Inherited Cardiac Conditions

Cardiovascular Genetics

Comprehensive genetic testing for inherited heart conditions including cardiomyopathies, arrhythmias, familial hypercholesterolemia, and aortopathies.

12+ CARDIO PANELS

81+ GENES ANALYZED

1:200 CARRY A CARDIOMYOPATHY VARIANT

2-3 WEEKS TAT

Understanding Inherited Heart Conditions

Many cardiovascular conditions have a genetic basis and can run in families. Identifying the underlying genetic cause enables:

Accurate Diagnosis: Confirm suspected inherited heart conditions
Risk Stratification: Identify at-risk family members before symptoms develop
Sudden Cardiac Death Prevention: Implement preventive measures
Family Planning: Options for at-risk family members
Treatment Guidance: Personalized management strategies

Our cardiovascular genetics panels are designed to identify clinically actionable variants in genes associated with structural heart disease, electrical abnormalities, and vascular conditions.

Inherited Cardiovascular Conditions

Four main categories of genetic heart disease

Cardiomyopathies

Hypertrophic Cardiomyopathy (HCM)
Dilated Cardiomyopathy (DCM)
Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC)
Restrictive Cardiomyopathy
Left Ventricular Non-Compaction (LVNC)

MYH7 MYBPC3 TNNT2 TNNI3 LMNA

Primary Arrhythmias

Long QT Syndrome (LQTS)
Brugada Syndrome
Catecholaminergic Polymorphic VT (CPVT)
Short QT Syndrome
Progressive Cardiac Conduction Disease

KCNQ1 KCNH2 SCN5A RYR2 CACNA1C

Lipid Disorders

Familial Hypercholesterolemia (FH)
Familial Combined Hyperlipidemia
Sitosterolemia
Lipoprotein(a) Elevation

LDLR APOB PCSK9 LDLRAP1

Aortopathies

Marfan Syndrome
Loeys-Dietz Syndrome
Vascular Ehlers-Danlos Syndrome
Familial Thoracic Aortic Aneurysm

FBN1 TGFBR1 TGFBR2 COL3A1 ACTA2

Pulmonary Hypertension

Heritable Pulmonary Arterial Hypertension
Pulmonary Veno-occlusive Disease

BMPR2 ACVRL1 ENG SMAD9

Other Cardiac Conditions

Congenital Heart Disease
Cardiac Amyloidosis
Cardiac Sarcoidosis (genetic susceptibility)
RASopathies (Noonan syndrome)

Inherited Cardiomyopathies

Genetic disorders of heart muscle structure and function

Hypertrophic Cardiomyopathy (HCM)

Most common inherited heart disease (1:500). Thickening of heart muscle, risk of sudden cardiac death, heart failure, and atrial fibrillation. Autosomal dominant inheritance with variable penetrance.

MYH7 MYBPC3 TNNT2 TNNI3 TPM1 MYL2 MYL3 ACTC1

Dilated Cardiomyopathy (DCM)

Enlargement and weakening of heart chambers, leading to heart failure. Highly heterogeneous with over 50 associated genes. May present with conduction disease, arrhythmias, and sudden death.

LMNA MYH7 TNNT2 TTN BAG3 RBM20 PLN DSP

Arrhythmogenic Cardiomyopathy (ARVC)

Progressive replacement of heart muscle with fibrous-fatty tissue, primarily affecting right ventricle. High risk of ventricular arrhythmias and sudden death, especially in young athletes.

PKP2 DSP DSG2 DSC2 JUP TMEM43 PLN

Primary Arrhythmia Syndromes

Genetic disorders of cardiac ion channels and electrical function

Long QT Syndrome (LQTS)

Autosomal dominant (Romano-Ward) or recessive (Jervell and Lange-Nielsen)

Prolonged QT interval on ECG, increased risk of torsade de pointes and sudden death. Triggers include exercise, emotion, and certain medications.

