Results 211 to 220 of about 249,781 (322)

Genotype–Phenotype Correlations, Treatment, and Prognosis of Children With Early‐Onset (Neonatal) Marfan Syndrome

open access: yesClinical Genetics, Volume 108, Issue 2, Page 134-145, August 2025.
Early‐onset Marfan syndrome (eoMFS) is a rare disorder with atrioventricular valve insufficiency being the most severe symptom. We propose to regard eoMFS as a spectrum, ranging from a severe disorder life‐threatening already before or immediately after birth, to a disorder with a better survival rate, creating a window for atrioventricular valve ...
Eva C. van der Leest   +12 more
wiley   +1 more source

Resuscitated Cardiac Arrest: Dynamic Mitral Regurgitation Treated With Transapical Valve Replacement. [PDF]

open access: yesJACC Case Rep
Nemola G   +8 more
europepmc   +1 more source

Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, Volume 197, Issue 7, July 2025.
ABSTRACT Sotos syndrome is a rare genetic disorder characterized by distinctive facial features, including a broad and prominent forehead, dolichocephaly, and learning disabilities ranging from mild to severe intellectual impairment. Affected individuals often show overgrowth in height and head circumference over two standard deviations.
Pasquale Di Letto   +52 more
wiley   +1 more source

Eclipsed mitral regurgitation and the role of multimodality imaging: a case report. [PDF]

open access: yesEur Heart J Case Rep
Kounas S   +4 more
europepmc   +1 more source

Transcatheter Mitral Valve Replacement in Patients with Heart Failure and Secondary Mitral Regurgitation: From COAPT Trial.

open access: yesJournal of the American College of Cardiology, 2019
F. Asch   +14 more
semanticscholar   +1 more source

The Effectiveness of Direct Oral Anticoagulation in the Treatment of Left Ventricular Thrombus in Noncompaction Cardiomyopathy: A Case Report

open access: yesClinical Case Reports, Volume 13, Issue 7, July 2025.
ABSTRACT The use of direct oral anticoagulants (DOACs) in the treatment of left ventricular thrombus (LVT) associated with specific types of cardiomyopathy like noncompaction cardiomyopathy (NCCM) is not established. We report a case of LVT in an NCCM patient treated with DOAC with complete resolution.
Ossama Maadarani   +3 more
wiley   +1 more source

The Management and Clinical Outcomes of Pregnancy in a Female With Glycogen Storage Disease Type IIIA Caused by Rare Variant

open access: yesJIMD Reports, Volume 66, Issue 4, July 2025.
ABSTRACT Glycogen storage disease type III (GSD III) is an inborn error of carbohydrate metabolism with an autosomal recessive inheritance pattern. Phenotypically, patients can manifest a broad clinical spectrum. Most patients affected with GSD IIIA (85%) have a non‐functional GDE enzyme primarily affecting the liver and cardiac/skeletal muscle (Type ...
Nuria Puente‐Ruiz   +9 more
wiley   +1 more source

The impact of pre-existing aortic stenosis and mitral regurgitation on patients with acute myocardial infarction. [PDF]

open access: yesSci Rep
Motovska Z   +14 more
europepmc   +1 more source

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