Rare Disease Database

Symptoms of the following disorders can be similar to those of Persistent Truncus Arteriosus. Comparisons may be useful for a differential diagnosis:

Ventricular Septal Defects (Cor Triloculare Biventricularis) are a group common congenital heart defects characterized by the absence of one atrium. Infants with this defect have 2 ventricles and 1 large atrium. Symptoms of Ventricular Septal Defects are similar to Atrioventricular Septal Defect and may include an abnormally rapid rate of breathing (tachypnea), wheezing, rapid heartbeat (tachycardia), and/or an abnormally enlarged liver (hepatomegaly). Ventricular Septal Defects can also cause the excessive accumulation of fluid around the heart, leading to congestive heart failure. (For more information on this disorder, choose “Ventricular Septal Defects” as your search term in the Rare Disease Database.)

Tetralogy of Fallot (Pseudotruncus Arteriosus) is a congenital heart disease. It consists of 4 defects: ventricular septal defect, subpulmonary stenosis, overriding aorta, and right ventricular hypertrophy. The most common symptom is a bluish discoloration to the skin due to the lack of sufficient oxygen to the tissues (cyanosis). This occurs during periods of rest and while crying. Other symptoms may include excessive fatigue, poor feeding, slow weight gain, and/or developmental delays. Exertion may produce potentially life-threatening complications including low levels of oxygen in the blood (hypoxia). (For more information on this disorder, choose “Tetralogy of Fallot” as your search term in the Rare Disease Database.)

Atrial Septal Defects are congenital heart defects characterized by the presence of a small opening between the two atria of the heart. This defect leads to an increase in the workload on the right side of the heart, and excessive blood flow to the lungs. The symptoms, which may become apparent during infancy, childhood, or adulthood, can vary greatly and depend on the severity of the defect. The symptoms tend to be mild at first and may include difficulty breathing (dyspnea), increased susceptibility to respiratory infections, and/or abnormal bluish discoloration of the skin and mucous membranes (cyanosis). Some people with Atrial Septal Defects may be at increased risk for the formation of blood clots that can travel to the major arteries (embolism), blocking blood circulation. (For more information on this disorder, choose “Atrial Septal Defects” as your search term in the Rare Disease Database.)

Cor Triatriatum is an extremely rare congenital heart defect characterized by the presence of an extra chamber above the left atrium of the heart. The pulmonary veins, returning blood from the lungs, drain into this extra “third atrium”. The symptoms of Cor Triatriatum vary greatly and depend on the size of the opening between the chambers. Symptoms may include abnormally rapid breathing (tachypnea), wheezing, coughing, and/or abnormal accumulation of fluid in the lungs (pulmonary congestion). (For more information on this disorder, choose “Cor Triatriatum” as your search term in the Rare Disease Database.)

Cor Triloculare Biatriatum is an extremely rare congenital heart defect characterized by the absence of one ventricle. Infants with this defect have two atria and one large ventricle. The symptoms are similar to those of Atrioventricular Septal Defect and include breathing difficulties (dyspnea), excessive accumulation of fluid in the lungs and around the heart (pulmonary edema), and/or a bluish discoloration of the skin and mucous membranes (cyanosis). Other symptoms may include poor feeding habits, abnormally rapid breathing (tachypnea), and/or an abnormally rapid heartbeat (tachycardia).

Mitral Valve Stenosis is a rare heart defect that may be present at birth (congenital) or acquired. In the congenital form, the symptoms vary greatly and may include coughing, difficulty breathing, heart palpitations, and/or frequent respiratory infections. In acquired Mitral Valve Stenosis, the symptoms may also include weakness, abdominal discomfort, chest pain (angina), and/or periodic loss of consciousness.

The following disorder may be associated with Persistent Truncus Arteriosus. It is not necessary for a differential diagnosis:

DiGeorge Syndrome is a very rare group of congenital abnormalities that are the result of defects during early fetal development. These defects occur in areas known as the 3rd or 4th pharyngeal pouches which later develop into the thymus and parathyroid glands. Children with DiGeorge Syndrome who have a severely underdeveloped thymus gland have a dysfunctional immune system. They typically develop frequent infections from viruses, fungi, and certain bacteria. Common symptoms of this disorder include chronic nasal infections, diarrhea, thrush (oral candidiasis), and pneumonia. Unusual physical characteristics of DiGeorge Syndrome may include Persistent Truncus Arteriosus, wide-set eyes (hypertelorism), a downward slant to the eyes, notched and/or low-set ears, and/or an abnormally small mouth. (For more information on this disorder, choose “DiGeorge” as your search term in the Rare Disease Database.)