Barth Syndrome / LIC (Lethal Infantile Cardiomyopathy) is a serious X-linked genetic disorder, primarily affecting males and resulting in an inborn error of lipid or fat metabolism and multisystem symptoms. Diagnostic testing includes DNA sequence analysis (genetic testing) of the tafazzin gene (TAZ, also called G4.5) and cardiolipin analysis of various cells and tissues, Though not always present, cardinal characteristics of this multi-system disorder often include combinations and varying degrees of: cardiomyopathy, neutropenia (Chronic, cyclic, or intermittent), underdeveloped skeletal musculature and muscle weakness, growth delay, exercise intolerance, cardiolipin abnormalities, and 3-methylglutaconic aciduria. Significant clinical problems may include congestive heart failure, life-threatening bacterial infections, gross motor delay, risk of fatal arrhythmias, short stature through pre-teen years, followed by accelerated growth in mid- to late puberty, extreme fatigue, diarrhea and/or constipation. recurrent mouth ulcers, feeding problems (e.g., difficulty sucking, swallowing, or chewing; aversion to some food textures; selective or picky eating), risk of thrombosis, diminished capacity for exercise, hypoglycemia, including fasting hypoglycemia (especially in the newborn period), chronic headache, abdominal pain, and/or body aches (especially during puberty), osteoporosis, as well as some mild learning disabilities.
Treatment of Barth syndrome is generally symptomatic, requiring the coordinated efforts of a team of medical professionals which includes a pediatrician, pediatric cardiologist, hematologist, specialist in the treatment of bacterial infections, physical therapist, occupational therapist, and/or other healthcare professionals. Many infants and children require therapy with diuretic and digitalis medications to treat heart failure. Some affected children are gradually removed from such cardiac therapy during later childhood due to improvement of heart functioning. For affected individuals with confirmed neutropenia, complications due to bacterial infection are often preventable by ongoing monitoring and early therapy of suspected infections with antibiotics. Other treatment for this disorder is typically symptomatic and supportive.