Results 101 to 110 of about 110,717 (284)

Genotypic and Phenotypic Characterization of Seven Individuals With Predicted Bone Morphogenetic Protein 2 (BMP2) Haploinsufficiency

Clinical Genetics, Volume 108, Issue 2, Page 199-205, August 2025.
BMP2 haploinsufficiency is known to be associated with short stature, skeletal malformations, specific craniofacial traits and cardiac malformations. This study including individuals with predicted BMP2 haploinsufficiency provides additional insight regarding less established and sometimes controversial phenotypes such as degree of developmental delay,
Elin Stavrén‐Eriksson, Anna Hammarsjö, Anna Lindstrand, Ann Nordgren, Giedre Grigelioniene, Maritta Hellström Pigg   +5 more
wiley   +1 more source

Common Phenotype in Patients With Mitral Valve Prolapse Who Experienced Sudden Cardiac Death.

Circulation, 2018
HAL is a multi-disciplinary open access archive for the deposit and dissemination of scientific research documents, whether they are published or not. The documents may come from teaching and research institutions in France or abroad, or from public or ...
J. Hourdain, M. Clavel, J. Deharo, S. Asirvatham, J. Aviérinos, G. Habib, F. Franceschi, V. Probst, N. Sadoul, R. Martins, C. Leclercq, M. Chauvin, J. Pasquié, P. Maury, G. Laurent, M. Ackerman, D. Hodge, M. Enriquez-Sarano   +17 more
semanticscholar   +1 more source

Computational estimates of annular diameter reveal genetic determinants of mitral valve function and disease

JCI Insight, 2022
The fibrous annulus of the mitral valve plays an important role in valvular function and cardiac physiology, while normal variation in the size of cardiovascular anatomy may share a genetic link with common and rare disease.
Mengyao Yu, Catherine Tcheandjieu, Adrien Georges, Ke Xiao, Helio Tejeda, Christian Dina, Thierry Le Tourneau, Madalina Fiterau, Renae Judy, Noah L. Tsao, Dulguun Amgalan, Chad J. Munger, Jesse M. Engreitz, Scott M. Damrauer, Nabila Bouatia-Naji, James R. Priest   +15 more
doaj   +1 more source

Clinical significance of cardiac murmurs: get the sound and rhythm! [PDF]

, 2014
C
van Loon, Gunther
core   +1 more source

Dynamic and quantitative evaluation of degenerative mitral valve disease: A dedicated framework based on cardiac magnetic resonance imaging [PDF]

, 2017
Background: Accurate quantification of mitral valve (MV) morphology and dynamic behavior over the cardiac cycle is crucial to understand the mechanisms of degenerative MV dysfunction and to guide the surgical intervention. Cardiac magnetic resonance (CMR)
Faggian, Giuseppe, Onorati, Francesco, Pappalardo, Omar A., Puppini, Giovanni, Redaelli, Alberto, Selmi, Matteo, Sturla, Francesco, Votta, Emiliano   +7 more
core   +1 more source

Selecting the Substantially Touched Vertebra as the Lowest Instrumented Vertebra in Spinal Surgeries for B3GALT6 ‐Related Disorders: Clinical Experience and Literature Review

Orthopaedic Surgery, Volume 17, Issue 7, Page 2025-2037, July 2025.
Selecting the STV as the LIV is recommended in spinal surgeries for patients with B3GALT6‐related disorders, considering the characteristic joint hypermobility associated with the condition. Additionally, preoperative Halo‐pelvic traction may also be safe and effective.
Aoran Maheshati, Kexin Xu, Ziquan Li, Guozhuang Li, Xiangjie Yin, Qing Li, Di Liu, Shengru Wang, Zhihong Wu, Guixing Qiu, Baozhong Zhang, Terry Jianguo Zhang, Yu Wang, Nan Wu   +13 more
wiley   +1 more source

Two women presenting aborted sudden cardiac arrest as the first event of mitral valve disease [PDF]

Acute and Critical Care, 2018
Mitral valve prolapse (MVP) is a relatively common valvular heart disease and is known to have a benign course. However, a certain subtype of MVP has a pathologic prognosis and can be accompanied by malignant cardiac arrhythmia causing sudden cardiac ...
Sua Kim, Jae Min Shim, Seong-Mi Park
doaj   +1 more source

Treatment patterns, outcomes and healthcare resource utilization of obstructive hypertrophic cardiomyopathy in England

ESC Heart Failure, Volume 12, Issue 3, Page 2034-2046, June 2025.
Abstract Aims Describe patient characteristics, treatment patterns, clinical outcomes, healthcare resource utilization (HCRU) and medical costs associated with patients who were diagnosed with obstructive hypertrophic cardiomyopathy (HCM) in clinical practice in England.
Faizel Osman, Carla L. Zema, Michael Hurst, Belinda Sandler, Florence Brellier, Ovie Utuama, Oksana Kirichek, John Houghton, Teresa Lemmer, Maite Tome Esteban   +9 more
wiley   +1 more source

The potential of mitral valve quantification in cardiovascular surgery

Alʹmanah Kliničeskoj Mediciny, 2018
Objective: To identify specifics of mitral valve anatomy in patients with mitral insufficiency of various origin using the Mitral Valve Quantification (MVQ) technique for an optimal choice of mitral valve repair strategy. Materials and methods: The study
A. A. Tolstikhina, T. V. Mashina, D. V. Mrikaev, V. S. Dzhanketova, O. I. Gromova, E. Z. Golukhova   +5 more
doaj   +1 more source

Impact of bileaflet mitral valve prolapse on quantification of mitral regurgitation with cardiac magnetic resonance: a single-center study. [PDF]

, 2017
To quantify mitral regurgitation (MR) with CMR, the regurgitant volume can be calculated as the difference between the left ventricular (LV) stroke volume (SV) measured with the Simpson's method and the reference SV, i.e.
De Blois, J., Jeanrenaud, X., Masci, P.G., Monney, P., Prša, M., Rutz, T., Schwitter, J., Vincenti, G.   +7 more
core   +1 more source