CT of cardiac and extracardiac vascular anomalies: embryological implications

Background Congenital heart disease (CHD) is the most common neonatal anomaly. Extracardiac findings are commonly associated with CHD. It is mandatory to evaluate extracardiac structures for potential associated abnormalities that might impact the surgical planning for these patients. The purpose of this study was to determine the extracardiac abnormalities that could associate cardiac anomalies and to give insights into their embryological aberrations. Results Thirty-two pediatric patients (22 males and 10 females) underwent CT angiography to assess CHD. Diagnosis of the CHD and associated extracardiac findings were recorded and tabulated by organ system and type of CHD. Retrospective ECG-gated low-peak kilovoltage (80Kvp) technique was used on 128MDCT GE machine. Patients were diagnosed according to their CHD into four groups: chamber anomalies 90%, septal anomalies 81.3%, conotruncal anomalies 59.4%, and valvular anomalies 59.4%. Extracardiac findings were found in 28 patients (87.5%) with a total of 76 findings. Vascular findings were the most prevalent as 50 vascular findings were observed in 28 patients. Aortic anomalies were the commonest vascular anomalies. Fourteen thoracic findings were observed in 12 patients; of them lung consolidation patches were the most common and 12 abdominal findings were found in seven patients, most of findings were related to situs abnormalities. Conclusion Extracardiac abnormalities especially vascular anomalies are commonly associating CHD. Along with genetic basis, aberrations in dynamics of blood flow could represent possible causes of this association.

Dextrocardia with Situs Inversus in an 18-Year-Old Nigerian Female: The Computed Tomographic Findings and a Case Report

Dextrocardia is a cardiac positional anomaly in which the heart is located in the right hemithorax with its base to apex axis directed to the right and caudad. The malposition is intrinsic to the heart and not caused by extracardiac abnormalities. Dextrocardia is a rare condition and usually found incidentally and in association with other congenital abnormalities. It has an incidence of less than 1%. This is an 18 year old Nigerian female who was referred for computed tomography (CT) of the chest on account of prolonged and recurrent cough with a suspicion of diffuse interstitial lung disease. The chest and upper abdominal CT scan showed dextrocardia with a right placed heart, displaced spleen and stomach to the right hemi-abdomen and liver displaced to the left hemi-abdomen; confirming the diagnosis of dextrocardia with situs inversus. We present this case of dextrocardia with abdominal situs inversus due to its rarity in literature.

Extracardiac Abnormalities of Preload Reserve

While many of the cardiac limitations to exercise performance are now well-characterized, extracardiac limitations to exercise performance have been less well recognized but are nevertheless important. We propose that abnormalities of cardiac preload reserve represents an under-recognized but common cause of exercise limitations. We further propose that mechanistic links exist between conditions as seemingly disparate as heart failure with preserved ejection fraction, nonalcoholic fatty liver disease, and pelvic venous compression/obstruction syndromes (eg, May-Thurner). We conclude that extracardiac abnormalities of preload reserve serve as a major pathophysiologic mechanism underlying these and other disease states.

Ductus venosus agenesis and fetal malformations: what can we expect? – a systematic review of the literature

Background The ductus venosus agenesis (DVA) is a rare condition with a variable prognosis that relies partly on the presence of associated conditions. The purpose of our study was to analyze the literature regarding the post-natal outcome of fetuses with DVA associated with fetal malformations, in order to discuss the best management options for couples. Methods We performed a systematic review of the literature of MEDLINE and SCOPUS electronic databases in a 25-year period from 1992 to September 2017. Methods We found 340 cases of DVA associated with fetal abnormalities. The most common chromosomal abnormalities were: monosomy X (12/48, 25%), trisomy 21 (11/48, 22.9%) and trisomy 18 (6/48, 12.5%). From the 340 cases with DVA, in 31 cases the umbilical venous shunt type was not reported. Of the fetuses, 60.8% (188/309) had an extrahepatic umbilical venous drainage while 39.2% (121/309) presented an intrahepatic connection. The DVA was associated in 71 cases (23.0%) with cardiac abnormalities, in 82 cases (26.5%) with extracardiac abnormalities and in 85 cases (27.5%) with both cardiac and extracardiac abnormalities. Conclusion DVA associated with both cardiac and extracardiac malformations may confer a poorer fetal outcome, a clinically relevant fact that should clarify what can be expected from this entity and help prenatal counseling.

Epidemiology and incidence

Congenital heart disease is present in up to 8:1000 live births (excluding ‘common’ lesions such as bicuspid aortic valve, which are often diagnosed later). This incidence may be falling in Western countries, which has important implications for healthcare planning. Congenital heart disease often occurs with extracardiac abnormalities such as neurodevelopmental delay and this has an impact on survival. Some occur in recognized syndromes, with identified genetic abnormalities, and more are likely to be described. With improved care, most patients now survive into adulthood and require not only ongoing surveillance, but often medical and surgical intervention as adults.