konstan, Kott, Kuehni, Kumar, Lai, Lebl, Leigh, Lucas, Lucas, Lucas, Lucas, Macchiarini, Mackerness, Madsen, Maglione, Maglione, Manna, Marks, Marthin, Marthin, Marthin, Mateos-Corral, McManus, Merveille, Mirra, Mitchison, Montella, Montella, Montella, Montella, Moore, Mossberg, Mullowney, Munro, Nakhleh, Nicolson, Noone, Noone, Oktem, Olbrich, Omran, Onoufriadis, Onoufriadis, O’Callaghan, O’Callaghan, Paff, Paff, Papon, Pasteur, Patella, Phillips, Picot, Pifferi, Potter, Prulière-Escabasse, Raidt, Rogers, Rutland, Sagel, Santamaria, Santamaria, Schwabe, Serisier, Shah, Shapiro, Shoemark, Sommer, Spagnolo, Stenbit, Stillwell, Sturgess, Svobodova, ten Berge, Valerio, Walker, Wallmeier, Werner, Werner, Wirschell, Wong, Yan-Wei, Zimmerman   +150 more
core   +1 more source

Aortic pseudocoarctation associated with polysplenia/heterotaxy syndrome

Revista Portuguesa de Cardiologia, 2015
Polysplenia/heterotaxy syndrome is a rare congenital disorder associated with a wide spectrum of anomalies in various organ systems. Although anomalies of the cardiovascular system are common in this syndrome, the authors report a rare case of ...
Ricardo Duarte, Humberto Morais
doaj   +1 more source

Splenic Infarct with Polysplenia Syndrome

Journal of the Belgian Society of Radiology, 2022
A rare case of spontaneous splenic infarction with polysplenia is presented. The diagnosis was made by confirmed by enhanced computed tomography (CT), which showed multiple spleens in the left abdomen and one of the spleen showing low attenuation areas ...
Qin Ling Zhu, Wenjun Zhu
doaj   +1 more source

The analysis of heterotaxy patients reveals new loss-of-function variants of GRK5 [PDF]

, 2016
G protein-coupled receptor kinase 5 (GRK5) is a regulator of cardiac performance and a potential therapeutic target in heart failure in the adult. Additionally, we have previously classified GRK5 as a determinant of left-right asymmetry and proper heart ...
Bauer, Ulrike M. M., Burkhalter, Martin D., Hitz, Marc-Phillip, Kubisch, Christian, Lessel, Davor, Moepps, Barbara, Muhammad, Tariq, Philipp, Melanie, Rentzsch, Axel, Schalinski, Adelheid, Schubert, Stephan, Tena, Teresa Casar, Toka, Okan, Ware, Stephanie M.   +13 more
core   +2 more sources