Genetic testing for cardiomyopathy genes establishes a molecular diagnosis in some patients post heart transplantation (HTx). This highlights the need for genetic testing in this population that has already undergone HTx, as it is often overlooked.
A heart transplant, also known as a cardiac transplant, is performed on patients who have end-stage heart failure or severe coronary artery disease and have failed all other medical or surgical treatments. The most common cause for a heart transplant is cardiomyopathy, disease of the heart muscle which makes it stiff, thick, enlarge and cause a scar tissue.
In the last decade, a genetic cause is identified in a growing number of cardiomyopathies and a set of genes have been found to be associated with cardiomyopathy. Genetic variants such as TNN gene and MYBPC3 gene are found to be the common cause of familial dilated cardiomyopathy and familial hypertrophic cardiomyopathy.
If a pathogenic variant is identified in the patient, the family members should follow-up for further evaluations. Identification of individuals carrying the causative genes who do not have any symptoms, helps with early diagnosis and treatment, resulting in a decrease in morbidity and mortality.
Genetic testing is strongly advised in patients undergoing HTx, regardless of family history or secondary precipitating factors, because it may identify relatives at risk.
Boen HM, Loeys BL, Alaerts M, et. al. Diagnostic yield of genetic testing in heart transplant recipients with prior cardiomyopathy. J Heart Lung Transplant. 2022 Sep. doi: 10.1016/j.healun.2022.03.020.