Genetic Testing

Genetic Testing For Heart Disease

HEART DISEASE AND GENETICS

 

More than 1 in 200 people have an inherited form of heart disease, but most don’t know it.

Patients with an inherited cardiovascular condition may have few or no symptoms but still face a significant risk of heart disease, including sudden cardiac arrest. Genetic testing can help save lives.

Comprehensive Genetic testing and analysis of 92 genes associated with inherited cardiomyopathies, arrhythmias, and other cardiovascular conditions is currently being offered Complimentary to Arizona Heart Rhythm Advantage Program Members. Please call the office or Advantage Member line for details.

Benefits of genetic testing:

Diagnosis of Heart Disease

  • Confirms a clinical diagnosis
  • Differentiates from other causes
  • Fulfills diagnostic criteria for complex heart disorders
  • Identifies at-risk asymptomatic and pre-symptomatic family members

Prognosis

  • Identifies patients and family members at highest risk for life-threatening arrhythmias, aortic dissections, or heart failure
  • Predicts response to pharmacotherapies

Management of Disease

  • Informs avoidance of certain medications and guides lifestyle modifications to avoid triggering cardiac events
  • Aids in the decision to place implantable cardiac defibrillator or pacemaker
  • Directs treatment options such as enzyme replacement therapy, early surgical intervention, and heart transplantation
  • Enables appropriate screening intervals and interventions for at-risk family members

 

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GENETIC TESTING: AORTOPATHY

Thoracic aortic aneurysms and dissections (TAAD), Marfan syndrome, and other related disorders are serious genetic conditions that often contribute to sudden cardiac death, so an accurate diagnosis is essential to prevent life-threatening events. TAAD gene panel precisely analyzes 35 genes associated with these disorders, helping you confirm a diagnosis that aids in patient management and treatment options.

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GENETIC TESTING: HYPERCHOLESTEROLEMIA

Familial hypercholesterolemia (FH) is an inherited disorder characterized by high cholesterol and an increased risk for heart disease. FH gene panel analyzes genes associated with familial hypercholesterolemia, which can clarify a diagnosis and allow for individualized disease management and treatment.

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GENETIC TESTING: ARRHYTHMIA

Long QT syndrome, Brugada syndrome, and short QT syndrome are inherited arrhythmias that are often asymptomatic and can lead to sudden cardiac death. LongQT 17 gene panel analyzes genes most commonly associated with these inherited arrhythmias. This test can be an effective way to confirm an arrhythmia disorder and direct medical management and treatment decisions.

Inherited arrhythmias such as BrSA, CPVT, LQTS, and SQTS can often lead to sudden cardiac death. A 42-gene panel analyzes genes associated with these arrhythmias and can be an effective way of confirming a diagnosis. At-risk individuals are identified with vital information aiding in management and intervention options for both the patient and their family.

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GENETIC TESTING: CARDIOMYOPATHY

  • Hypertrophic cardiomyopathy
  • Familial or idiopathic dilated cardiomyopathy
  • Arrhythmogenic right ventricular dysplasia/cardiomyopathy
  • Peripartum cardiomyopathy
  • Left ventricular non-compaction
  • Familial amyloidosis

Gene panels for hypertrophic cardiomyopathy (HCM). Often, HCM can be asymptomatic and sudden death is the first and only symptom. Therefore, genetic testing may be the most effective way of identifying at-risk individuals or confirming a diagnosis. HCM panel includes 30 genes that cause HCM. These genes make up over 80% of known genetic causes of HCM.

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