This test is indicated for:
- Diagnosis confirmation and refinement of a patient with a definite or suspected cardiomyopathy
- Predictive diagnosis in asymptomatic relatives.
- Individuals with a suspected or confirmed diagnosis of HCM
- Individuals with a family history of sudden death
- Individuals with left ventricular thickening and suspected HCM
- Athletes with ventricular hypertrophy
- Genetic study of family members for abnormalities identified in index cases
Test Benefits & Risk Management
Benefits of this test are:
- The diagnosis confirmation and refinement of a patient supposedly affected by HCM, e.g. discrimination between HCM and other causes of left ventricular (LV) hypertrophy, including hypertension, “athlete’s heart” and other metabolic or infiltrative storage disorders with LV hypertrophy that can mimic clinically diagnosed HCM (Fabry disease, Noonan disease, Danon disease, etc.).
An early identification, would allow an earlier treatment of these different conditions.
- The subsequent identification of affected relatives in families where a causative HCM mutation has already been found. This would allow an earlier management of at-risk members and avoid unnecessary further screening of non-carriers.
Risk management includes, but is not limited to:
- Monitoring of the disease: Regular cardiologic evaluation is advised to detect clinical signs of HCM and to estimate the risk of sudden cardiac death.
- Lifestyle changes: Intense physical activity (e.g., burst activities, sprinting), or systematic isometric exercise (e.g., heavy lifting) will be discouraged.
- Implantable cardiac defibrillators (ICDs) for secondary or primary prevention in patients at right risk of sudden cardiac death.
- A range of drugs exists to manage specific symptoms. For instance, drugs appropriate to control heart failure symptoms, such as beta-blockers, which may be used to relieve palpitation and calcium antagonists, which can similarly reduce palpitations and chest pains.
- Surgical septal myectomy. which removes some of the thickened muscle from the septum thereby relieving obstruction or alcohol septal ablation for progressive and drug-refractory heart failure caused by left ventricular outflow tract (LVOT) obstruction.
- Heart transplantation for systolic (or less frequently intractable diastolic) dysfunction associated with severe unrelenting symptoms.
- Drug therapy (Disopyramide, amiodarone, dronedarone) or possibly radiofrequency ablation or surgical maze procedure for atrial fibrillation.