International SCAD research update and the never-ending...
Transcript of International SCAD research update and the never-ending...
InternationalSCADresearchupdateandthenever-endingquesttoraiseawarenessaboutSCADamongmedicalprofessionals
DaveAdlam
Strengthinnumbers?• Holland~200• France~300• Switzerland~100• Spain~200• Italy~150• Australia~120• NewZealand~100• Brazil~100• MayoClinicUS~600• VancouverCanada~600
Supportedby:theESC-ACCASCADStudyGroup
Barcelona2017• 53activemembersandgrowing• 15Europeancountries
AimsandObjectives• Toestablishacollaborativepartnershiptoadvanceresearch
intoSCAD• TomaintainaEuropeanregistryofSCADpatientstoadvance
understandingofepidemiologyandvariationsinpatientmanagementandoutcomes
• Tocoordinateandsupportclinicalandpre-clinicalresearchintoSCAD
• ToformulateanddisseminateaEuropeanconsensusonthediagnosisandmanagementofSCAD
• ToimproveaccuratediagnosisbyraisingawarenessofSCAD• Tosupportpatientswiththiscondition
ESC-ACCASCADStudyGroupESCSCADpositionstatement
Research
Pathophysiologyandgenetics
Epidemiologyandoutcomes
Clinical,interventionalandmedical
EducationofHealthCareprofessionals
EORP-SCADRegistry
JointstatementwithFMDgroup
LiaisonwithEAPCIreguidelines
Jointstatementwithcardiacpathologygroup
LinkwithEuropeanFMDRegistry
LinkwithEuropeanROPOC
EORPSCADRegistry:aplatformforresearch,consensusand
education
Supportedby:theESC-ACCASCADStudyGroup
• SCADOCTstudy:UK,Spain,CzechRepublic,Brazil• Keyquestions:
– isSCAD=coronaryFMD?– IscoronaryinflammationcauseoreffectinSCAD?
InternationalConnections
InternationalConnections
• SCAD– coronaryCTstudy(UK,Spain,NewZealand)• Keyquestions:
– CanCTbeusedtodiagnose(orexclude)SCAD– CanCTbeusedtofollowuphealingafterSCAD
Currentstatus– juststartedgettingNZscans
A
B
InternationalConnections• Genetics(UK,US– MayoandNY,Australia,France,Belgium)
• GWASandsequencingstudies
Overlappingconditions
InheritanceofSCAD
• Mostcasesappearsporadic• Familialcases(sib-sibpairsormother-daughterpairs)described
butappearrate(<5%cases)• Associationwithhereditaryconnectivetissuedisordersbut
screeningforknowngeneshaslowyield
SCADrarevariants
• TGFbetarelatedgenes• Otherconnectivetissuedisordergenes
SCADcommonvariant
• PHACTR1/EDN1on6q24,commonallelers9349379-AassociatedwithincreasedriskofFMD,CCeAD,migraine
• Minorallelers9349379-Gassociatedwithincreasedriskofischaemic heartdisease
• Non-codingvariant– putativeenhancerforEDN1• Investigatedin 1,055patientsand7,190controls
Internationalconnections• P-SCAD– StanfordP-SCADstudy(UK,USA,France)– UKbiggestsinglecontributor– Thankstothosecompletingquestionnaires!
• PregnancyafterSCAD
Researchstrategy• Continuetoseekfunding• WeneedyourDNA• Weneedcompletequestionnaires– weknowtheyarelong
andwecanhelp• Skin• Clinicalversusresearchimaging• Continuedphenotypingbutnecessarilyselective• Workonbloodsamples
• TalksgivenatAdvancedcardiovascularinterventionsandBritishCardiovascularSociety,EuropeanSocietyofCardiology,MayoClinic
• TalksatLincoln,Nottingham,WestMidlands,Coventry,Oxford,Transpennine,EastMidlands,WilliamHarveyInstitute,MayoClinic,EAPCIboard
• Individualconsultantleveladvice
Spreadingtheword
Thanksto• OurfriendsandcolleaguesthroughouttheEuropeforsendinguspatients• TheSCAD-survivorsandBEATSCAD• TheACCAstudygroup(ChristiaanVrints,AngelaMaas,FernandoAlfonsoand
others)• TheBritishHeartFoundation• TheNIHRrarediseasetranslationalresearchcollaboration• EveryoneattheLeicesterNIHRCardiovascularBiomedicalResearchUnit• MarySheppard,RosaMariaBruno,PierreBoutouyrie,AlexandrePersu,Patricia
VanderNiepen,MarilucyLopez-Sublet,NabilaBouatia-Naji,BartLoeys• SharonneHayes,RajivGulati,MarysiaTweet,TimOlson,JasonKovacic,Bob
Graham• DrAbtehaleAl-Hussaini(Abi),DrFrancescaSaini,DrRobJackson,ProfNJSamani,
ProfGMcCann,Ania Baranowska