OBJECTIVES:

Children with various single ventricle anomalies are at risk of developing systemic ventricular outflow tract obstruction (SVOTO) following volume unloading with cavopulmonary connection (CPC). We aim to evaluate the value of Damus-Kaye-Stansel (DKS) anastomosis at the time of CPC in eliminating late SVOTO risk.

METHODS:

Retrospective review of single ventricle patients who underwent DKS concurrent with CPC between 1997 and 2012 was performed. Clinical, echocardiographic and angiographic outcomes were analysed.

RESULTS:

Thirty-six children with single ventricle underwent DKS at the time of Glenn bidirectional CPC (n = 29) or Fontan total CPC (n = 7). The underlying anatomy was double inlet left ventricle (n = 18), double outlet right ventricle (n = 8), unbalanced atrioventricular septal defect (n = 4) and other (n = 6). Prior palliation included pulmonary artery band (n = 35), coarctation/arch repair (n = 11) and atrial septectomy (n = 8). Median age at the time of DKS was 8.9 months (range 3.6 months-9.1 years) and the median weight was 6.7 kg (range 5-27 kg). At the time of DKS, 17 patients (47%) had no SVOT gradient and 19 (53%) had SVOT gradient (mean 23.4 ± 18.7 mmHg). Overall survival was 89 and 83% at 1 month and 5 years, respectively. None of the deaths were related to SVOTO or DKS complications. When present, SVOT gradient decreased from 23.4 ± 18.7 mmHg preoperatively to 0 after DKS (P < 0.001). At the last follow-up, none of the patients developed any SVOT gradient; 78% of them had zero or trivial aortic/neoaortic valve regurgitation while 22% had mild regurgitation. None of the patients had evidence of compression of the left pulmonary artery or bronchus. Eighty-one percent of patients have reached or are suitable candidates awaiting final palliative surgery.

CONCLUSIONS:

DKS can be safely performed in conjunction with CPC without added mortality risk. It is very effective in mitigating SVOTO risk, with sustainable good semilunar valves function. Our data support an aggressive approach to performing DKS concurrent with CPC in children with single ventricle pathologies at risk of developing SVOTO.

Segmental hemangiomas of the head and neck can be associated with multiple congenital anomalies in the disorder known as PHACE syndrome (OMIM 606519) (posterior fossa malformations, hemangioma, arterial anomalies, cardiac defects, and eye anomalies). All reported cases of PHACE syndrome to date have been sporadic, and the genetic basis of this disorder has not yet been established. PHACE syndrome has a striking female predominance which has raised the question of X-linked inheritance. In this study, the X chromosome-inactivation (XCI) patterns of 31 females with PHACE syndrome and their mothers were analyzed using blood-derived DNA and X-chromosome locus methylation assay. This study was performed to test the hypothesis that some cases of PHACE syndrome are due to X-linked inheritance and favorable skewing in the mothers may protect against a severe phenotype, but the clinical phenotype may be unmasked in daughters with a random pattern of X-inactivation. XCI analysis was informative in 27/31 mothers. Our results identified skewed XCI in 5 of 27 (19%) informative mothers, which is not statistically significant with a p value of 0.41. None of the mothers reported significant medical problems, although a full PHACE work-up has not been performed in these individuals. Skewed XCI in the mothers of children with PHACE was identified in only a minority of cases. Based on these results, genetic heterogeneity is likely in PHACE syndrome, although it is possible a subset of cases are caused by a mutation in an X-linked gene.

BACKGROUND:

We evaluated the occurrence and treatment of aortic aneurysms in coarctation patients.

METHODS:

During 1962 to 2011, 943 cases of coarctation were repaired. Aortic aneurysms were identified in 55 patients (5.8%). Forty-eight had prior coarctation repair (median 23 years earlier, interquartile range 18 to 26 years). Forty-two aneurysms were found in the descending thoracic aorta (76.4%), 18 in the ascending aorta (32.7%), 8 in the left subclavian artery (14.5%), and 1 each (1.8%) in the abdominal aorta, iliac artery, and innominate artery. Twenty-three patients (41.8%) had multiple aneurysms. Twenty-five patients (45.4%) had a bicuspid aortic valve.

