Results 101 to 110 of about 4,971 (229)
Clinical Case Reports, Volume 12, Issue 2, February 2024.Clinical impact of pharmacotherapy in phenotypic HoFH with large‐scale CNVs deletion in heterozygotes. Key Clinical Message Recent data reveal phenotypic HoFH patients may be responsive to PCSK9 inhibitors, challenging prior assumptions. Genetic testing advancements now more accurately forecast patient responses to these therapies, improving treatment ...
Ryosuke Tani +5 more
wiley +1 more source
Cardiac outcomes in adults with supravalvar aortic stenosis [PDF]
, 2017 Aims Supravalvar aortic stenosis is a rare form of left ventricular outflow tract obstruction that is often progressive in childhood. Little data are available on outcomes in the adult population.
Beauchesne, Luc +13 more
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Case Reports in Radiology, Volume 2024, Issue 1, 2024.Tetralogy of Fallot (TOF) is a significant cause of cyanotic congenital heart disease (CHD) encountered in childhood with few cases manifesting in adulthood. It has four classical features (ventricular septal defect, overriding of aorta, hypertrophy of right ventricular hypertrophy, and right ventricular outflow tract obstruction), but the clinical ...
Abhishek Dwivedi +5 more
wiley +1 more source
Progress of Congenital Heart Disease: The Team Approach as It Includes the Anesthesiologist [PDF]
, 1972 Advances in cardiac surgery have been great in the last 30 years, but further progress is anticipated, especially in infants. A cooperative effort involving referring physicians, pediatric cardiologists, physiologists, anesthesiologists, surgeons, and ...
McCue, Carolyn M.
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Human Mutation, Volume 2024, Issue 1, 2024.Recent advancements in the next‐generation sequencing have illuminated the occurrence of multiple genetic diagnoses (MGD). While exome sequencing has provided insights, genome sequencing (GS), the most comprehensive diagnostic tool, remains underexplored for studying MGD prevalence.
Fen Guo +6 more
wiley +1 more source
Williams-Beuren Syndrome and Congenital Lobar Emphysema: Uncommon Association with Common Pathology?
Case Reports in Pediatrics, 2017 Introduction. Congenital lobar emphysema (CLE) and Williams-Beuren Syndrome are two rare conditions that have only been reported together in a single case study. Case Presentation.
Timothy Andrew Walsh +2 more
doaj +1 more source
SUPRAVALVULAR AORTIC STENOSIS ASSSOCIATED WITHAORTIC ANEURYSM
Japanese Circulation Journal, 1971 A 32-year-old female patient had supravalvular aortic stenosis associated with aortic aneurysm. Supravalvular location of aortic stenosis within this rare combination of lesions has not, as far as we are aware, been reported. From the pathological findings, the nozzle action of stenosis is presumed to be an important causative factor in the growth of ...
SHUNNNOSUKE HANDA +7 more
openaire +4 more sources
Tetralogy of Fallot associated with supramitral ring: “Paying for a near miss” [PDF]
, 2015 A 13-year-old girl developed the features of congestive heart failure on day three of intracardiac repair of tetralogy of Fallot. A routine transthoracic echocardiography identified the missed supramitral ring (SMR), closely placed just above the mitral ...
Barik, Ramachandra, Nemani, Lalita
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Spectrum of findings in a family with nonsyndromic autosomal dominant supravalvular aortic stenosis: A doppler echocardiographic study [PDF]
, 1989 Nonsyndromic familial supravalvular aortic stenosis is an autosomal dominant disorder. However, for many reported families, systematic study of all family members with echocardiographic or hemodynamic techniques has not been performed and degree of ...
Carter, Guy A. +5 more
core +1 more source
An Autosomal-Recessive Form of Cutis Laxa Is Due to Homozygous Elastin Mutations, and the Phenotype May Be Modified by a Heterozygous Fibulin 5 Polymorphism [PDF]
, 2009 Cutis laxa (CL) is a heterogeneous group of connective tissue disorders characterized by loose, sagging skin and variable involvement of other organs.
Cure, Susan +9 more
core +1 more source