In tune with the rapidly evolving subspecialty of cardiogenetics through which cardiac specialists can identify the genetic basis for many heart problems, the Hadassah Medical Organization’s Irma and Paul Milstein Heart Center has opened Israel’s first Center for Cardiogenetics.
Advances in genome sequencing and molecular biology have enabled physicians to determine the genetic basis of cardiomyopathies (diseases of the heart muscle), channelopathies (genetic abnormalities in heart cell proteins that control heart electrical activity and thus can cause heart rhythm disturbances, known as arrhythmias), lipid disorders, and vascular diseases. In addition, genetic diagnosis is now more accessible, and the findings can be interpreted in a clinically meaningful way.
Consequently, genetic testing is becoming an integral part of the diagnosis and treatment of hereditary heart disease. Many of those inherited diseases are caused by disorders in a single gene, and most of those genes are dominant. That means first-degree relatives of a patient have a 50 percent risk of carrying a genetic modification that puts them at higher risk to develop the same condition as the primary patient. Thus, there is an increasing tendency to use a patient’s genetic information to decide on treatment, as well as to identify relatives who may benefit from early intervention programs that can prevent premature morbidity and mortality. At times, the genetic information can lead to life-saving interventions, including implantation of defibrillators, or specialized, genotype-specific pharmacologic therapy.
Hadassah’s cardiogenetics center brings together cardiologists, geneticists, genetic counselors, cardiothoracic surgeons, vascular specialists, neurologists, researchers, and support staff to provide comprehensive evaluation and treatment. The Center team has expertise in diseases of the heart muscle, molecular abnormalities associated with dangerous arrhythmias, diseases of the aorta and connective tissue, heart conditions that affect both the heart and the neurologic systems, abnormal lipid metabolism, and congenital diseases of the heart.
Hadassah’s Center for Cardiogenetics operates like a one-stop shop. In a single visit, the Center team coordinates all necessary initial intervention (cardio-evaluation, genetic counseling, and genetic testing). At times, genetic results are not clear cut. They require professional integration with clinical findings, including those obtained from physical examination, imaging, and functional assessment, along with reviews of the scientific literature.
The Center for Cardiogenetics places Hadassah at the forefront of the diagnosis and treatment of genetic diseases of the cardiovascular system in Israel and the Middle East. “We look forward to using our expertise,” the Center team relates, “to identify new genetic abnormalities, elucidate heretofore undescribed mechanisms of disease, develop personalized treatments, and, ultimately, prevent the development of heart disease.”