Cor Vasa 2007, 49(4):138-142 | DOI: 10.33678/cor.2007.052

Molecular genetics in hypertrophic cardiomyopathy

Karol Čurila, Martin Pěnička, Hana Línková, Jiří Knot, Pavel Gregor

Kardiocentrum, Fakultní nemocnice Královské Vinohrady a 3. lékařská fakulta Univerzity Karlovy, Praha, Česká republika

Hypertrophic cardiomyopathy (HCMP) is a heart disease caused by mutations of the myocardial sarcomere genes. Its most serious complication is sudden death, which could be the first manifestation of this disease. At the other end of the prognosis range are forms with a benign prognosis, without shortening the lifespan of the patient. To date, none of the known factors has been able to identify individuals at the highest risk of sudden death. With the help of molecular genetic methods, gene mutations responsible for the development of HCMP can be recognized prior to the development of myocardial hypertrophy. The clinical picture of the patients is partially dependent on the affected gene, except for the risk of sudden death. Various mutations in a single gene can turn out to be malignant (associated with a high risk of sudden death) or benign (associated with a low risk of sudden death).
It has been shown that this diversity may be associated with the position of the mutation and with the induced amino acid alteration. The clinical picture is also affected by other factors such as pressure overload of the cardiac compartments or the polymorphisms of other genes. Use of the methods of molecular genetics for the diagnosis of and risk stratification in HCMP is still a matter of debate because of the high costs involved and its unclear contribution to assessment of the risk of sudden death. To date, molecular genetic methods have been found to be justified in screening the relatives of HCMP patients and have shown promise in prenatal diagnosis and genetic counseling.

Keywords: Hypertrophic cardiomyopathy; Genes; Mutation; Sudden death

Published: April 1, 2007  Show citation