Aortic Arch Complex Anomalies: 20-Year Experience with Symptoms,Diagnosis, Associated Cardiac Defects,and Surgical Repair

To better understand the clinical presentation and surgical management of children with aortic arch complex anomalies (``vascular rings'), a retrospective study was performed on patients who presented to Children's National Medical Center between the years 1969 and 1989. A total of 59 patients were identified ranging in age at admission from birth to 14 years, of whom 35 (59%) were male and 24 (41%) female. Patients were classified into four major subtypes based on their surgical anatomy, with 29 (49%) patients having right aortic arch and left ductus/ligamentum arteriosus, 21 (36%) double aortic arch, 6 (10%) anomalous left pulmonary artery, and 3 (5%) arch artery anomaly (no ring); 19 patients (32%) had associated cardiac defects. The mean (±SD) age at onset of symptoms was 4.6 ± 14.0 months, and the age at surgical repair was 18 ± 34 months. There were no intraoperative mortalities, but two late deaths occurred. Three (5%) patients had a surgical complication. In contrast to previous studies, the incidence of nonring lesions was lower and associated cardiac defects higher. Forty-nine percent of patients had symptoms present at birth, and patients with associated cardiac disease did not present earlier than those without. In patients with right aortic arch and left ductus/ligamentum arteriosus, few had an anomalous left subclavian artery. Finally, equal dominance of the arches was most frequent in patients with double aortic arch. Aortic arch complex anomalies present symptomatically in a variety of ways, and noninvasive methods are used to identify the specific lesion and associated cardiac defects. Surgical repair is associated with low or no mortality in patients with uncomplicated aortic arch complex anomalies.     

Persistent Left Fifth Aortic Arch Associated with Tetralogy of Fallot

A case of persistent left fifth aortic arch, forming a congenital ``double-lumen' aortic arch, has been diagnosed on angiocardiography during life. It appeared as an unusual vascular structure running inferiorly and parallel to the ``real' aortic arch from the innominate artery to the left subclavian artery superior to the pulmonary artery. This anomaly was found in the setting of tetralogy of Fallot, an association never described before, with patent ductus arteriosus (previously reported in most cases). The left aortic arch in this case was not a source of pulmonary circulation, as described in previous cases with pulmonary atresia and ventricular septal defect, but was a systemic-to-systemic connection without functional relevance.     

Surgical Treatment of Aortic Root Aneurysm Related to Marfan Syndrome in Early Childhood

The prognosis of Marfan syndrome in both adult and pediatric patients is primarily related to the cardiovascular complications. In infantile Marfan syndrome, although involvement of the mitral valve is the most frequently encountered cardiovascular lesion, the aortic root can be more worrisome because of its excessive dilatation, leading to aortic insufficiency or dissection. If the role of elective surgery is relatively well defined for adult patients, it is still debated during childhood. We report two patients, aged 22 months and 5 years, each presenting an aortic root aneurysm related to Marfan syndrome, and each treated with the Bentall procedure without specific age-related mortality or morbidity. These two patients experienced normal growth and were free of any complication for a follow-up period of 8 and 2 years, respectively. More than an absolute value of the aortic root dimension, it is the conjunction of the rate of progression of the aortic root dilatation, the degree and the duration of the aortic valve regurgitation, and its resulting left ventricular dysfunction that must be taken into consideration in choosing the surgical option.     

Age Dependency of Stiffness of the Abdominal Aorta and the Mechanical Properties of the Aorta in Kawasaki Disease in Children

Measuring aortic distensibility has been shown to be useful in adults as a noninvasive method in the early detection of atherosclerosis. This study had two purposes: to assess the stiffness of the abdominal aorta by using two-dimensional echocardiography (2DE) in healthy neonates, children, and adults and to assess aortic distensibility in children with Kawasaki disease in acute and subacute phases. The study comprised 168 healthy subjects and 40 patients with Kawasaki disease. We recorded systolic (P _s) and diastolic (P _d) blood pressure and measured aortic diameter (D _d) at both minimum diastolic pressure and maximum systolic expansion (D _s) by 2DE. These measurements were used to determine (1) aortic strain (S) = (D _s−D _d)/D _d, (2) pressure strain elastic modulus (E _p) = (P _s−P _d)/S, and (3) normalized E _p (E _p*) =E _p/P _d. Significant correlations were found between S and age, E _p and age, and E _p* and age. In Kawasaki disease, E _p and E _p* showed negative correlations to day after onset. The aorta was less distensible in infants, became soft in 12- to 16-year-olds, and then stiffened with increasing age among normal subjects. In Kawasaki disease, aortic stiffness was high at the acute phase and normal at the subacute phase. These tendencies may be related to the biological characteristics of smooth muscle cells.     

