Results 71 to 80 of about 479,259 (314)

Electrocardiographic and Skin Manifestations of Turner Syndrome: Association With Cardiovascular Disease

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital heart disease (CHD) and dermatologic conditions such as lymphedema and acquired melanocytic nevi (AMN) are common in Turner Syndrome (TS). We hypothesized that abnormalities of cranial neural crest cell derivatives drive the skin and heart manifestations of TS. We conducted joint cardiac and skin examinations of volunteers at a 2023
Sarah Elsaim, Brett Vernier, Van Thi Thanh Truong, Riya T. Patel, Matthew Brown, Martin Chacon Portillo, Megan Rogge, David Rodriguez‐Buritica, Siddharth K. Prakash   +8 more
wiley   +1 more source

Aortic coarctation in an infant with RSV infection

, 2018
The paper presents a case of an infant with aortic coarctation, which was accidentally detected during respiratory infection. The child, who showed no symptoms either during the neonatal period or during the first six months of life, suddenly developed
Kamila Kalman-Toczyłowska, Kalman-Toczyłowska, Kamila   +1 more
core   +1 more source

Thoracic Stent Graft Implantation for Aortic Coarctation with Patent Ductus Arteriosus via Retroperitoneal Iliac Approach in the Presence of Small Sized Femoral Artery

Case Reports in Cardiology, 2016
Endovascular stent graft implantation is a favorable method for complex aortic coarctation accompanied by patent ductus arteriosus. Herein, an 18-year-old woman with complex aortic coarctation and patent ductus arteriosus was successfully treated by ...
Ozge Korkmaz, Osman Beton, Sabahattin Goksel, Hakkı Kaya, Ocal Berkan   +4 more
doaj   +1 more source

A soldier's return to duty after minimally invasive correction of complex congenital cardiovascular disease

Clinical Case Reports, 2023
We report a case of incidental detection of severe aortic coarctation, severe secundum atrial septal defect, and bicuspid aortic valve in an active‐duty military service member.
Tarin Phillips, Adam Kisling, Robert Gallagher   +2 more
doaj   +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

Aortic arch tortuosity with PHACE syndrome : a rare case scenario [PDF]

, 2016
PHACE syndrome is a rare neurocutaneous disorder characterised by an association of infantile haemangiomas with structural anomalies of brain, cerebral vasculature, eye, aorta and chest wall.1 Coarctation of aorta (COA) is most the common cardiac anomaly
Baidwan, A., Ganigara, M., Sharma, B., Vyas, Y.S., Rao, Nitin K., Reddy, A.K.   +5 more
core  

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Double lumen aortic arch in association with tetralogy of fallot [PDF]

, 2006
Article regarding a patient, an 11-month-old girl born with Cornelia de Lange syndrome and tetralogy of Fallot, who underwent placement of a right modified Blalock-Taussig shunt as a neonate.peer ...
Farra, H., Johnston, Troy Alan
core  

Aortic Coarctation in Neonates and Infants: Balloon Angioplasty or Surgical treatment?

Український журнал серцево-судинної хірургії, 2019
Coarctation of the aorta (CoA) is a discrete stenosis of the proximal thoracic aorta. The common clinical pattern is congestive heart failure in infancy.
Y. Truba, I. Dytkivski , E. Imanov , O. Plyska, L. Moshkyvska, I. Dzuriy, O. Golovenko, V. Lazoryshynets   +7 more
doaj   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr, Paul McKay, Juliana Marulanda, Zenghui Wu, Reggie Hamdy, Sena Tavukcu, Noémi Dahan‐Oliel, Frank Rauch   +7 more
wiley   +1 more source