Cardiopulmonary Syndromes: Conditions With Concomitant Cardiac and Pulmonary Abnormalities
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1 Cardiopulmonary Syndromes: Conditions With Concomitant Cardiac and Pulmonary Abnormalities Carlos S. Restrepo M.D. Professor of Radiology The University of Texas HSC at San Antonio
2 Cardiopulmonary Syndromes Heterotaxia syndrome Primary ciliary diskinesia Ring-sling complex TAPVR PAPVR (Scimitar syndrome (Hypogenetic lung) Interrupted pulmonary artery Pulmonary sequestration Congenital lobar emphysema Tetralogy of Fallot Pentalogy of Cantrell Pulmonary agenesis / hypoplasia VACTERL association Down syndrome (Pulmonary hypoplasia and lung cysts) (NEJM Cooney 1982)
3 PAPVR / Scimitar Syndrome Four features Hypoplasia of right lung with dextroposition of the heart Hypoplastic right pulmonary artery Anomalous arterial supply to right lower lobe from aorta Anomalous pulmonary venous connection to inferior vena cava
4 Scimitar Syndrome >75% have congenital heart disease - ASD (secundum type) in 65% - VSD in 16% - PDA in 9% 28% complex congenital heart disease - TOF - Hypoplastic left heart syndrome - TAPVR Vida VL, et al. Circulation 2010;122:1159
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6 IVC I V C PAPVR associated with diaphragmatic hernia. Contrast enhanced CT shows the anomalous vein (small arrow) and the liver herniated into the right hemithorax (large arrow).
7 b. d. Scimitar syndrome associated with pulmonary sequestration. Chest x-ray shows a round mass in the right upper quadrant (black arrows).venous phase catheter angiography shows the anomalous vein (white arrow).
8 PAPVR + Sinus Venosus ASD + PLSVC
9 PAPVR Extracardiac Associated Anomalies 25% are associated with other congenital abnormalities: - Aortic coarctation (20%) - ASD - VSD - Tetralogy of Fallot - Diaphragmatic hernia - Diaphragmatic duplication
10 IVC Inferior Vena cava PAPVR associated with diaphragmatic hernia. Contrast enhanced CT shows the anomalous vein (small arrow) and the liver herniated into the right hemithorax (large arrow).
11 Primary Ciliary Diskinesia Recessive genetic disorder characterized by sinopulmonary disease 2ary to abnormal ciliary structure and function Prevalence of congenital heart disease in PCD with heterotaxy is 200-fold higher Situs inversus totalis occur in 48% (Kartagener s syndrome) Situs solitus in 46% Situs ambiguus in 6% (Heterotaxy) - most have CV abnormalities Kennedy MP et al. Circulation 2007;115: 2814
12 Kartagener s Syndrome Primary Ciliary Dyskinesia (PCD) was previously referred to as immotile cilia syndrome until it was discovered that most of the cilia moved but are dysfunctional. PCD is also referred to as Kartagener s Syndrome if situs inversus is present. About half of patients with respiratory ciliary disease have situs inversus. PCD follows an autosomal recessive mode of inheritance.
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14 Heterotaxia Syndrome (situs ambiguus) Right isomerism Ivemark syndrome Asplenia syndrome Both lungs have 3 lobes Eparterial bronchi CHD in 100% M >F Left isomerism Polysplenia syndrome Both lungs have 2 lobes Hyparterial bronchi CHD in 70% Azygos continuation 80% F>M
15 Bronchial Isomerism Right isomerism Left isomerism
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18 Right bronchial isomerism Three lobes in the bilateral lungs
19 Congenital interruption of the PA Congenital absence of the PA Term interruption is preferred Only the mediastinal segmen of the right or left PA is absent Interrupted artery is in the opposite side of the aortic arch May be seen associated with CHD (ASD, VSD, TA and TOF) Restrepo CS et al. Anomalies and malformations of the pulmonary circulation. Multidetector-row CT of the Thorax. Springer 2016
20 Congenital interruption of the PA Right pulmonary artery more commonly affected than the left May be associated with hypogenetic lung Systemic collateral circulation from bronchial arteries Women are affected more than men Cystic changes in the ipsilateral lung demonstrated in HRCT Ryu DS, et al. J Thorac Imaging 2004;19(3):171
21 Fem 22 y/o.
22 LUNG CYSTS IN DOWN SYNDROME Multiple small cystic dilatations of the alveoli aligned along the subpleural surface or diffuse in advanced cases. Pathophysiology is not clear. Frequently associated with congenital heart disease. Might contribute to the development of pulmonary hypertension. Joshi et al. Pediatr Pathol 1986; 5:79 Gonzalez et al. Pediatr Pathol 1991; 11:623 Gyves-Ray et al. Pediatr Radiol 1994; 24:137 Tyrrel et al. Pediatr Pulmonol1999; 28:145
23 2 y/o Male Down syndrome
24 Aberrant Left Pulmonary Artery Pulmonary sling Failure of development / obliteration of left 6 th aortic arch. Development of a collateral branch of right pulmonary artery to supply the left lung. LPA passes above right mainstem bronchus and between trachea and esophagus.
25 Aberrant Left Pulmonary Artery Associated with Napkin-ring trachea (absent pars membranacea) 50% carrot-shaped trachea (long segment tracheal narrowing) Obstructive emphysema PDA (most common) ASD, persistent LSVC
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28 Branch PA Stenosis Commonly associated with CHD -TOF, TGA, ASD, VSD Also associate with Noonan syndrome and Williams syndrome Maternal rubella syndrome Ehler-Danlos syndrome Cutis laxa syndrome Alagille s syndrome
29 Branch PA Stenosis (TOF)
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