Heterotaxy Syndrome Defined
Heterotaxy results from failure of the developing embryo to establish normal left-right asymmetry. Typical manifestations include abnormal symmetry and malposition of the thoraco-abdominal organs and vessels, complex congenital heart disease and extracardiac defects involving midline-associated structures. The spleen is almost always affected, and there is syndromic clustering of the malformations corresponding to the type of splenic abnormality present. This review outlines the embryologic and genetic background of the heterotaxy syndrome as well as the characteristic anatomic features, clinical manifestations, and diagnostic clues of its two main presentations with asplenia or polysplenia.
Heterotaxy Syndrome for RileyRiley's Heart - Why is Riley's heart different? He has one functioning ventricle a normal heart has a right and left ventricle. Riley has multiple issues with his heart.
Riley has a Single Functioning Ventricle, the term "single ventricle anomaly" is purposely non-specific. It is used to describe a group of cardiac defects that may differ quite dramatically from each other but share the common feature that only one of the two ventricles is of adequate functional size. Because of this feature, the ultimate plan for reconstruction is actually quite similar for most of these anomalies. All will generally undergo staged reconstructive procedures ultimately resulting in a "Fontan circulation."
He has Pulmonary Atresia, with this condition, the pulmonary valve, between the right ventricle and pulmonary artery, is not formed completely. “Atresia” refers to a missing heart structure. The valve cannot open properly, which means the blood can’t move from the right ventricle to the lungs. If the constriction occurs right at the valve it is called pulmonary valvular atresia. Often this defect occurs with other heart defects, including ventricular septal defect. Pulmonary atresia occurs in about one baby per 14,000 births, and is the tenth most common type of heart disease in newborns.
Riley also has Total Anomalous Pulmonary Venous Return which is a congenital heart disease (present at birth) in which none of the four veins that take blood from the lungs to the heart is attached to the left atrium (left upper chamber of the heart).
Riley's Abdomen - Riley has abdominal situs which means that his abdomen is reversed. A person can live with abdominal situs. The question is, at 11 weeks gestation, did Riley's intestines "coil" they way they are suppose to? We will not know for sure until he is born. So, if his intestines did not coil, causing malrotation, once stabilized from his first heart surgery, he will undergo abdominal surgery to correct this problem.
Riley's Lung - He has a CCam on his lung. A CCam is a cystic adenomatoid malformation of the lung which is a developmental abnormality of the lung characterized by a cystic mass of disordered pulmonary parenchyma with porliferation of terminal respiratory bronchioles and a lack of normal alveoli. The initial size of the CCam was .3 mm. CCams usually become a issue around 1.4 to 1.6 mm. CCams tend to stop growing around 25 weeks gestation. The CCam is also causing a Pericardial Effusion which is fluid around his heart. Riley's CCam and the fluid around his heart will be closely monitored until he is born. The CCam as long as it does not increase in size it will not require a separate procedure and will be removed during one of his other surgeries.
© Copyright 2008-2014
Heterotaxy results from failure of the developing embryo to establish normal left-right asymmetry. Typical manifestations include abnormal symmetry and malposition of the thoraco-abdominal organs and vessels, complex congenital heart disease and extracardiac defects involving midline-associated structures. The spleen is almost always affected, and there is syndromic clustering of the malformations corresponding to the type of splenic abnormality present. This review outlines the embryologic and genetic background of the heterotaxy syndrome as well as the characteristic anatomic features, clinical manifestations, and diagnostic clues of its two main presentations with asplenia or polysplenia.
Heterotaxy Syndrome for RileyRiley's Heart - Why is Riley's heart different? He has one functioning ventricle a normal heart has a right and left ventricle. Riley has multiple issues with his heart.
Riley has a Single Functioning Ventricle, the term "single ventricle anomaly" is purposely non-specific. It is used to describe a group of cardiac defects that may differ quite dramatically from each other but share the common feature that only one of the two ventricles is of adequate functional size. Because of this feature, the ultimate plan for reconstruction is actually quite similar for most of these anomalies. All will generally undergo staged reconstructive procedures ultimately resulting in a "Fontan circulation."
He has Pulmonary Atresia, with this condition, the pulmonary valve, between the right ventricle and pulmonary artery, is not formed completely. “Atresia” refers to a missing heart structure. The valve cannot open properly, which means the blood can’t move from the right ventricle to the lungs. If the constriction occurs right at the valve it is called pulmonary valvular atresia. Often this defect occurs with other heart defects, including ventricular septal defect. Pulmonary atresia occurs in about one baby per 14,000 births, and is the tenth most common type of heart disease in newborns.
Riley also has Total Anomalous Pulmonary Venous Return which is a congenital heart disease (present at birth) in which none of the four veins that take blood from the lungs to the heart is attached to the left atrium (left upper chamber of the heart).
Riley's Abdomen - Riley has abdominal situs which means that his abdomen is reversed. A person can live with abdominal situs. The question is, at 11 weeks gestation, did Riley's intestines "coil" they way they are suppose to? We will not know for sure until he is born. So, if his intestines did not coil, causing malrotation, once stabilized from his first heart surgery, he will undergo abdominal surgery to correct this problem.
Riley's Lung - He has a CCam on his lung. A CCam is a cystic adenomatoid malformation of the lung which is a developmental abnormality of the lung characterized by a cystic mass of disordered pulmonary parenchyma with porliferation of terminal respiratory bronchioles and a lack of normal alveoli. The initial size of the CCam was .3 mm. CCams usually become a issue around 1.4 to 1.6 mm. CCams tend to stop growing around 25 weeks gestation. The CCam is also causing a Pericardial Effusion which is fluid around his heart. Riley's CCam and the fluid around his heart will be closely monitored until he is born. The CCam as long as it does not increase in size it will not require a separate procedure and will be removed during one of his other surgeries.
© Copyright 2008-2014