Transcarotid Balloon Valvuloplasty with Continuous Transesophageal Echocardiographic Guidance for Neonatal Critical Aortic Valve Stenosis: An Alternative to Surgical Palliation

Neonatal critical aortic valve stenosis is a life-threatening malformation if untreated. Before the late 1980s, the preferred treatment was surgical valvotomy; however, operative mortality was high. Early reports of transcatheter balloon dilation were encouraging, although femoral artery damage and aortic valve insufficiency were procedural limitations. With new balloon catheter technology, transumbilical, transvenous, and transcarotid approaches have been advocated, although a comparison with recent surgical results has not been performed. We compared all neonates who presented to our institution since 1985 with the diagnosis of critical aortic stenosis. Ten patients underwent surgical transventricular valvotomy and 13 patients underwent balloon valvuloplasty via a right carotid cutdown with continuous transesophageal echocardiographic guidance. Prior to intervention, all patients had either left ventricular dysfunction, an aortic valve gradient >100 mmHg, significant mitral valve insufficiency, and/or ductal dependent systemic blood flow. All patients had successful relief of aortic valve obstruction with normalization of left ventricular function and successful discontinuation of prostaglandin E₁. Use of continuous transesophageal echocardiographic guidance resulted in fluoroscopic exposure of only 12 ± 8 minutes. At the latest follow-up, a similar proportion of patients has required additional aortic valve procedures (38% vs 25%) and overall mortality (20% vs 15%) is similar. In the transcarotid group, 9 of 13 patients (69%) have a normal appearing right carotid artery by Duplex imaging, and no neurologic events have been reported. Balloon aortic valvuloplasty via a right transcarotid approach is safe, simplifies crossing the valve, and is effective for the initial palliation of neonatal critical aortic stenosis. The use of transesophageal echocardiographic guidance reduces fluoroscopy exposure, enables accurate assessment of hemodynamics without catheter manipulation or angiography, and avoids femoral artery injury.     

Vascular Ring Due to Right Aortic Arch with Mirror-Image Branching and Left Ligamentum Arteriosus: Complete Preoperative Diagnosis by Magnetic Resonance Imaging

Magnetic resonance imaging (MRI) has been increasingly employed in the evaluation of aortic arch abnormalities. We present a rare form of vascular ring, that of a right aortic arch with mirror-image branching and left ligamentum arteriosus, which was clearly defined preoperatively by MRI. The patient subsequently underwent successful surgical division of the vascular ring followed by improvement in respiratory symptoms.     

Aortic Arch Anomalies Associated with Chromosome 22q11 Deletion (CATCH 22)

Chromosome 22q11 deletion or CATCH 22 is associated with DiGeorge syndrome, conotruncal anomaly face syndrome, and velocardiofacial syndrome. Associated congenital heart diseases include tetralogy of Fallot, truncus arteriosus, and ventricular septal defect. Associated anomalies of the aortic arch, aortic branches, ductus arteriosus, and pulmonary arteries are more frequent in patients with the deletion than in those without the deletion. Associated anomalies include right aortic arch, cervical aorta, aberrant origin or isolation of the subclavian artery, the absence of the ductus arteriosus, major aortopulmonary collateral arteries, isolation of the left pulmonary artery, and vascular ring formed by the right aortic arch, retroesophageal aortic arch, and left descending aorta.     

Progressive Congenital Valvar Aortic Stenosis During Infancy: Five Cases

We report our experience with asymptomatic valvar aortic stenosis diagnosed during infancy. During the period between November 1, 1986 and October 31, 1992 a total of 13 infants were diagnosed with asymptomatic aortic stenosis, 5 of whom showed rapid progression over the first 2 years of life. Two of these asymptomatic infants had severe aortic stenosis by 2 months of age, requiring intervention. We agree that aortic stenosis is a progressive lesion even in mild cases, but we emphasize the need for close clinical and echocardiographic follow-up of these asymptomatic children during infancy to prevent congestive heart failure and sudden death.     

