Tricuspid atresia overview
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor-In-Chief: Sara Zand, M.D.[2]Keri Shafer, M.D. [3] Priyamvada Singh, MBBS [4]; Assistant Editor-In-Chief: Kristin Feeney, B.S. [5]
Overview
Tricuspid atresia is the fourth most common cyanotic congenital heart disease after tetralogy of Fallot, transposition of the great arteries (TGA), and hypoplastic left heart syndrome, whether the nonoxygenated blood can not flow from right atrium to right ventricle due to nondevelopment or total agenesia of the tricuspid valve. The right ventricle is small and the pulmonary artery in some cases is hypoplastic. Atrial septal defect (ASD) or patent foramen oval (PFO) is necessary for passing the blood from the right atrium to the left system and without them the infants will not survive. The majority of infants die without palliative surgery. Tricuspid atresia was first discovered by Friedrich Ludwig kreysig in 1817, a German physician who found the obstruction between the right atrium and right ventricle in the autopsy of cyanotic infants.The classic term of tricuspid atresia was used firstly by schuberg in 1861. Tricuspid atresia occurs during prenatal development. In tricuspid atresia, there is no continuity between the right atrium and right ventricle. Inferior vena cava and superior vena cava collect venous nonoxygenated blood into the right atrium. Through atrial septal defect (ASD), blood come into the left atrium, then left ventricle andaorta.This blood is a mixture of saturated and unsaturated O2. If there is a ventricular septal defect (VSD), this mixed blood in the left ventricle flows into the right ventricle, then via pulmonary artery reaches pulmonary bed and becomes oxygenated, then returns back into the left atrium via pulmonary veins. In diminished pulmonary blood flow whether the flow is dependent on patent ductus arteriosus (PDA), the mixed-blood in aorta flows from this passage intopulmonary artery and pulmonary bed. In the presence of normal positioning of great arteries, cyanosis is more prominent and is affected by the size of VSD. Transposition of the great arteries (TGA) and subaortic stenosis are other associated anomalies. Some Genes mutation in tricuspid valvopathy includes : missense mutation in RASA1 that regulates Ras/ERK cascade, a missense mutation in NFATC1 that downregulates the Ras/ERK pathway. Familial recurrence of tricuspid atresia is rare. Few cases of an autosomal recessive pattern of inheritance are reported.Patients with tricuspid atresia should be differentiated from other cardiac causes of cyanosis and lung olygemia include: Tetralogy of Fallot, Total anomalous pulmonary venous connection, Pulmonary atresia, Tricuspid stenosis. Worldwide, the prevalence of tricuspid atresia is 7.8 per 100,000 persons. Tricuspid atresia is a congenital heart disease observed among infants at the time of birth. Tricuspid atresia affects males and females equally. There is no racial predilection for tricuspid atresia. Common risk factors related to tricuspid atresia include: chromosomal abnormality, taking teratogenic medications by mother during pregnancy such asphenytoin,retinoic acid, smoking, alcohol consumption during pregnancy, Mother comorbidities such as diabetes mellitus, hypertension, obesity, phenylketonuria, thyroid disease, epilepsy, connective tissue disorders, Infections during pregnancy such as rubella,cytomegalovirus, Coxsackie, herpes virus 6, toxoplasmosis gondi, parvovirus B19, HIV,influenza. Early clinical features in infants include cyanosis of lips and tongue, difficulty in breathing, tiring easily during feeding. The severity of cyanosis in infants with pulmonary stenosis is dependent on the amount of pulmonary blood flow passing through patent ductus arteriosus. After physiologic closure of patent ductus arteriosus (PDA), the cyanosis will be aggravated. In patients with normal pulmonary blood flow, complications of heart failure may occur. Prognosis is generally poor without surgery and 90% of patients will die before 10 years old. Symptoms of tricuspid atresia in neonates may include: central cyanosis in mucous membranes and tongue, poor feeding and growth retardation, difficulty in breathing, rapidheartbeats, rapid breathing.Symptoms of longstanding cyanosis and hyperviscosity syndrome as a result of secondary erythrocytosis in older children include the following: headache, alter mentation, faintness, dizziness, visual disturbances, paresthesia, tinnitus, myalgia.
