Results 71 to 80 of about 74,924 (301)

Double outlet right ventricle with intact ventricular septum

Türk Kardiyoloji Derneği Arşivi, 2014
Double outlet right ventricle is a cardiac malformation in which both the aorta and pulmonary artery arise from the right ventricle. A double outlet right ventricle with intact ventricular septum is extremely rare.
Senem Özgür, Özben Ceylan, Vehbi Doğan, Utku Arman Örün   +3 more
doaj   +1 more source

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

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, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Left Ventricular Diverticulum of the Interventricular Septum

Arquivos Brasileiros de Cardiologia, 2014
In this study, we report a case of a healthy, 25‑year‑old male patient with presyncope during a football match divergent blood pressure, and a grade 3/6 aortic diastolic murmur. The echocardiogram showed a rounded structure in the basal area of the interventricular septum adjacent to the aortic valve, which causes inadequate commissural support ...
Barberato, Silvio Henrique, Barberato, Marcia Ferreira Alves   +1 more
openaire   +4 more sources

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

Three dimensional rotational angiography imaging of double aortic arch vascular ring [PDF]

, 2013
Three dimensional (3D) rotational angiography is a technique used increasingly for imaging in congenital heart disease. Here the use of this technique for imaging of double aortic arch vascular ring is described and the advantages of this modality. are
Moulick, Achintya, Ge, Shuping, Poe, E., Mesia, Cesar I., Patel, Brijesh, Coyle, J. C., Coren, J. S., Rosenbloom, C., Toib, A., Stevens, R. M.   +9 more
core  

Pulmonary atresia with intact ventricular septum: Strategy based on right ventricular morphology

, 2003
ObjectivesManagement strategy for pulmonary atresia with intact ventricular septum is controversial. We treated patients with this anomaly according to a management protocol based on our quantitative assessment of right ventricular morphology (index of ...
Murakami, Hirohisa, Oshima, Yoshihiro, Yamaguchi, Masahiro, Yoshida, Masahiro, Yoshimura, Naoki, Ohashi, Hidetaka, Oka, Shigeteru, Tei, Teruo   +7 more
core   +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

Ventricular septal defect associated with aneurysm of the membranous septum

, 1985
The most common variety of ventricular septal defect, a perimembranous defect, is frequently associated with a so-called aneurysm of the membranous septum. Previous studies have suggested that ventricular septal defects associated with an aneurysm of the
Fricker, Frederick J., Lenox, Cora C., Fischer, Donald R., Park, Sang C., Neches, William H., Mathews, Robert A., Beerman, Lee B., Zuberbuhler, James R.   +7 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

Success and limitations of right ventricular sinus myectomy for pulmonary atresia with intact ventricular septum

, 2008
ObjectivesRight ventricular sinus myectomy has been proposed for pulmonary atresia with intact ventricular septum for morphology falling within the uncertain area for eventual biventricular repair.
Mohan, Uthara, Brian W. Duncan, Geoffrey L. Rosenthal, Rajeswaran, Jeevanantham, Mumtaz, Muhammad, Bryant, Roosevelt, Edward R. Nowicki, Nowicki, Edward R., Jeevanantham Rajeswaran, Duncan, Brian W., Eugene H. Blackstone, Uthara Mohan, Mee, Roger B.B., Blackstone, Eugene H., Rosenthal, Geoffrey L., Roger B.B. Mee, Muhammad Mumtaz, Roosevelt Bryant   +17 more
core   +1 more source