a.Screenallfirst-degreerelativeswithechocardiography
i.Atthetimeofdiagnosis
ii.Periodiclong-termscreeningtoassessfor
progressiveaortopathy
2.Patientwith“other”aortopathies(Turnersyndrome,Williamssyndrome,
connectivetissuedisorderssuchasMarfansyndrome,Loeys-Dietz,
FTAAD)
a.Screeningoffirst-degreerelatives
i.FTAAD—isolatedcardiovascularscreening
becauseotherorgansystemsarenotinvolved:
echocardiographyplusadditionalaorticimaging
1.Ifgeneticmutationidentified
a.Genetic
counseling
b.Screenfirstdegreerelatives
forthemutation
2.Ifthoracicaneurysmsdiscovered
inoneormorefirst-degree
relatives
a.Screenseconddegreerelatives
b.Referralto
geneticsteam
ii.Otheraortopathies(Turnersyndrome,Williams
syndrome,connectivetissuedisorders)
1.Comprehensive,multisystem
evaluationtoincludeallorgans
systemspossiblyaffected
2.Cardiovascularscreeningwhich
willincludeechocardiography
andotheraorticimaging
Severaldifferentformsofinheritablecardiomyopathiesexistandcan
clinicallymanifestinanyagegroup.TheseincludeHCM,DCM,ARVD,left
ventricularnoncompaction(LVNC)andrestrictivecardiomyopathy(RCM).
HCMandDCMcanoccurasaresultofsarcomericmutationsorunderlying
metabolicdisorders.Relativelyspeaking,thesetwotypesofcardiomyopathyare
moreextensivelystudiedwiththemostofnumberofgeneticmutations
identified.However,notallmutationshavebeenidentified,making
comprehensivescreeningneeded,includingdetailedfamilyhistories,ECG,and
echocardiographictesting.
Onceapatienthasbeenidentifiedashavingacardiomyopathy,clinical
screeningofallfirst-degreerelatives,regardlessofthepresenceorabsenceof
symptoms,isrecommended.132Clinicalscreeningshouldinvolveadetailed
historywithfocusedquestionstoassessforsignsofheartfailureorarrhythmias,
physicalexamination,ECG,andechocardiography.Serologiesattheinitial
evaluationwithtestingofcreatinekinaseMM(CK-MM)levelsarealso
recommended.InfamiliesofpatientswithHCM,evaluationwithHolter
monitoringandexercisetreadmilltestingshouldalsobeperformed.Infamilies
ofARVD,Holtermonitoringshouldbeperformedaswellassignal-averaged
ECGsandconsiderationforcardiacmagneticresonanceimaging(MRI)if
indicated.Ifageneticmutationisnotidentifiedintheproband,thenlong-term
evaluationscreeningatvariousintervalsdependingontheinvolvedlesionsis
recommended.Ingeneral,ifnomutationsareidentifiedandinitialscreeningis
normal,repeatscreeningshouldbeperformedevery3to5yearsdependingon
theunderlyingconcern.Inpatientswhoarephenotypicallynegativebut
genotypepositive,screeningformostcardiomyopathiesshouldbeperformed
yearlyduringpediatric/pubertalyears.Similarly,inpatientswhohavean
abnormalinitialscreening,morefrequentfollow-upisrecommended.
Thegoalofallfamilialscreeningsistoidentifyat-riskfamilymemberswith
thehopesofreducingthemorbidityandmortalityassociatedwithhigh-risk
diseases.Whilegeneticmutationsareincreasinglyidentifiedforvarious
diseases,manycardiovasculardiseaseswithhighmorbidityandmortalityrates
havecomplexgeneticsthatarenotfullydefinedorunderstood.Assuch,there
remainsaneedforclinicalfamilialscreening.
RecommendedScreeningforCardiomyopathy
1.Patientwithidentifiedcardiomyopathy(HCM,DCM,RCM,ARVD)
a.Screenallfirst-degreerelatives—History,physical
examination,ECG,echocardiography;considerserologiesto
includeCK-MMlevels
i.HCM—includeHolterECGandstresstesting
ii.ARVD—considerHolterECG,signal-average
ECG,andcardiacMRI
iii.Ifgeneticmutationisnotidentified,andifthe
initialscreenisnormal—long-termevaluation
screeningatvariousintervals,generallyevery3
to5years
iv.Ifgeneticmutationisidentifiedthenfirst-degree
relativesshouldundergogenetictesting
a.Inscreenedpatientswhoare
genotype-positivebutphenotypenegative,follow-upscreening
shouldoccurannuallyduringthe
pediatric/pubertalyears