Historical Perspective
Tricuspid atresia was first discovered by Friedrich Ludwig kreysig in 1817, a German physician who found the obstruction between the right atrium and right ventricle in the autopsy of cyanotic infants. The classic term of tricuspid atresia was used firstly by schuberg in 1861.
Classification
Pathophysiology
Tricuspid atresia occurs during prenatal development. In tricuspid atresia, there is no continuity between the right atrium and right ventricle. Inferior vena cava and superior vena cava collect venous nonoxygenated blood into the right atrium. Through atrial septal defect (ASD), blood come into the left atrium, then left ventricle andaorta.This blood is a mixture of saturated and unsaturated O2. If there is a ventricular septal defect (VSD), this mixed blood in the left ventricle flows into the right ventricle, then via pulmonary artery reaches pulmonary bed and becomes oxygenated, then returns back into the left atrium viapulmonary veins. In diminished pulmonary blood flow whether the flow is dependent on patent ductus arteriosus (PDA), the mixed-blood in aorta flows from this passage into pulmonary artery and pulmonary bed. In the presence of normal positioning of great arteries, cyanosis is more prominent and is affected by the size of VSD. Transpositioning great arteries (TGA) and subaortic stenosis are other associated anomalies.
Causes
Some Genes mutation in tricuspid valvopathy includes : missense mutation in RASA1 that regulates Ras/ERK cascade, a missense mutation in NFATC1 that downregulates the Ras/ERK pathway. Familial recurrence of tricuspid atresia is rare. Few cases of an autosomal recessive pattern of inheritance are reported.
Differentiating tricuspid atresia from Other Diseases
Patients with tricuspid atresia should be differentiated from other cardiac causes of cyanosis and lung olygemia include: Tetralogy of Fallot, Total anomalous pulmonary venous connection, Pulmonary atresia, Tricuspid stenosis.
Epidemiology and Demographics
Worldwide, the prevalence of tricuspid atresia is 7.8 per 100,000 persons. Tricuspid atresia is a congenital heart disease observed among infants at the time of birth. Tricuspid atresia affects males and females equally. There is no racial predilection for tricuspid atresia.
Risk Factors
Common risk factors related to tricuspid atresia include: chromosomal abnormality, taking teratogenic medications by mother during pregnancy such asphenytoin,retinoic acid, smoking, alcohol consumption during pregnancy, Mother comorbidities such as diabetes mellitus, hypertension, obesity, phenylketonuria, thyroid disease, epilepsy, connective tissue disorders, Infections during pregnancy such as rubella,cytomegalovirus, Coxsackie, herpes virus 6, toxoplasmosis gondi, parvovirus B19, HIV,influenza.
Screening
Natural History, Complications, and Prognosis
Early clinical features in infants include cyanosis of lips and tongue, difficulty in breathing, tiring easily during feeding. The severity of cyanosis in infants with pulmonary stenosis is dependent on the amount of pulmonary blood flow passing through patent ductus arteriosus. After physiologic closure of patent ductus arteriosus (PDA), the cyanosis will be aggravated. In patients with normal pulmonary blood flow, complications of heart failure may occur. Prognosis is generally poor without surgery and 90% of patients will die before 10 years old.
Diagnosis
Diagnostic Study of Choice
History and Symptoms
Symptoms of tricuspid atresia in neonates may include: central cyanosis in mucous membranes and tongue, poor feeding and growth retardation, difficulty in breathing, rapidheartbeats, rapid breathing.Symptoms of longstanding cyanosis and hyperviscosity syndrome as a result of secondary erythrocytosis in older children include the following: headache, alter mentation, faintness, dizziness, visual disturbances, paresthesia, tinnitus, myalgia.