Results 121 to 130 of about 355,187 (399)

Mental Health Treatment in Adults with Congenital Heart Disease in Germany: An Online, Cross-Sectional Study of Status, Needs, and Treatment Reasons

Journal of Cardiovascular Development and Disease
Improved medical treatments have extended survival and life expectancy in adults with congenital heart defects (ACHD), placing greater emphasis on psychosocial health.
Anna-Lena Ehmann, Emily Schütte, Janina Semmler, Felix Berger, Ulrike M. M. Bauer, Katharina Schmitt, Constanze Pfitzer, Paul C. Helm   +7 more
doaj   +1 more source

Prenatal diagnosis and treatment planning of congenital heart defects—possibilities and limits [PDF]

, 2018
Background: Newborns with hypoplastic left heart syndrome (HLHS) or right heart syndrome or other malformations with a single ventricle physiology and associated hypoplasia of the great arteries continue to be a challenge in terms of survival.
Carrel, Thierry, Meyer-Wittkopf, Matthias, Nelle, Mathias, Pavlovic, Mladen, Raio, Luigi, Surbek, Daniel   +5 more
core  

Non‐Invasive Prenatal Testing by Cell‐Free DNA (cfNIPT) for Detecting Turner Syndrome With Mosaicism and Structural Variants—Prenatal Findings and Postnatal Outcomes

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner Syndrome (TS) is a sex chromosomal disorder associated with karyotype heterogeneity. Although TS can be associated with severe prenatal findings, most often linked to the 45, X karyotype, the majority of TS fetuses have no overt phenotype, resulting in delayed diagnosis and management.
Ivonne Bedei, Johanna Bruder, Ida C. B. Lund, Simon H. Thomsen, Ida Vogel, Andrea T. Maciel‐Guerra, Francisco Alvarez‐Nava, Melissa L. Crenshaw, Roland Axt‐Fliedner, Claus H. Gravholt, Anne Skakkebæk   +10 more
wiley   +1 more source

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote, Sheetal R. Patel, Kristian Havmand Mortensen, Isabel Witvrouwen, Anthonie Duijnhouwer, Nicole M. Brown, Jasmine Grewal, Kathryn C. Chatfield, Aaron T. Dorfman, Siddharth K. Prakash   +9 more
wiley   +1 more source

Key Factors of Adherence in Cardiological Follow-Up of Adults with Congenital Heart Disease

Journal of Cardiovascular Development and Disease
Approximately 50% of adults with congenital heart defects (ACHD) lack specialised CHD care, increasing the risk of preventable complications and mortality.
Anna-Lena Ehmann, Emily Schütte, Janina Semmler, Felix Berger, Ulrike M. M. Bauer, Katharina Schmitt, Constanze Pfitzer, Paul C. Helm   +7 more
doaj   +1 more source

Tbx20 Is Required in Mid-Gestation Cardiomyocytes and Plays a Central Role in Atrial Development. [PDF]

, 2018
RationaleMutations in the transcription factor TBX20 (T-box 20) are associated with congenital heart disease. Germline ablation of Tbx20 results in abnormal heart development and embryonic lethality by embryonic day 9.5.
Aneas, Ivy, Bogomolovas, Julius, Boogerd, Cornelis J, Chen, Ju, Evans, Sylvia M, Joslin, Amelia C, Montefiori, Lindsey, Nobrega, Marcelo A, Sakabe, Noboru, Sobreira, Debora R, Zhang, Lunfeng, Zhou, Bin, Zhu, Xiaoming   +12 more
core   +2 more sources

Parental Decision‐Making Following a Prenatal Diagnosis of Turner Syndrome: A Systematic Review

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT This systematic review investigates factors influencing parental decision‐making following a prenatal diagnosis (PND) of Turner syndrome (TS), aiming to enhance the foundation for tailored and supportive genetic counseling. A comprehensive literature search was conducted in the medical databases PubMed, Embase, and CINAHL.
Inger Lily Hjuler Dorf, Stina Lou, Anne Skakkebæk   +2 more
wiley   +1 more source

Visualizing Turner Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) continues to present a diagnostic challenge to healthcare professionals. The diagnostic challenges associated with TS result in delayed treatment and clinical care. Here we provide an update of the physical appearance of girls and women with TS by presenting clinical photographs and detailed clinical descriptions of 25 ...
Kirstine Stochholm, Astrid Bruun Rasmussen, Anne Skakkebæk   +2 more
wiley   +1 more source

Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia

Thorax, 2018
Primary ciliary dyskinesia (PCD) is associated with abnormal organ positioning (situs) and congenital heart disease (CHD). This study investigated genotype–phenotype associations in PCD to facilitate risk predictions for cardiac and laterality defects ...
Sunayna Best, A. Shoemark, B. Rubbo, M. Patel, Mahmoud R. Fassad, M. Dixon, A. Rogers, R. Hirst, A. Rutman, S. Ollosson, C. Jackson, P. Goggin, Simon Thomas, R. Pengelly, T. Cullup, Eleni Pissaridou, Jane D. Hayward, A. Onoufriadis, C. O’Callaghan, M. Loebinger, R. Wilson, E. Chung, P. Kenia, V. Doughty, J. Carvalho, J. Lucas, H. Mitchison, C. Hogg   +27 more
semanticscholar   +1 more source

The Impact of Karyotype on Congenital Heart Diseases in Turner Syndrome: A Systematic Review and Meta‐Analysis

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT It is evident that Turner syndrome (TS) impacts almost all developmental stages of the fetal heart with congenital heart disease (CHD) being seen in 23%–50% of individuals. Although the spectrum of CHDs in TS is well‐established, with left‐sided lesions predominating, the influence of specific karyotypes on the prevalence and types of CHDs ...
Francisco Álvarez‐Nava, Melissa L. Crenshaw, Ivonne Bedei, Marisol Soto, Andréa T. Maciel‐Guerra, Anne Skakkebæk   +5 more
wiley   +1 more source