RESULTS:

Fifty-three patients' aneurysms were treated surgically. Thirty-five (66.0%) had descending thoracic aortic repair, of whom 11 had aorto-left subclavian bypass. Aortic cross-clamping alone was used in 23 patients, left heart bypass in 4, and circulatory arrest in 8. Eleven patients underwent endovascular repair (20.8%). Proximal aortic aneurysms were repaired in 7 patients (13.2%); 1 had simultaneous antegrade endostent delivery. Four patients had ascending-to-descending aortic bypass (7.3%). Concomitant valve-sparing root repair was performed in 2 patients, Bentall in 4, aortic valve replacement in 3, and coronary artery bypass in 1. One 30-day death occurred (1.9%). Three patients (5.7%) had transient neurologic deficits, 2 (3.8%) required tracheostomy, and 11 (20.8%) had vocal cord paralysis.

CONCLUSIONS:

Coarctation is a marker for aortic aneurysm formation in adults and merits long-term surveillance. Anatomic complexity and associated conditions can complicate the surgical repair. Various open, extra-anatomic, and endovascular techniques may be used.

Children born with a left ventricular outflow tract obstruction (LVOTO) can present with symptoms of left ventricular (LV) failure while ejection fraction (EF) is normal. A more sensitive parameter of systolic function might be obtained with speckle tracking echocardiography, which describes ventricular longitudinal deformation in strain values. It is presumed that despite a normal or only slight decrease in ejection fraction, patients with a LVOTO demonstrate aberrations in the longitudinal deformation of the left ventricle. In addition, it is expected that after a successful intervention, longitudinal deformation returns to normal values. Standard trans-thoracic echocardiography was performed on 33 consecutive patients with a LVOTO, either an isolated aortic coarctation (AoCo) or an isolated aortic stenosis (AoSt). Before intervention a significant decrease in strain values was observed compared with the control group (N = 40), with an additional decrease in strain values in the first week after intervention (N = 16). Strain values recovered after a mean follow-up period of 42 wk (N = 9), though normal values were never reached. In addition, patients with an AoCo had a smaller decrease in strain values compared with patients with AoSt. All strain values were measured with a concomitant ejection fraction between normal limits. It is concluded that patients with a congenital LVOTO have decreased ventricular systolic function measured as strain values, whereas their ejection fraction is within the normal range. Therefore, as ejection fraction may not be an accurate measure, speckle tracking-based strain may be significant in the identification of subtle changes in longitudinal deformation and may create opportunities for patients to benefit from early treatment for heart failure.

The anomalous origin of the right pulmonary artery from the ascending aorta combined with coarctation of aorta is a rare congenital malformation. The method chosen for performing a prompt surgery to correct the multiple disease lesions is important. Here we report one-stage surgical strategy which involved a double-flap technique alongside an extended end-to-end arch reconstruction in a newborn baby.

This case report describes a unique form of a complex congenital anomaly; ventricular septal defect associated with patent ductus arterious and coarctation of aorta in a 21-year-old patient with a multimodality approach.

