Results 71 to 80 of about 44,851 (309)
, 2014 The defects that may be suitable for percutaneous closure are located within the muscular septum (muscular ventricular septal defects, MVSD) or in the perimembranous septum (perimembranous ventricular septal defects, PVSD) with or without aneurysm, and ...
Gianfranco Butera +3 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo +3 more
wiley +1 more source
Clinics, 2012 OBJECTIVE: Ventricular septal defects resulting from post-traumatic cardiac injury are very rare. Percutaneous closure has emerged as a method for treating this disorder.
Er-Ping Xi +7 more
doaj +1 more source
مجله كليه طب الكندي, 2020 Background: Congenital cardiac defects have a wide spectrum of severity in infants. About 30-40% of patients with congenital cardiac defects will be symptomatic in the 1st year of life, while the diagnosis was established in 60% of patients by the 1st ...
Husam T Al-Zuhairi
doaj +1 more source
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 +7 more
wiley +1 more source
Rare combination of aortopulmonary septal defect with other heart defects
Kazan medical journal, 2001 Defects between the ascending aorta and the pulmonary artery are among the rare congenital heart defects (CHD), occurring at a rate of 0.27%. In 10-15% of cases this CHD is combined with patent ductus arteriosus (PDP), coarctation of the aorta. Single cases of its combination with pulmonary artery stenosis have been described in the literature.
V. A. Lukanikhin +3 more
openaire +2 more sources
Heart disease in infants of diabetic mothers [PDF]
, 2000 Congenital anomalies occur more commonly in infants born to diabetic mothers, and cardiac defects predominate. Although respiratory problems are also frequently found in those infants, they need to be differentiated from cardiovascular problems that ...
Narchi, Hassib, Kulaylat, N.
core
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 +2 more
wiley +1 more source
Chapter: imaging of atrial and ventricular septal defects
, 2022 Septal defects together account for the majority of the congenital heart defects (CHD); these can occur in isolation or associated with other CHDs. Hemodynamic manifestations are dependent upon the size, location, and the number of the defects, along ...
Uppu, Santosh C.
core
, 2023 Background: Post-infarct ventricular septal defect (PIVSD) is a serious complication of myocardial infarction. We evaluated 3D-printing models in PIVSD clinical assessment and the feasibility of statistical shape modeling for morphological analysis of ...
Froso Sophocleous (14443056) +21 more
core +1 more source