Results 61 to 70 of about 78,121 (298)

Total anomalous pulmonary vein drainage in a 60-year-old woman diagnosed in an ECG-gated multidetector computed tomography : a case report and review of literature [PDF]

, 2018
Purpose: Total anomalous pulmonary vein drainage (TAPVD) is a congenital cardiac defect in which there is no connection between pulmonary veins and the left atrium.
Adamczyk, Piotr, Czekajska-Chehab, Elżbieta, Drop, Andrzej, Siek, Elżbieta, Staśkiewicz, Grzegorz, Tomaszewski, Andrzej, Wojtkowska, Agnieszka, Zakościelna, Magdalena   +7 more
core   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Coffin-Siris syndrome with the rarest constellation of congenital cardiac defects: A case report with review of literature

Annals of Pediatric Cardiology, 2014
We report a case of type-A Coffin-Siris syndrome (CSS) with a unique constellation of congenital heart defects. A 17-year-old Indian boy was referred to our hospital for central cyanosis with features of right heart failure.
Lalita Nemani, Ramachandra Barik, Amar Narayana Patnaik, Ramesh C Mishra, Amaresh M Rao, Pragati Kapur   +5 more
doaj   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

A simple screening method for determining knowledge of the appropriate levels of activity and risk behaviour in young people with congenital cardiac conditions [PDF]

, 2007
Objective: To assess a novel method for assessing risk and providing advice about activity to children and young people with congenital cardiac disease and their parents. Design and setting: Questionnaire survey in outpatient clinics at a tertiary centre
Kendall, L, Lewin, R, Parsons, J, Sloper, P   +3 more
core   +1 more source

Prenatal Evaluation of RNU4‐2 Variants in Fetuses With Central Nervous System Anomalies

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Fetal central nervous system (CNS) anomalies are among the most common congenital malformations, yet the overall prenatal diagnostic yield of current genetic testing remains below 40%. Variants in RNU4‐2, a non‐coding gene encoding the U4 small nuclear RNA (snRNA), have recently been linked to a novel highly recurrent dominant ...
Yiyao Chen, Li Gao, Xu Han, Yunyun Cao, Lanlan Zhang, Yi Wu, Xinrong Zhao, Wenjing Hu, Ruiyu Ma, Renyi Hua, Niu Li, Yanlin Wang, Jian Wang, Shuyuan Li   +13 more
wiley   +1 more source

Midline one-stage complete unifocalization early outcomes from a single center

Anatolian Journal of Cardiology, 2019
Objective: This study aims to present our experience with single-stage complete unifocalization and intraoperative flow study for the repair of ventricular septal defect, pulmonary atresia, and major aortopulmonary collateral arteries.
Oktay Korun, Okan Yurdakök, Mehmet Dedemoğlu, İlker Kemal Yücel, Ahmet Çelebi, Şefika Türkan Kudsioğlu, Ahmet Sasmazel, Numan Ali Aydemir   +7 more
doaj   +1 more source

Aberrant migration and surgical removal of a heartworm (Dirofilaria immitis) from the femoral artery of a cat. [PDF]

, 2018
A cat was evaluated for an acute-onset of right pelvic limb paresis. Thoracic radiographs revealed normal cardiac size and tortuous pulmonary arteries.
Balsa, Ingrid M, Gunther-Harrington, Catherine T, Honkavaara, Juhana, McLarty, Ehren M, Oldach, Maureen S, Phillips, Kathryn L, Stern, Joshua A, Visser, Lance C, Wakeman, Kyle A   +8 more
core   +1 more source

TWEAK/Fn14 Signaling Drives Oxidative Cardiac Injury in Systemic Lupus Erythematosus: Evidence From Patient Biomarker Studies, Lupus Mouse Models, and Cardiomyocyte Assays

Arthritis &Rheumatology, EarlyView.
Objective Cardiac involvement is a major cause of morbidity in systemic lupus erythematosus (SLE). Tumor necrosis factor–like weak inducer of apoptosis (TWEAK) is elevated in SLE, but its contribution to lupus‐associated cardiac injury is unclear. We investigated the role of TWEAK/fibroblast growth factor–inducible 14 (Fn14) signaling in SLE‐related ...
Yale Liu, Zhu Yan, Xueting Peng, Meixuan Li, Juan Wang, Yan Zhang, Xiaoqian Hu, Mingzhu Zhou, Kaixuan Ren, Dan Zhang, Xingyi Guo, Yumin Xia, Huanhuan Huo   +12 more
wiley   +1 more source

Delayed presentation of ventricular septal defect secondary to penetrating cardiac trauma following stab wound to the chest

Journal of Research in Medical Sciences, 2008
<ul><li>Ventricular septal defect represents an uncommon sequel of penetrating cardiac trauma. A high index of suspicion, follow- up, and a complete evaluation of the patient who survives a penetrating heart injury is required.
Omid Aghadavoudi, Mohsen Mirmohamadsadeghi, Mahmoud Saeidi   +2 more
doaj