Twin Root Replacement in Congenital Heart Disease: Expert Technique

In adult congenital heart disease, there are situations that require both the aortic and pulmonary roots to be replaced at the time of a reoperation. This commonly involves the replacement of a previously implanted right ventricle-pulmonary artery conduit in a patient with late aortic root dilation and/or neo-aortic valve dysfunction following the Ross procedure. Similar scenarios are encountered in patients having undergone previous repair of conotruncal anomalies such as truncus arteriosus and tetralogy of Fallot with pulmonary atresia. We describe our standardized technique for twin root replacement.

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.

Validity of cardiovascular magnetic resonance in pre- and post-operative evaluation of pulmonary arteries and ventricular functions in pediatric conotruncal anomalies

Background The aim of this work is to evaluate the validity of magnetic resonance (MR) imaging in assessment of pulmonary arteries and ventricular functions with conotruncal anomalies in the pediatric population. Results Between March 2018 and December 2019, 42 patients ranging in age from 6 months to 18 years and diagnosed with conotruncal anomalies by echocardiographic examination were submitted for cardiac MRI followed by assessment of their morphological (intra- and extra-cardiac anatomy) and functional parameters. The most common conotruncal anomaly was tetralogy of Fallot which represented 45% of the cases. Cardiac magnetic resonance (CMR) compared to echocardiography showed 46% agreement in the assessment of right ventricular volumes and function. There was only 37% agreement between echocardiography and MRI in delineation of MAPCAS. Conclusion CMR provides a powerful tool, giving anatomical and physiological information that echocardiography and catheterization alone cannot provide in conotruncal anomalies.

Isolated absent right pulmonary artery in an infant with 22q11 deletion

DiGeorge syndrome is a rare spectrum of disorder affecting structures derived from third and fourth pharyngeal pouches characterised by aplasia or hypoplasia of thymus and parathyroid glands, and conotruncal anomalies. Presentation includes infants with hypocalcemic seizures, CHD, or recurrent infection. This case report illustrates a unique combination of proximal interruption of right pulmonary artery and aberrant right subclavian artery in a 3-month-old infant who was subsequently diagnosed as DiGeorge syndrome. This constellation of vascular anomalies in an infant with DiGeorge syndrome has not been previously reported in the literature.

Feasibility of Wave Intensity Analysis in Patients With Conotruncal Anomalies Before and After Pregnancy: New Physiological Insights?

Background: Conotruncal anomalies (CTA) are associated with ongoing dilation of the aortic root, as well as increased aortic stiffness, which may relate to intrinsic properties of the aorta. Pregnancy hormones lead to hemodynamic changes and remodeling of the tunica media, resulting in the opposite effect, i.e., increasing distensibility. These changes normalize post-pregnancy in healthy women but have not been fully investigated in CTA patients.Methods: We examined aortic distensibility and ventriculo-arterial coupling before and after pregnancy using cardiovascular magnetic resonance (CMR)-derived wave intensity analysis (WIA). Pre- and post-pregnancy CMR data were retrospectively analyzed. Aortic diameters were measured before, during, and after pregnancy by cardiac ultrasound and before and after pregnancy by CMR. Phase contrast MR flow sequences were used for calculating wave speed (c) and intensity (WI). A matched analysis was performed comparing results before and after pregnancy.Results: Thirteen women (n = 5, transposition of the great arteries; n = 6, tetralogy of Fallot; n = 1, double outlet right ventricle, n = 1, truncus arteriosus) had 19 pregnancies. Median time between delivery and second CMR was 2.3 years (range: 1–6 years). The aortic diameter increased significantly after pregnancy in nine (n = 9) patients by a median of 4 ± 2.3 mm (range: 2–7.0 mm, p = 0.01). There was no difference in c pre-/post-pregnancy (p = 0.73), suggesting that increased compliance, typically observed during pregnancy, does not persist long term. A significant inverse relationship was observed between c and heart rate (HR) after pregnancy (p = 0.01, r = 0.73). There was no significant difference in cardiac output, aortic/pulmonary regurgitation, or WI peaks pre-/post-pregnancy.Conclusions: WIA is feasible in this population and could provide physiological insights in larger cohorts. Aortic distensibility and wave intensity did not change before and after pregnancy in CTA patients, despite an increase in diameter, suggesting that pregnancy did not adversely affect coupling in the long-term.

