Results 61 to 70 of about 4,157,661 (176)

A common variant of hypoplastic left heart syndrome

Journal of the Indian Academy of Echocardiography & Cardiovascular Imaging, 2017
Hypoplastic left heart syndrome (HLHS) includes a group of closely related anomalies characterized by severe hypoplasia of the left-sided structures of the heart including rudimentary left ventricle, combinations of mitral and aortic valve stenosis, or ...
Ishita Banerji
doaj   +1 more source

Intrinsic myocardial defects underlie an Rbfox-deficient zebrafish model of hypoplastic left heart syndrome

Nature Communications, 2022
The developmental mechanisms responsible for the structural defects observed in hypoplastic left heart syndrome remain controversial. Using rbfox-deficient zebrafish, the authors implicate impaired cardiac function as a primary driver of disease.
Mengmeng Huang, Alexander A. Akerberg, Xiaoran Zhang, Haejin Yoon, Shakchhi Joshi, Celia Hallinan, Christopher Nguyen, William T. Pu, Marcia C. Haigis, C. Geoffrey Burns, Caroline E. Burns   +10 more
doaj   +1 more source

Spectrum of Congenital Malformations in Sex Chromosome Tetrasomies and Pentasomies: A Systematic Review

Andrology, EarlyView.
ABSTRACT Sex chromosome aneuploidies represent a heterogeneous group of chromosomal conditions, in which phenotypic complexity generally increases with the number of supernumerary sex chromosomes. While Turner syndrome and sex chromosome trisomies are relatively well characterized, less is known about congenital malformations in sex chromosome ...
Anna Colding, Jannie Traberg, Inger Lily Hjuler Dorf, Anne Skakkebæk   +3 more
wiley   +1 more source

Patient-specific genomics and cross-species functional analysis implicate LRP2 in hypoplastic left heart syndrome

eLife, 2020
Congenital heart diseases (CHDs), including hypoplastic left heart syndrome (HLHS), are genetically complex and poorly understood. Here, a multidisciplinary platform was established to functionally evaluate novel CHD gene candidates, based on whole ...
Jeanne L Theis, Georg Vogler, Maria A Missinato, Xing Li, Tanja Nielsen, Xin-Xin I Zeng, Almudena Martinez-Fernandez, Stanley M Walls, Anaïs Kervadec, James N Kezos, Katja Birker, Jared M Evans, Megan M O'Byrne, Zachary C Fogarty, André Terzic, Paul Grossfeld, Karen Ocorr, Timothy J Nelson, Timothy M Olson, Alexandre R Colas, Rolf Bodmer   +20 more
doaj   +1 more source

Standardized Reporting of Cardiac Magnetic Resonance Examinations in Children With Cardiac Diseases and Adults With Congenital Heart Disease: A Scientific Statement From the Association for European Pediatric and Congenital Cardiology (AEPC) and the International Society for Magnetic Resonance in Medicine (ISMRM)

Journal of Magnetic Resonance Imaging, EarlyView.
Francesca Raimondi, Inga Voges, Lamia Ait‐Ali, Sonya Babu‐Narayan, Rene Botnar, Barbara Burkhardt, Adrienne Campbell‐Washburn, Dominik Daniel Gabbert, Georg Hansmann, Willem A. Helbing, Hasan Hosan, Sylvia Krupickova, Heiner Latus, Duarte Martins, Colin McMahon, Christian Meierhofer, Vivek Muthurangu, Tiina Ojala, Pim van Ooij, Claudia Prieto, Milan Prsa, Kuberan Pushparajah, José F. Rodríguez Palomares, Samir Sarikouch, Lars Grosse‐Wortman, F. Gerald Greil, Heynric Grotenhuis   +26 more
wiley   +1 more source

Agreement between cardiac cycle time intervals and myocardial velocities measured by automated analysis of color tissue Doppler cine loops and by manual tracing of spectral pulsed‐wave tissue Doppler waveforms of sheep fetal heart under normal and pathological conditions: An experimental study

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
Automated cTDI in sheep fetuses provided reproducible measurements of myocardial velocities and heart rate that align well with manual pulsed‐wave TDI. For cardiac cycle duration metrics, the two modalities are not interchangeable. These findings support that automated cTDI is well suited for longitudinal assessment under both physiological and ...
Juulia Lantto, Maria Grazia Morena, Heikki Huhta, Amar Bhide, Jonas Johnson, Juha Räsänen, Ganesh Acharya   +6 more
wiley   +1 more source

Hypoplastic left heart syndrome: Report of a unique survivor [PDF]

, 1986
A remarkable patient is described, a child who has survived until the age of 7 years with hypoplastic left heart syndrome (mitral and aortic atresia) without surgical intervention. The child has led an active, normal life and, aside from minimal cyanosis,
Ellis, Kent, Ehrlich, Martin, Gersony, Welton M., Bierman, Fredrick Z.   +3 more
core   +1 more source

Multiscale Modeling of a Geometrically Tunable Shunt for Growing Pediatric Patients With Single Ventricle Physiology

Artificial Organs, EarlyView.
Here we investigated the development of a geometrically tunable blood for patients with single ventricle physiology. Two multiscale cardiovascular models were customized and implemented at timepoints spanning across the beginning and end of the shunt‐use period.
Ellen E. Garven, Ethan Kung, Randy M. Stevens, Christopher B. Rodell, Amy L. Throckmorton   +4 more
wiley   +1 more source

Current surgical options and outcomes for newborns with hypoplastic left heart syndrome

Anales de Pediatría (English Edition), 2019
Since the first successful palliation was performed by Norwood et al. in 1983, there have been substantial changes in diagnosis, management, and outcomes of hypoplastic left heart syndrome, Survival for stage 1 palliation has increased to 90% in many ...
Victor Bautista-Hernandez, Alejandro Avila-Alvarez, Gerald R. Marx, Pedro J. del Nido   +3 more
doaj   +1 more source

Variants in the Imprinted IGF2 Gene: A Review and Phasing of De Novo Variants Using Long‐Read Sequencing

Clinical Genetics, EarlyView.
Pathogenic IGF2 variants on the paternal allele can cause Silver–Russell syndrome, with highly variable growth and neurodevelopmental outcomes. Long‐read sequencing can determine the parental origin of de novo IGF2 variants via methylation patterns without parental samples, improving diagnostics for imprinted genes.
Trine Maxel Juul, Susanne Eriksen Boonen, Katja Venborg Pedersen, Caroline Hey Bækgaard, Martin Larsen, Maria Kibæk, Niels Illum, Malene Heideman, Christiane Nielsen, Emilie Boye Lester, Christina Fagerberg   +10 more
wiley   +1 more source