Results 91 to 100 of about 77,172 (303)

3.4 A PRESSURE-INDEPENDENT ARTERIAL REMODELLING AND AORTA DILATATION IN TREATED PATIENTS WITH FABRY DISEASE

Artery Research, 2009
Purpose: Fabry disease is a deficiency of lysosomal enzyme α-galactosidase A leading to accumulation of glycosphyngolipids in cardiac and vascular tissues.
C. Collin, M. Bensalah, H. Beaussier, D.P. Germain, E. Bozec, E. Mousseaux, S. Laurent, P. Boutouyrie   +7 more
doaj   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Bicuspid Valve Aortopathy: Is It Reasonable to Define a Different Surgical Cutoff Based on Different Aortic Wall Mechanical Properties Compared to Those of the Tricuspid Valve?

Journal of Cardiovascular Development and Disease
Background: In this study, we examined and compared ex vivo mechanical properties of aortic walls in patients with bicuspid (BAV) and tricuspid (TAV) aortic valve aortopathy to investigate if the anatomical peculiarities in the BAV group are related to ...
Pasquale Totaro, Alessandro Caimi, Giulia Formenton, Martina Musto, Martina Schembri, Simone Morganti, Stefano Pelenghi, Ferdinando Auricchio   +7 more
doaj   +1 more source

Emerging pharmacological treatments to prevent abdominal aortic aneurysm growth and rupture [PDF]

, 2015
Abdominal aortic aneurysm (AAA) is a local expansion of the abdominal aorta wall caused by a complex multifactorial maladaptive vascular remodeling. Despite recent advances in the management of cardiovascular diseases, there currently is no established ...
Fraga-Silva, Rodrigo, Stergiopulos, Nikolaos, Trachet, Bram   +2 more
core   +2 more sources

Vascular Abnormalities in Hypermobile Ehlers–Danlos Syndrome: A Retrospective Cohort Study

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Hypermobile Ehlers–Danlos syndrome (hEDS), while generally free from severe vascular complications, may occasionally present with cardiac and vascular abnormalities that warrant specific investigation. While studies have been conducted on the prevalence of cardiac involvement, none have focused on vascular aspects. This retrospective study was
Thomas Gehin, Malika Foy, Robert Carlier, Valentin Renault, Karelle Benistan   +4 more
wiley   +1 more source

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

Sleep apnea and the impact on cardiovascular risk in patients with Marfan syndrome [PDF]

, 2019
Background: Marfan syndrome (MFS) is an inherited connective tissue disorder characterized by ectopia lentis, aortic root dilation and dissection and specific skeletal features.
Bauters, Fré, De Backer, Julie, De Groote, Katya, De Wilde, Hans, De Wolf, Daniël, Dhondt, Karlien, Hertegonne, Katrien, Jordaens, Luc, Muiño Mosquera, Laura   +8 more
core   +1 more source

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +1 more source

Impact of Rapid Exome Sequencing on Pediatric Patients With Cardiomyopathy and Acute Heart Failure

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Few studies describe the impact of rapid exome sequencing (ES) on pediatric cardiomyopathy in urgent clinical settings. Here, we retrospectively report the impact of rapid singleton ES in pediatric patients presented with acute heart failure and isolated cardiomyopathy or myocarditis, between 2021 and 2023 at a single tertiary care center.
Tameemi Abdalla Moady, Tova Hershkovitz, Clair Habib, Ori Attias, Amir Hadash, Galit Tal, Asaad Khoury, Josef Ben‐Ari, Danny Eytan, Tamar Paperna, Karin Weiss   +10 more
wiley   +1 more source

P4.03 APOPTOSIS IN THE MEDIA OF THE AORTIC WALL AND ITS RELATIONSHIP WITH AORTIC VALVE MORPHOLOGY IN AORTIC DILATATION

Artery Research, 2013
Background: The aortic valve is normally tricuspid but may vary in that it can be made up of 1, 2 or 4 leaflets with each of these often associated with aortopathy, most commonly aortic dilatation.
H. Edwards, J. Dargan, L. Elliot, A. Modi, S. Ohri, P. Townsend   +5 more
doaj   +1 more source