Barth syndrome is a rare genetic disorder characterized by an enlarged and weakened heart (dilated cardiomyopathy). This condition occurs almost exclusively in males because it is passed from mother to son through the X chromosome. Symptoms associated with Barth syndrome typically present during early childhood, but on rare occasions will not present until adulthood. Symptoms include weakened heart muscle, dilation of heart’s lower chambers, possible heart failure, shortness of breath and fatigue with exertion. Treatment typically includes genetic counseling, diagnostic tests, drug therapy, surgery and rehabilitation and palliative care.
Organizations exist to provide support, information and resources to people experiencing rare conditions. Information provided in part by our partner NORD.