1:2,500

Brugada Syndrome

Autosomal dominant

Characteristic ECG pattern (coved-type ST elevation in V1-V3), risk of ventricular fibrillation and sudden death, often during sleep or with fever.

1:5,000

Catecholaminergic Polymorphic VT (CPVT)

Autosomal dominant (RYR2) or recessive (CASQ2)

Stress-induced bidirectional/polymorphic ventricular tachycardia in structurally normal hearts. High mortality without treatment.

1:10,000

Short QT Syndrome

Autosomal dominant

Shortened QT interval, increased risk of atrial and ventricular fibrillation. Rare but highly lethal.

Very rare

Progressive Cardiac Conduction Disease

Autosomal dominant

Progressive slowing of cardiac conduction, leading to heart block and pacemaker requirement. Often associated with cardiomyopathy (especially LMNA).

Early Repolarization Syndrome

Complex

J-point elevation on ECG, associated with idiopathic ventricular fibrillation in some individuals.

Familial Hypercholesterolemia (FH)

One of the most common inherited metabolic disorders, FH causes severely elevated LDL cholesterol from birth, leading to premature atherosclerotic cardiovascular disease.

1:250

Heterozygous FH prevalence

1:160,000

Homozygous FH prevalence

20x

Increased CAD risk

Key Genes:

LDLR APOB PCSK9 LDLRAP1

LDLR mutations account for ~90% of cases

Inherited Aortopathies

Genetic conditions affecting the aorta and connective tissue

Marfan Syndrome

Autosomal dominant connective tissue disorder affecting cardiovascular, skeletal, and ocular systems. Progressive aortic root dilation leads to risk of dissection.

FBN1

Loeys-Dietz Syndrome

Aggressive aortopathy with arterial tortuosity, hypertelorism, and bifid uvula. Higher risk of dissection at smaller aortic diameters.

TGFBR1 TGFBR2 SMAD3 TGFB2 TGFB3

Vascular Ehlers-Danlos Syndrome

Severe connective tissue disorder with risk of arterial, uterine, and intestinal rupture. Reduced life expectancy.

COL3A1

Familial Thoracic Aortic Aneurysm

Non-syndromic thoracic aortic aneurysms and dissections without other systemic features. Variable penetrance and expression.

ACTA2 MYH11 MYLK PRKG1 LOX

Cardiovascular Testing Panels

Comprehensive options for inherited cardiac conditions

Comprehensive Cardiomyopathy Panel

50+ genes

Hypertrophic cardiomyopathy (HCM)
Dilated cardiomyopathy (DCM)
ARVC
Left ventricular non-compaction
Restrictive cardiomyopathy

Comprehensive Arrhythmia Panel

40+ genes

Long QT syndrome (LQTS)
Brugada syndrome
CPVT
Short QT syndrome
Conduction disease

Familial Hypercholesterolemia Panel

4 genes + risk variants

LDLR (copy number analysis included)
APOB
PCSK9
LDLRAP1 (recessive FH)

Aortopathy Panel

20+ genes

Marfan syndrome
Loeys-Dietz syndrome
Vascular Ehlers-Danlos
Familial thoracic aortic aneurysm

Comprehensive Cardio Panel

100+ genes

All cardiomyopathies
All primary arrhythmias
Familial hypercholesterolemia
Aortopathies
RASopathies

Sudden Death Panel

80+ genes

Post-mortem genetic testing
All major arrhythmia genes
Cardiomyopathy genes
Aortopathy genes

Who Should Consider Cardiovascular Genetic Testing?

Indications for inherited cardiac condition testing

Personal History

Diagnosed cardiomyopathy
Unexplained syncope
Aborted cardiac arrest
Documented arrhythmia
Early-onset CAD

Family History

Sudden unexplained death
Known familial variant
Multiple family members with cardiomyopathy
Early-onset heart disease

Clinical Findings

Abnormal ECG
LVH on echocardiogram
Dilated aorta
Extremely high cholesterol