Pectus - Preoperative Assessment - Genetics

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Topic overview

Dr. Derek E, Neilson discusses thegenetic evaluation for a pectus excavatum. Dr. Neilson elaborates on the evaluationtechniques used which include primarily Marfan syndrome, the skeletal evaluation or physical findings, as well as thecardiac risks associated with Marfan syndrome. Dr. Neilsonintroduces another condition, Ehlers Danlos Syndrome, involving different types includingconnective tissue defects, vascular defects, and hyper mobility or flexibility.He discusses the Beighton score used in joint testing for Ehlers Danlos Syndrome, differentiation between Ethers Danlos Syndrome and extremeflexibility and indicators, fibromyalgia and hyper mobility.

Keywords

pectus excavatumgenetic evaluationMarfan syndromeEhlers-Danlos syndromecollagen defectsjoint hypermobilitycardiac riskaortic dissectionmitral valve prolapseechocardiogramMRITGF beta signalingBiton scorehypermobile typechronic painfibromyalgiaorthostatic hypotensionretinal detachmentsscoliosisconnective tissue disorders

Hashtags

#PectusExcavatum#GeneticEvaluation#MarfanSyndrome#EhlersDanlos#CollagenDefects#JointHypermobility#CardiacRisk#AorticDissection#MitralValveProlapse#Echocardiogram#MRI#TGFbeta#BitonScore#ChronicPain#Fibromyalgia#OrthostaticHypotension#RetinalDetachment#Scoliosis#ConnectiveTissue#MedicalEducation
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