Genetic Heart Disease Can Be Detected

Patients with Genetic Mutation Already Have Weaker Heart

/ Author:  / Reviewed by: Joseph V. Madia, MD

(RxWiki News) Many times heart disease is a surprise to unsuspecting patients -- especially those with no telltale signs such as hypertension, high cholesterol or a previously unidentified genetic condition

A study shows that molecular imaging can detect signs of genetic heart disease because patients with an inherited mutation already have weaker hearts.

"Ask your parents about family history of heart disease."

The research was specific to individuals who have hypertrophic cardiomyopathy, a condition in which the heart muscle becomes thick. The thickening makes it harder for blood to leave the heart, forcing the heart to work harder to pump blood.

The study showed that the effects of genetic mutation, called MYBPC3, may be important to understanding the disease. The molecular imaging has potential for clinical cardiology use since often one of the first symptoms of the disease is death from arrhythmia, making detection of significant importance, said researcher Dr. Stefan Timmer of the Free University Medical Centre in Amsterdam.

In the study, researchers took a PET scan of 16 patients with the genetic mutation to image the heart's oxygen usage. Researchers also examined cardiovascular MRIs to gauge the heart's ability to use energy efficiently. It showed that carriers of the mutation already have a less efficient heart even prior to the thickening  though there may be no symptoms.

A related study has revealed that a treatment called alcohol septal ablation is an effective therapy for severe cases of the disease. That therapy features a miniature, controlled heart attack triggered by an absolute alcohol solution administered to the septal artery that provides blood flow to the thickened heart muscle.

Cardiologists perform the non-invasive therapy using wires and balloons guided to the artery. During the study, 15 patients received the treatment, which contains few complication risks.

Researchers concluded that the disease was in part reversible with alcohol septal ablation due to its ability to improve oxygen delivery to the heart and improve  the heart's use of energy in relation to its ability to pump blood.

Reviewed by: 
Review Date: 
June 9, 2011
Last Updated:
June 12, 2011