Thrombocytopenia absent radius syndrome with Tetralogy of Fallot: a rare association

Abstract

Thrombocytopenia absent radius (TAR) syndrome is a very rare and infrequently seen congenital disorder with an approximate frequency of 0.42/100,000 live births. It is associated with bilateral absence of radii, hypo-megakaryocytic thrombocytopenia, and presence of both thumbs. The other systems which are affected by TAR syndrome include skeletal, hematologic, and cardiac systems. Intracranial hemorrhages due to thrombocytopenia and cardiac disorders are a common association usually seen with this syndrome and are usual cause of death. We describe a 3-month-old infant who was diagnosed with TAR syndrome on the basis of clinical features (thrombocytopenia and bilateral absent radius bone and confirmed by genetic analysis). The patient was diagnosed to have Tetralogy of Fallot, for which the infant was managed with definitive repair and thrombocytopenia was managed with platelet transfusion. Infants with TAR syndrome should be assessed for other associated malformations of various systems and followed up regularly and parents should be counseled for associated expected complications in these patients. We report an infant with TAR syndrome with Tetralogy of Fallot, which has not been reported in medical literature until now and this is the first case of its type.

Thrombocytopenia with absent radii syndrome with delayed presentation of thrombocytopenic episodes: a case report

“…TAR syndrome has been known to be associated with multiple nonskeletal abnormalities include cardiac defects )atrial septal defect and VSD) (15%); our patient’s cardiovascular system does not show any abnormalities, gastroenteritis and cow’s milk intolerance (47%), renal malformations (23%), short stature (95%), and hematologic anomalies 7 . Despite these anomalies, thrombocytopenia remains the main cause of death, particularly during the first two years of life, presenting with intracranial hemorrhages 7 .…”

“…The incidence of TAR syndrome in medical literature has been reported to be around 0.42/100 000 live births 7 , it is not related to sex. The sex ratio of diagnosed cases was 1:1 6 .…”

Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: a new familial case

“…A number of patients with TAR syndrome were reported, but in almost all these cases the precise coordinates of the deleted regions were not available and in others no mutation analysis of RBM8A SNP had been performed [ 18 – 27 ].…”

Thrombocytopenia Absent Radius (TAR)-Syndrome: From Current Genetics to Patient Self-Empowerment

“…Furthermore, tetralogy of Fallot has been reported. 48 Association of TAR syndrome with different congenital anomalies, such as micrognathia, cleft palate, intracranial vascular malformation, and facial capillary hemangioma in the glabellar region, epilepsy, or scoliosis is rare. 49 Cow's milk intolerance is reported in older literature with a frequency around 60%.…”