Situs Inversus Totalis and Corrected Transposition of the Great Arteries {I,D,D} in Association with a Previously Unreported Vascular Ring

A 3-month-old girl with ``noisy breathing' was found to have situs inversus totalis, corrected transposition of the great arteries {I,D,D}, and a vascular ring. The ring was composed of a left aortic arch with normal branching pattern and a right ligamentum arteriosum that extended from a diverticulum off the descending aorta and coursed retroesophageal and to the right to join the pulmonary artery. There was no circumflex component of the aorta or aberrant subclavian artery. The descending aorta was left sided. Compression of the esophagus and trachea was noted on contrast esophagram, magnetic resonance imaging (MRI), and at the time of surgery to divide the vascular ring. In association with her corrected transposition, the patient also was shown to have a mild Ebstein's deformity of the right-sided (systemic) atrioventricular valve and electrocardiographic evidence of Wolfe–Parkinson–White syndrome. The combination of situs inversus totalis, corrected transposition of the great arteries {I,D,D}, and an aortic arch anomaly has not been previously reported. In addition, the aortic arch anomaly suggested by MRI imaging and confirmed at surgery has previously only been postulated to exist but to our knowledge never reported.     

Isolated Innominate Artery in 22q11 Microdeletion

A patient with an isolated left innominate artery (with a right-sided cervical aortic arch) is described. This is the first report of such an anomaly associated with chromosome 22q11 microdeletion. The abnormality represents an interruption in the primitive aortic arch that is atypical for this chromosome deletion.     

Rheumatic Fever in Children: A 15-Year Experience in a Developing Country

Clinical data from 91 patients with rheumatic fever (RF), who were hospitalized at a tertiary hospital in Lebanon between 1980 and 1995, were reviewed retrospectively. Age on hospitalization was 11.1 ± 2.9 years (mean ± SD, range 3–17 years). Nineteen patients were <6 years of age. Manifestations included carditis (93%), arthritis (39%), Sydenham's chorea (2%), erythema marginatum (4%), subcutaneous nodules (1%), fever (62%), arthralgia (55%), and acute congestive heart failure (CHF) on initial presentation (44%). Pericardial effusion occurred in 11%. There was positive family history of RF in 14%. Mitral insufficiency and aortic insufficiency occurred in 67 and 35%, respectively. Both mitral and aortic valves were involved in 30% of cases. Tricuspid insufficiency developed in 3% and pulmonary insufficiency in 1%. Mitral stenosis developed in 19%. Twenty-eight patients underwent surgical intervention: mitral valve repair and commissurotomy in 9/91 (10%), mitral valve replacement in 18/91 (20%), and aortic valve replacement in 9/91 (10%). Overall mortality was 12%: 5 following surgical intervention (3 after mitral valve surgery and 2 after mitral and aortic valve surgery). All patients that died had CHF on initial presentation (p= 0.006). This study includes hospitalized patients with predominant rheumatic heart disease. Initial presentation with CHF is a risk factor for surgical intervention and mortality. A significant high surgical intervention rate is noted that is probably related to the nature of the selected group studied. This study emphasizes the significant morbidity and death in patients with RF and carditis.     

Dissection of an Aneurysmic Ascending Aorta in a Child with Atresia of the Aortic Isthmus

A boy with atresia of the aortic isthmus suffered dissection of the aneurysmatic ascending aorta. It is assumed that he had coarctation as a newborn and survived the subsequently developed atresia because of extensive collateralization.     

Prenatal Diagnosis of Severe Aortic Stenosis

We sought to identify echocardiographic markers that might be useful for managing fetuses with significant aortic stenosis. The study was a retrospective review of fetal echocardiographic studies and postnatal outcomes of all fetuses diagnosed with significant aortic stenosis who did not have a hypoplastic left ventricle on the initial echocardiogram. Where possible, fetal echocardiographic measurements included the aortic, mitral, pulmonary, and tricuspid valve annulus sizes; left ventricular dimensions and volume; septal and left ventricular wall thicknesses; and echocardiographic Doppler interrogation of the left heart and oval fossa. Observations also included an assessment of ascites, pericardial effusion, and endocardial fibroelastosis. Prenatal measurements were compared to postnatal outcomes. Four patients (group 1) had either clinically successful relief of their aortic obstruction (n= 3) or required no intervention (n= 1). Five fetuses evolved to the hypoplastic left heart syndrome (group 2). These infants demonstrated little or no growth in left ventricular, aortic valve, or mitral valve dimensions on serial examination. They also more often exhibited mitral stenosis, severe restriction of interatrial shunting, and early to mid second trimester left ventricular dilatation. Serial measurements of fetal cardiac size and function are helpful for predicting the postnatal outcome of fetuses with aortic stenosis.     

