Aortic Dilatation in Children and Young People With ADPKD.

Introduction: Aortic root dilatation is a reported cardiovascular sequela seen in children and young people (CYP) with chronic kidney disease (CKD) but has yet to be described in those with autosomal dominant polycystic kidney disease (ADPKD). Methods: Single center, cross-sectional study in a dedicated ADPKD clinic. Echocardiograms were evaluated for the presence of dilatation (defined by a z-score ≥2 [≥99th percentile] SDs from the mean) at 4 standardized locations, namely the aortic valve annulus, sinuses of Valsalva (SoV), sinotubular junction (STJ), and the ascending aorta. Measurements were compared with a control group to assess prevalence, severity, and determinants of aortic dilatation. Results: Ninety-seven children, median age (interquartile range) of 9.3 (6.1, 13.6) years were compared with 19 controls without ADPKD or other CKD. The prevalence of dilatation ranged from 5.2% to 17% in ADPKD, depending on anatomical location with no aortic dilatation identified in the control group. In multivariable regression, aortic root dilatation was significantly associated with cyst burden at the aortic valve annulus and SoV (ß = 0.42 and ß = 0.39, both P < 0.001), with age at SoV (ß = -0.26, P = 0.02), systolic blood pressure (SBP) z-score at SoV (ß = -0.20, P = 0.04) and left ventricular mass index (LVMI) at SoV and STJ (ß = 0.24, P = 0.02 and ß = 0.25, P = 0.03, respectively) following adjustment for age, sex (male or female), body mass index (BMI) z-score, estimated glomerular filtration rate (eGFR), SBP z-score, and LVMI. Conclusion: Our data suggests increased prevalence of aortic root and ascending aortic dilatation in CYP with ADPKD compared with controls. Further studies are needed to understand the pathogenesis and its contribution to the high cardiovascular morbidity in ADPKD.

Prevalence of cardiac valvar abnormalities in children and young people with autosomal dominant polycystic kidney disease.

BACKGROUND: Valvar abnormalities in children and adults with autosomal dominant polycystic kidney disease (ADPKD) have previously been reported as a frequent occurrence. Mitral valve prolapse (MVP), in particular, has been reported in almost one-third of adult patients and nearly 12% of children with ADPKD. Our objective in this study was to establish the prevalence of valvar abnormalities in a large, contemporary series of children and young people (CYP) with ADPKD. METHODS: A retrospective, single centre, cross-sectional analysis of the echocardiograms performed on all consecutive children seen in a dedicated paediatric ADPKD clinic. Full anatomical and functional echocardiograms were performed and analysed for valvar abnormalities. RESULTS: The echocardiograms of 102 CYP with ADPKD (range 0.25-18 years, mean age 10.3 years, SD ± 5.3 years) were analysed. One (0.98%), 3-year-old boy, had MVP. There was no associated mitral regurgitation. Evaluating variations in normal valvar anatomy, 9 (8.8%) patients, aged 7.1 to 18 years, had minor bowing ± visual elongation of either the anterior or posterior leaflet of the mitral valve, none of which fell within the criteria of true MVP. Three (1.9%) patients, 2 boys and 1 girl aged between 7 and 14 years, had trivial or mild aortic regurgitation. No patients had echocardiographic evidence of tricuspid valve prolapse (TVP). CONCLUSION: In this contemporary cohort of CYP with ADPKD, the incidence of MVP and other valvar lesions is significantly lower than previously reported. A higher resolution version of the Graphical abstract is available as Supplementary information.

Transcatheter creation of a pulmonary artery to left atrial fenestration in a failing Fontan circulation using the Atrial Flow Regulator (AFR).

Transcatheter creation of an interatrial communication using the Occlutech Atrial Flow Regulator Device for pulmonary hypertension or heart failure is well described. We report a case of an 8-year-old boy with a failing Fontan circulation, in whom the Atrial Flow Regulator was used to successfully create a fenestration between the pulmonary artery and left atrium, improving his clinical condition.

