International SCAD research update and the never-ending ...beatscad.org.uk/wp-content/uploads/2018/06/Is-SCAD-in-the-genes-D… · ESC SCAD position ESC-ACCA SCAD Study Group statement

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