Hypertrophic cardiomyopathy (extended panel) [134 genes]

Hypertrophic cardiomyopathy is a genetically based disease in which the thickening of the ventricular wall is observed without an external cause that justifies it. This disease has an associated risk of comorbidity, development of heart failure, ventricular arrhythmias, and sudden death, so early identification of causal genetic variant carriers would help prevent complications.

• Approximately 1/500 individuals

Genetic study in hypertrophic cardiomyopathy allows:

• A diagnostic confirmation, which is often an important support in the differential diagnosis.
• The most precise study of a patient’s relatives, so that carriers have access to an early/preclinical diagnosis and non-carriers can be safely discharged from cardiology consultations. It has been shown in this disease that this is a cost-effective strategy.
• An approach to the prognosis of each patient, depending on the type of genetic variant identified. Our scientific group has been a pioneer in this type of genotype-phenotype correlation analysis.

Once hypertrophic cardiomyopathy has been diagnosed in a patient, the genetic study is indicated as recommended by current clinical guidelines for the disease, as well as by a recent international consensus on genetic study in heart disease.
Specifically, this expanded panel is indicated when:

• The study with the basic panel is negative and there is a clear phenotype of hypertrophic cardiomyopathy, since the diagnostic yield increases.
• There is data that points to a very severe phenotype or one associated with syndromic traits and other rare genetic diseases.
• It is intended to carry out an exhaustive genetic study of this pathology since it is the most complete panel on the market.

The probability of detecting a causal genetic variant in a patient with suspected familial hypertrophic cardiomyopathy is approximately 50%, although the use of larger panels, such as this one, increases this probability.