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Assessment and Treatment of a Young Adult with Congenital Heart Disease and ADHD.
Hammerness PG, Cassidy AR, Potts H, Richardson A, Fogler J, Daly KP, Augustyn M. Hammerness PG, et al. J Dev Behav Pediatr. 2021 May 1;42(4):340-342. doi: 10.1097/DBP.0000000000000961. J Dev Behav Pediatr. 2021. PMID: 33859122
CASE: Phillip is a young man born with hypoplastic left heart syndrome referred to your practice for a range of mental health concerns. He underwent palliation to an extracardiac Fontan in infancy and experienced multiple complications over the next decade including val …
CASE: Phillip is a young man born with hypoplastic left heart syndrome referred to your practice for a range of mental health concern …
An Assessment of the Therapeutic Landscape for the Treatment of Heart Disease in the RASopathies.
Yi JS, Perla S, Bennett AM. Yi JS, et al. Cardiovasc Drugs Ther. 2023 Dec;37(6):1193-1204. doi: 10.1007/s10557-022-07324-0. Epub 2022 Feb 14. Cardiovasc Drugs Ther. 2023. PMID: 35156148 Review.
The RAS/mitogen-activated protein kinase (MAPK) pathway controls a plethora of developmental and post-developmental processes. It is now clear that mutations in the RAS-MAPK pathway cause developmental diseases collectively referred to as the RASopathies. The …
The RAS/mitogen-activated protein kinase (MAPK) pathway controls a plethora of developmental and post-developmental processes. …
Congenital left ventricular aneurysms and diverticula: definition, pathophysiology, clinical relevance and treatment.
Ohlow MA. Ohlow MA. Cardiology. 2006;106(2):63-72. doi: 10.1159/000092634. Epub 2006 Apr 12. Cardiology. 2006. PMID: 16612072 Review.
A congenital left ventricular aneurysm or diverticulum is a rare cardiac malformation; 411 cases have been reported since its first description in 1816, and other cardiac, vascular or thoraco-abdominal abnormalities have been shown in about 70%. ...Clinically …
A congenital left ventricular aneurysm or diverticulum is a rare cardiac malformation; 411 cases have been reported since its first d …
New insights into mitral valve dystrophy: a Filamin-A genotype-phenotype and outcome study.
Le Tourneau T, Le Scouarnec S, Cueff C, Bernstein D, Aalberts JJJ, Lecointe S, Mérot J, Bernstein JA, Oomen T, Dina C, Karakachoff M, Desal H, Al Habash O, Delling FN, Capoulade R, Suurmeijer AJH, Milan D, Norris RA, Markwald R, Aikawa E, Slaugenhaupt SA, Jeunemaitre X, Hagège A, Roussel JC, Trochu JN, Levine RA, Kyndt F, Probst V, Le Marec H, Schott JJ. Le Tourneau T, et al. Eur Heart J. 2018 Apr 14;39(15):1269-1277. doi: 10.1093/eurheartj/ehx505. Eur Heart J. 2018. PMID: 29020406 Free PMC article.
By contrast to regular MVP, mitral leaflet motion was clearly restricted in diastole and papillary muscles position was closer to mitral annulus. Valvular abnormalities were similar in the four families, in adults and young patients from early childhood suggestive o …
By contrast to regular MVP, mitral leaflet motion was clearly restricted in diastole and papillary muscles position was closer to mitral ann …
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.
Allali S, Le Goff C, Pressac-Diebold I, Pfennig G, Mahaut C, Dagoneau N, Alanay Y, Brady AF, Crow YJ, Devriendt K, Drouin-Garraud V, Flori E, Geneviève D, Hennekam RC, Hurst J, Krakow D, Le Merrer M, Lichtenbelt KD, Lynch SA, Lyonnet S, MacDermot K, Mansour S, Megarbané A, Santos HG, Splitt M, Superti-Furga A, Unger S, Williams D, Munnich A, Cormier-Daire V. Allali S, et al. J Med Genet. 2011 Jun;48(6):417-21. doi: 10.1136/jmg.2010.087544. Epub 2011 Mar 17. J Med Genet. 2011. PMID: 21415077 Free PMC article.
BACKGROUND: Geleophysic dysplasia (GD, OMIM 231050) is an autosomal recessive disorder characterised by short stature, small hands and feet, stiff joints, and thick skin. Patients often present with a progressive cardiac valvular disease which can lead to an early d …
BACKGROUND: Geleophysic dysplasia (GD, OMIM 231050) is an autosomal recessive disorder characterised by short stature, small hands and feet, …
Evaluating fenfluramine hydrochloride as an oral solution for the treatment of seizures associated with Lennox-Gastaut syndrome.
Besag FMC, Vasey MJ, Chin RFM. Besag FMC, et al. Expert Rev Neurother. 2024 Mar;24(3):235-249. doi: 10.1080/14737175.2024.2313548. Epub 2024 Feb 7. Expert Rev Neurother. 2024. PMID: 38315124 Review.
The authors then discuss the evidence for adverse effects that may be of particular concern to fenfluramine, namely cardiac abnormalities, and weight loss, in the context of the use of fenfluramine for the treatment of the refractory seizures in LGS. EXPERT OPINION: …
The authors then discuss the evidence for adverse effects that may be of particular concern to fenfluramine, namely cardiac abnorm …