Anna Sabaté-Rotés

Stenting Coarctation of the “Fifth Aortic Arch”: A Safe and Attractive Therapeutic Alternative to Surgery

“Persistence of the fifth aortic arch” is a rare congenital cardiovascular anomaly that consists of an abnormal vessel arising from the distal ascending aorta connecting with the systemic or pulmonary circulation. We report a case of a type A interruption of the aortic arch and a coarctation of the fifth aortic arch, which connected the ascending with the descending aorta. No cardiac surgery was required because a covered stent was successfully implanted in the fifth aortic arch when the patient was 4 years old. A chromosome 9 q arm duplication of uncertain significance was also found, an anomaly never described before in this clinical context.

The Chiari Network—Only an Embryonic Remnant or a Confusing Finding?

Chiari network is an embryonic remnant of valves of the sinus venosus, which can be observed in several locations in the right atrium. Although it is usually considered a normal anatomic variant, when associated with certain clinical conditions, the Chiari network may become a confusing finding, and a careful differential diagnosis is required. It should be differentiated from a tricuspid valve disruption, vegetation, thrombus, or tumoral mass. In this case report, we describe a singular case of endocarditis over a Chiari network in a seven-year-old boy that was successfully managed in a conservative fashion.

Marfan Syndrome and Loeys-Dietz Syndrome in Children: A Multidisciplinary Team Experience

The main cause of morbidity and mortality in Marfan syndrome (MS) and Loeys-Dietz syndrome (LDS) is progressive aortic root dilatation. Family study is crucial for both early diagnosis and genetic assessment: relatives should be seen by a specialized multidisciplinary team. We present our experience with the treatment and follow-up of pediatric patients with a diagnosis of MS or LDS. From 2005 to 2016, we followed up 64 pediatric patients in pediatric cardiology: 52 (81%) with classic MS, 2 (3%) with neonatal MS, and 10 (16%) with LDS. Coordinated care involving geneticists, adult cardiologists, ophthalmologists, orthopedic surgeons, and rehabilitation medicine specialists is essential for the comprehensive care of these families. Fifty-two patients met the criteria for classic MS according to the Ghent criteria. Half of these patients (55.8%, 29/52) were investigated due to a known family history, including intrauterine history. The other half (44.2%, 23/52) were diagnosed due to their peculiar phenotype. Of these, 12 (18.8%) were de novo cases with negative genetic studies in both parents; 10 (15.6%) were index cases leading to a diagnosis in another relative. One patient was adopted and therefore the family history was unknown. In summary, 75% had an affected relative, data that coincide with the literature. Most of the patients had confirmed FBN1 mutations (80.8%) or a study in-progress (n = 2). Seven patients did not undergo genetic testing because they met clinical and family history criteria. Sixty-seven percent of the patients had dilatation of the sinuses of Valsalva (SV) (Table). This finding agrees with the data in the literature, which describes progressive dilatation in 50% to 83% of

Caracterización y factores de riesgo de dilatación aórtica en pacientes pediátricos con válvula aórtica bicúspide

INTRODUCTION AND OBJECTIVES Dilatation of the ascending aorta associated with bicuspid aortic valve is a major cause of morbidity and mortality in adults. The main objective was to recognize the aortic involvement in children, its characteristics and risk factors. METHODS Aortic measures of all pediatric patients with bicuspid aortic valve followed in a tertiary pediatric hospital between 1997 and 2015 were retrospectively taken. Patients with syndromes associated with aortic dilatation were excluded (n=17). RESULTS Two hundred and six patients were included, 67.9% males. The commonest opening pattern was horizontal: 137 (66.7%). Half of the patients (101) had a history of surgical aortic coarctation, 46 (22.3%) had≥moderate aortic valve stenosis and 13 (6%) had≥moderate aortic insufficiency. Mean follow-up time was 6.1 (4.9) years; diagnosis of aortic dilatation was made during the first year of follow-up. Progression of the dilatation of the ascending aorta was noted in 17.1%, and of the aortic root in 2.5%. More than one-third (80/206) had aortic dilatation (z-score>2). The ascending aorta was exclusively affected in 70/80 patients, with sparing of the aortic root. In the multivariate analysis, patients with dilatation of the ascending aorta were associated with absence of coarctation (P=.001) and vertical opening pattern (P=.007). CONCLUSIONS Pediatric patients with bicuspid aortic valve warrant medical follow-up for the frequent association with valve impairment and/or dilatation of the ascending aorta.

