Introduction:

Familial hypertrophic myocardiopathy is a hereditary autosomal dominant trait of hypertrophic myocardiopathy, of incomplete penetrance and variable expression.

Studies carried out on the family of an index case of hypertrophic obstructive myocardiopathy gave a 50% probability of suffering from the disease.

Material and methods:

Family members (children, brothers and sisters) of an index case were recruited and were invited to volunteer to have a transthoracic electrocardiogram, stress test, and Holter test performed. A semi-structured questionnaire was completed in order to obtain sociodemographic data, personal and family history, and physical activity habits. The criteria used in the Spanish Cardiology Society guidelines were followed to make the diagnosis.

Results:

In the 11 cases evaluated, 4 members of the family were identified with diagnostic criteria of hypertrophic myocardiopathy, and 5 with arterial hypertension.

Conclusions:

With the study of the family members of the index patient, it was discovered that this disease affected 2 first degree and 2 second degree family members, with a predominance of male gender (3:1). The female case was also found to have arterial hypertension and hypertrophic cardiomyopathy associated with atrial fibrillation. None of them had a personal history of syncope or sudden death resuscitation.

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