Percutaneous Transluminal Balloon Angioplasty of Abdominal Aortic Coarctation in an Infant

Abdominal aortic coarctation is rare in children. We report successful percutaneous transluminal balloon angioplasty of an abdominal aortic coarctation in an infant who presented with heart failure.     

Double-Lumen Aortic Arch by Persistence of Fifth Aortic Arch: A New Case Associated with Coarctation

A coarctation of aorta with double-lumen aortic arch due to persistence of an embryonic fifth aortic arch was recognized in a 13-day-old girl and successfully repaired using enlargement of the aorta by side-to-side anastomosis of the fourth and fifth aortic arches.     

Congenital Heart Disease Among 815,569 Children Born Between 1980 and 1990 and Their 15-Year Survival: A Prospective Bohemia Survival Study

The objective of this study was to ascertain the prevalence and survival rate of children born with a heart defect. A total of 816,569 children live-born between 1980 and 1990 in Bohemia (52,478 km², population 6.314 million, western Czech Republic) were followed up and those with suspected heart disease referred to a center. Echocardiography was done in all of them. All dead children were autopsied. Congenital heart disease was found in 5030 of 816,569 children (6.16 per 1000 live births). The most frequent conditions were ventricular septal defect (41.59%), atrial septal defect (8.67%), aortic (7.77%) and pulmonary (5.81%) stenoses, transposition of the great arteries (5.39%), coarctation of the aorta (5.29%) and persistent ductus arteriosus (5.07%). The first week was survived by 92.46%, the first month by 89.14%, 6 months by 82.42%, and the first year of life by 80.02%, and 77.11% (95% CI 75.91–78.31%) survived to age 15 years. The best prognosis was found in pulmonary stenosis (15-year survival 95.55%), atrial septal defect (92.04%), persistent ductus arteriosus (90.59%), ventricular septal defect (89.37%) and aortic stenosis (88.39%). The worst results were attained in hypoplastic left heart, truncus arteriosus and pulmonary atresia with intact ventricular septum. In conclusion, the prevalence of congenital heart disease was 6.16 per 1000 live births; 77.11% of patients survived to age 15 years.     

The Range of Normal Values of Cardiovascular Structures in Infants, Children, and Adolescents Measured by Magnetic Resonance Imaging

Magnetic resonance imaging (MRI) is a powerful diagnostic technique and research tool for assessment of congenital heart disease due to its ability to accurately assess anatomy, function, and flow in any orientation in the thorax. However, little data exist on normative reference values for cardiac structures, except in small study populations, and even fewer data exist for pediatric populations. In this review, MRI acquisition and analysis methods for assessment of aortic size, pulmonary artery size, and right and left ventricular function, volume, and mass are presented along with reference data obtained in pediatric populations by MRI. Where MRI data are not available, reference data obtained by echocardiography or angiography are included.     

Carotid Artery Approach to Balloon Aortic Valvuloplasty in Infants with Critical Aortic Valve Stenosis

We compare the clinical efficacy of two approaches for balloon aortic valvuloplasty (BAV) in infants with critical aortic valve stenosis. The approaches were through the carotid artery and the femoral artery. Eight catheterizations for BAV were performed in seven consecutive patients with critical aortic stenosis: four BAVs were approached through the femoral artery and four through the right common carotid artery. We inserted a 5F sheath into the right common carotid artery by a cutdown procedure; after BAV the sheath was removed and the carotid arteriotomy sutured with 7-0 monofilament. Two cases in which the femoral artery approach was used resulted in failure to perform BAV; two cases had complications. All four cases with the carotid artery approach were successful, with no complications; aortography performed 3 months after one balloon valvuloplasty revealed a smooth, unobstructed right carotid artery. Use of the carotid artery approach may reduce serious complications with BAV and offers quicker, easier maneuvering in infants and neonates with critical aortic valve stenosis.     

Elongation of the Aorta and Multiple Cardiovascular Abnormalities Associated with Larsen Syndrome

Larsen syndrome is a genetically heterogeneous group of disorders characterized by multiple joint dislocations and a characteristic face. We describe a girl with the typical features of Larsen syndrome. She also had associated multiple cardiovascular anomalies. The anomalies included elongation of the aorta, bicuspid aortic valve, subaortic stenosis, mitral valve prolapse with mitral regurgitation, atrial septal defect of the secundum type, and a patent ductus arteriosus.