Persistent Left Superior Vena Cava With Absent Right Superior Vena Cava

Persistent left superior vena cava is the most common variant of systemic venous drainage, with an incidence of 0.3% to 0.5% in the general population and of 3% to 10% in patients with congenital heart disease. This anomaly arises when obliteration of the left anterior cardinal vein, which drains into the right atrium via the coronary sinus, fails to occur. Dilation of the coronary sinus constitutes the main echocardiographic sign leading to suspicion of its presence. It is usually an incidental finding and, in recent years, is frequently diagnosed during the prenatal period. It is generally an isolated entity, but there have been reports of a higher incidence of associated cardiac and extracardiac anomalies, while its presence is related to the development of obstructive lesions of the left heart. Persistent left superior vena cava in the absence of right superior vena cava (Figure A) is a less common anomaly and is caused by the obliteration, during embryogenesis, of the right anterior cardinal vein with persistence of the left anterior cardinal vein. Its incidence is 0.09% to 0.13% among patients with congenital heart defects, and only isolated cases have been reported in the literature. The largest series consists of 9 cases and a review of the literature. This anomaly is associated with congenital heart defects in 46% of the patients and with rhythm disorders in 36%. In a review of our database from March 1995 to July 2015, we found 150 pediatric patients (aged 0-18 years) with persistent left superior vena cava; of these, the right vena cava was absent in 12 (8%). The characteristics of these patients are shown in the Table. There were 7 boys and 5 girls. The diagnosis was made during a prenatal study in 6 patients (50%), during a postnatal study in the context of an associated heart defect in 4 (33.3%), and during an echocardiographic study for another purpose (innocent murmur and examination of a newborn in whom sepsis was suspected) in 2 (16.6%). In our series, 7 patients (58%) had an associated heart defect: atrial septal defect in 4 (57%), tetralogy of Fallot in 2 (28.5%), and coarctation of the aorta in 1 (14.2%). The remaining 5 (42%) had structurally normal hearts. In addition, 2 patients (1 with no heart defect and the other with an atrial septal defect) had severe pulmonary hypertension of the newborn. The 6 patients with a prenatal diagnosis included 4 (66.6%) with smaller-than-expected left heart chambers and aortic arch; of these, 3 had no associated heart defect and they showed a progressive normalization after birth, and the fourth had tetralogy of Fallot. With regard to rhythm disorders, 4 patients (33.3%) had ectopic atrial rhythm, and no episodes of ventricular or supraventricular tachycardia were observed. Extracardiac malformations were found in 6 patients (50%) as follows: multiple malformation syndrome in 4 (33.3%) (Table), hypoacusis and psychomotor retardation of unknown origin in 1 (8%), and Down syndrome in 1 (8%). The remaining 6 (50%) had normal phenotypes and karyotypes. The 4 (33%) patients who died during follow-up had a multiple malformation syndrome. Two died after a pulmonary hypertensive crisis, 1 of them had an atrial septal defect and died prior to surgery, and the other had a structurally normal heart. The other 2 nonsurvivors had tetralogy of Fallot; 1 died after corrective surgery and the other after reintervention for severe pulmonary insufficiency. The 8 survivors (66.6%) remain asymptomatic. In the 4 patients with atrial septal defects, there was marked dilation of the right heart chambers, and 2 of them required corrective surgery at an earlier than usual age (8 months and 2 years). The patients with tetralogy of Fallot underwent intervention with the customary timing (before the age of 6 months). This report involves the largest series of patients with persistent left superior vena cava in the absence of right superior vena cava of all those published to date. In conclusion, this is a very uncommon anomaly, for which intrauterine diagnosis is possible; its frequent association with cardiac and extracardiac malformations, as well as with multiple malformation syndromes, necessitates a complete study in the fetus, including genetic analysis. The severe dilation of the coronary sinus (as shown in Figure B) and the resulting distortion of the mitral annulus could have an intrauterine effect on left ventricular filling, which would explain its frequent association with small left heart chambers and with other leftsided obstructive lesions. In patients with atrial septal defect, the compression of the mitral annulus could favor a greater left-toright shunt through the defect, which would explain the marked dilation of the right heart chambers and the need for early surgical correction. In our series, the patients with no other anomalies had an asymptomatic course, with postnatal normalization of the size of the left heart chambers. Thus, we consider that the high