The Diagnostic Yield of Prenatal Genetic Technologies in Congenital Heart Disease: A Prospective Cohort Study

<b><i>Introduction:</i></b> The objective was to evaluate: (i) the proportion of prenatally diagnosed congenital heart disease (CHD) associated with an abnormal quantitative fluorescence-PCR (QF-PCR), chromosome microarray (CMA), and exome sequencing (ES) result; and (ii) the diagnostic yield of these technologies based on CHD category and presence of extra-cardiac anomalies (ECAs). <b><i>Methods:</i></b> This prospective cohort study was set across 12 UK foetal medicine centres. All cases underwent QF-PCR, CMA, and ES, and the diagnostic yield in <i>n</i> = 147 cases of prenatally diagnosed CHD was assessed. <b><i>Results:</i></b> In 34.7% (<i>n</i> = 51/147), a genetic diagnosis was obtained. Using a stepwise testing strategy, the diagnostic yield for QF-PCR, CMA, and ES was 15.6% (<i>n</i> = 23/147), 13.7% (<i>n</i> = 17/124), and 10.2% (<i>n</i> = 11/107), respectively. Abnormal QF-PCR/shunt (septal) defects 31.4% (<i>n</i> = 11/35), <i>p</i> = 0.046, and abnormal CMA/conotruncal anomalies 22.7% (<i>n</i> = 10/44), <i>p</i> = 0.04, had significant associations. Monogenic variants were commonest in complex CHD 36.4% (<i>n</i> = 4/11). Multisystem CHD had a greater diagnostic yield overall compared to isolated OR 2.41 (95% CI, 1.1–5.1), particularly in association with brain and gastrointestinal tract anomalies. The proportion of variants of uncertain significance was 4.7% (<i>n</i> = 5/107) with ES, with none in the CMA group. <b><i>Conclusion:</i></b> In the era of prenatal ES, there remains an important role for QF-PCR and CMA. Identification of monogenic pathologic variants further allows delineation of prognosis in CHD.

Cusp-based geometric height-oriented repair of a pediatric aortic valve

Progressive aortic regurgitation can occur in pediatric patients due to root dilation with conotruncal anomalies or cusp prolapse associated with a ventricular septal defect. It is treated using various approaches influenced by personal preferences and institutional experience. We applied geometrical concepts developed for adult aortic valve repair to pediatric valves. The basal ring and sinotubular junction are downsized in relation to the geometric height of the cusp by external suture annuloplasty. The length of the cusp free margin is then adjusted with central plication, guided by measuring the effective height of the cusp. This approach facilitates the reproducibility and predictability of pediatric aortic valve repair.

Abstract 15432: Observation of Aortic Dilatation in Congenital Conotruncal Anomalies - Tetralogy of Fallot, Double Outlet Right Ventricle and Truncus Arteriosus

Backgrounds: Dilatation of aortic root or ascending aorta is often seen in the patients with conotruncal anomalies (CA). How fast these structures dilate and how we manage this phenomenon are not clear. Methods: We reviewed medical records of patients who underwent biventricular repair of CA such as tetralogy of Fallot (TOF), double outlet right ventricle (DORV) and truncus arteriosus (TA) from 2004 to 2018. We included 99 patients who had follow-up cardiac computed tomography angiography (CT) images at least 5 years since initial CT in this study. We analyzed changes of diameters of aortic root structures and ascending aorta between initial and follow-up CT images. Results: Median follow-up duration was 16.1 years (interquartile range (IQR): 11.8~26.2 years) after operation. Median interval between initial and follow-up CT examination was 9.4 years (IQR: 7.1~11.5 years). Median age of initial and follow-up CT was 4.3 years (IQR: 0.3~12.3 years) and 14.4 years (IQR: 9.2~22.9 years). The median z-scores (with IQR) of sinus of Valsalva (SV, 2.0 (0.8~3.3) → 2.4 (1.4~3.3), p=0.006) and sinotubular junction (STJ, 1.3 (-0.2~2.6) → 2.2 (0.4~3.3), p=0.001) were significantly changed, whereas aortic annulus (AA, 2.4 (0.9~3.4) → 2.3 (0.8~3.3), p=0.21) and ascending aorta (AsA, 1.6 (0.4~2.9) → 1.6 (0.03~2.6), p=0.27) did not show significant changes in CT images. Median increasing rate of diameter of AA, SV, STJ and AsA was 0.72, 0.93, 0.83 and 0.51 mm/year, respectively. Dilatation rate of AA (0.69 in TOF vs. 0.99 in TA, p=0.042) and SV (0.81 in TOF vs. 1.53 in TA, p=0.008) of TA was significantly higher than of TOF. Conclusions: In TOF, DORV and TA, SV and STJ significantly dilated, whereas AsA and AA did not significantly dilated for 9 years of follow-up. Although chance of surgical intervention for dilatation of aortic structures was rare, it might be necessary to observe closely aortic valvular function associated with structural deterioration of SV or STJ.