Table 7.

Genetics-Guided Diagnosis and Management of Cardiovascular Conditions

ConditionRole in DiagnosisRole in ManagementCitation(s)
Aortopathies
 Familial thoracic aortic aneurysm and dissectionConfirm clinical diagnosis and subtype classificationCausative gene can affect extent and type of screening for other abnormalities; aids with identification of family members at risk for the conditionHiratzka et al26
 Loeys-Dietz syndromeMajor criterion for diagnosis and subtype classificationConfirmed diagnosis can affect (1) timing of recommended surgical intervention and (2) extent and type of screening for other abnormalitiesMacCarrick et al53
 Marfan syndromeMajor criterion for diagnosisConfirmed diagnosis can affect (1) timing of recommended surgical intervention and (2) extent and type of screening for other abnormalitiesRadke et al52
Rhythm disorders
 Brugada syndromeCan support clinical diagnosisAids with identification of family members at risk for the conditionSchwartz et al32
Ackerman et al16
 Catecholaminergic polymorphic ventricular tachycardiaMajor criterion for diagnosis and subtype classificationAids with identification of family members at risk for the conditionSchwartz et al32
Ackerman et al16
 Long-QT syndromeConfirm clinical diagnosis and subtype classificationCausative gene may affect recommended treatment/therapeutic decisions and risk assessment; aids with identification of family members at risk for the conditionSchwartz et al32,56 Guidicessi et al57 Barsheshet et al58
Ackerman et al16
Cardiomyopathies
 Arrhythmogenic right ventricular cardiomyopathyMajor criterion for diagnosis and subtype classificationAids with identification of family members at risk for the conditionPinamonti et al59
Marcus et al60
 Hypertrophic/dilated cardiomyopathyCan support clinical diagnosis and subtype classificationAids with identification of family members at risk for the condition; informs how and when family members should be screened based on genotype statusHo et al61
Hershberger et al17
 RASopathy syndromesConfirm clinical diagnosis and subtype classificationCausative gene can affect extent and type of screening for other abnormalitiesRauen62
Neuromuscular disorders
 Duchenne/Becker muscular dystrophyMajor criterion for diagnosisCertain types of mutations can be specifically targeted using experimental treatmentsTouznik et al63
 Congenital muscular dystrophy; limb girdle muscular dystrophy; myotonic dystrophyConfirm clinical diagnosisCausative gene can affect occurrence, severity, and type of cardiac manifestations (ie, arrhythmias, conduction block, cardiomyopathy)Beynon et al64
Wang et al65
 Emery-Dreifuss muscular dystrophyMajor criterion for diagnosis and subtype classificationType of mutation (missense vs. truncating) is important for determining risk of sudden death and need for ICD placement for primary preventionvan Rijsingen et al54
 Friedreich ataxiaConfirm clinical diagnosisTrinucleotide repeat size correlates with severity and age of onset; aids with identification of family members at risk for the conditionCorben et al66
  • ICD indicates implantable cardioverter-defibrillator.