Object Spinal aneurysms (SAs) are rare lesions. The clinicoradiological features and the exact degree of their association with comorbid conditions such as arteriovenous malformations (AVMs) and coarctation of the aorta have not been definitively described. The ideal management paradigm has not been established. The authors reviewed literature to determine the clinical patterns of presentation, management, and outcome of spinal aneurysms. Methods A systematic review of literature was performed using 23 separate strings. A total of 10,190 papers were screened to identify 87 papers that met the inclusion criteria. A total of 123 SAs could be included for analysis. Results The mean age of patients at presentation was 38 years; 10% of patients were aged less than 10 years and nearly 50% were greater than 38 years. Spinal aneurysms can be divided into 2 groups: those associated with AVMs (SA-AVMs, or Type 1 SAs) and those with isolated aneurysms (iSAs, or Type 2 SAs). Patients with Type 2 SAs were older and more likely to present with bleeding than those with Type 1 SAs. The acute syndromes can be divided into 3 groups of patients: those with spinal syndrome, those with cranial/craniospinal syndrome, and those with nonspecific presentation. Overall, 32.6% presented with angiography-negative cranial subarachnoid hemorrhage (SAH). Presentation with evidence of cord dysfunction (myelopathy/weakness/sensory loss/bladder involvement) correlated with poor outcome, as did presentation with hemorrhage and association with other comorbid conditions. Surgery and endovascular therapy both led to comparable rates of complete aneurysm obliteration for Type 2 SAs, whereas for the AVM-associated Type 1 SAs, surgery led to better rates of lesion obliteration. The authors propose a classification scheme for spinal aneurysms based on whether the lesion is solitary or is associated with a coexistent spinal AVM; this would also imply that the ideal therapy for the aneurysm would differ based on this association. Conclusions The clinical and radiological patterns that influence outcome are distinct for Type 1 and Type 2 SAs. The ideal treatment for Type 1 SAs appears to be excision, whereas surgery and endovascular therapy were equally effective for Type 2 SAs.

The midaortic syndrome (MAS) refers to descending thoracic and abdominal aortic coarctation, which is rare and most common in the pediatric population. Open surgical repair, often with aortoaortic bypass, remains a highly effective treatment and is traditionally thought to be definitive despite concerns over patient growth postoperatively. This article presents 2 cases of MAS treated with aortoaortic bypass who developed long-term complications, one related to patient growth and the other to graft-enteric fistula. Consideration must be given to patient growth at operation for MAS, and long-term follow-up is necessary to identify other complications.

Transcatheter treatment of aortic coarctation, with balloon angioplasty or stent implantation, is now an acceptable alternative to surgical repair. However these procedures may result in complications, such as vascular wall injury and re-stenosis of the lesion. A nitinol self-expandable stent, when deployed at the coarctation site, produces low constant radial force, which may result in a gradual widening of the stenotic lesion leaving less tissue injury ('stretching rather than tearing'). For an adolescent with a native aortic coarctation, a self-expandable stent of 20 mm diameter was inserted at the discrete stenotic lesion of 5 mm diameter without previous balloon dilatation procedure. No further balloon dilatation was done immediately after the stent insertion. With the self-expandable stent only, the stenosis of the lesion was partially relieved immediately after the stent deployment. Over several months after the stent insertion, gradual further widening of the stent waist to an acceptable dimension was observed.

Caudal appendage is a rare dysmorphic feature of which etiologic mechanisms are not well understood. Here we report monozygotic (MZ) twin brothers who are discordant for the caudal appendage and multiple congenital anomalies. Twins were the product of a 33 weeks of gestation, monochorionic-diamniotic pregnancy. On admission the proband had micrognathia, beaked nose, hypospadias, caudal appendage and juxtaductal aorta coarctation. At birth, he was small for gestational age and he had transient hypothyroidism which was detected in the newborn period. Karyotype analysis showed 46,XY. Monozygosity was shown by 15 microsatellite markers plus amelogenin (AmpFlSTR Identifiler PCR Amplification Kit, Applied Biosystems). Genome-wide copy number analysis of the twins by DNA-DNA hybridization of whole genomic DNA (NimbleGen Human CGH 385K WG-T v2.0 array) showed a significant difference at two neighboring probes with Log2 ratio: 0.72088 which are located on chromosome 3p12.3. Further analysis by high resolution of chromosome 3 array (Roche NimbleGen Human HG18 CHR3 FT Median Probe Spacing 475 bp) and quantitative PCR analysis did not confirm the deletion.