Silent and dangerous: catheter-associated right atrial thrombus (CRAT) in children on chronic haemodialysis.

BACKGROUND: Catheter-associated right atrial thrombus (CRAT) is a recognised complication of central venous catheter (CVC) use for haemodialysis (HD) patients. METHODS: This was a single-centre retrospective longitudinal observational study of consecutive children aged 6 months-18 years over a 7-year period receiving in-centre chronic HD. Echocardiograms as per routine cardiac surveillance were performed 6 months or earlier given clinical concerns. RESULTS: Sixty-five children, 36 boys (55.4%), median (IQR) age 11.8 (5.3, 14.7) years, received HD for kidney failure with replacement therapy (KFRT). Initial modality was HD in 45 (69.2%), with CVC as initial access in 42 (93.3%) and AVF in 3 (6.7%); in the remaining 20 (30.8%) patients PD was the initial modality before switching to HD. Seven of 65 (10.8%) developed CRAT at median 2 (0.8, 8.4) months from CVC insertion, with one CRAT detected 3 days following insertion. One child had 2 episodes of CRAT and one additionally thrombosed their AVF. No patient had an underlying primary kidney disease associated with a pro-thrombotic state. Those with CRAT were younger, had more frequent CVC change and received dialysis for longer duration compared to those with no CRAT. Six episodes of CRAT (75%) received anticoagulation therapy. Infective complications were observed in 25% and catheter malfunction in 50%. Five CRAT episodes (62.5%) resulted in CVC loss. One patient died after a haemorrhagic complication of anticoagulation and sepsis, and another developed life-threatening superior vena cava obstruction syndrome. Overall mortality 14% (1/7). CONCLUSIONS: This is the first report of CRAT in a paediatric HD population. There was ~ 11% incidence of CRAT in patients receiving chronic HD detected by surveillance echocardiography. Although frequently asymptomatic, CRAT is associated with serious sequelae. Anticoagulation and surveillance with expert echocardiography remain mainstays of management. Graphical abstract.

Central blood pressure and measures of early vascular disease in children with ADPKD.

BACKGROUND: There is growing recognition of hypertension in a significant proportion of children with ADPKD. In this study, we assessed blood pressure and cardiovascular status in children with ADPKD. METHODS: A prospective two-centre observational study of children (< 18 years) with ADPKD was compared against age- and BMI-matched healthy controls. Children underwent peripheral BP (pBP) measured using an aneroid sphygmomanometer and auscultation, 24-h ambulatory BP monitoring (ABPM), non-invasive central BP (cBP) measurement, carotid-femoral pulse wave velocity (PWVcf) measured using applanation tonometry and measurement of indexed left ventricular mass (LVMI) using echocardiography. This study received independent ethical approval. RESULTS: Forty-seven children with ADPKD and 49 healthy controls were recruited (median age 11 years vs. 12 years). Children with ADPKD had significantly higher systolic pBP (mean 112 ± 13.5 mmHg vs. 104 ± 11 mmHg, p < 0.001), higher systolic cBP (mean 97 ± 12.8 mmHg vs. 87 ± 9.8 mmHg, p < 0.001) and lower pulse pressure amplification ratio (1.59 ± 0.2 vs. 1.67 ± 0.1, p = 0.04) compared to healthy children. Thirty-five percent of children with ADPKD showed a lack of appropriate nocturnal dipping on 24-h ABPM. There was no difference in PWVcf between children with ADPKD and healthy children (mean 5.74 ± 1 m/s vs. 5.57 ± 0.9 m/s, p = 0.46). Those with ADPKD had a significantly higher LVMI (mean 30.4 ± 6.6 g/m2.7 vs. 26.2 ± 6.2 g/m2.7, p = 0.01). CONCLUSIONS: These data highlight the high prevalence of hypertension in children with ADPKD, also demonstrating early cardiovascular dysfunction with increased LVMI and reduced PP amplification despite preserved PWVcf, when compared with healthy peers. These early cardiovascular abnormalities are likely to be amenable to antihypertensive therapy, reinforcing the need for routine screening of children with ADPKD.

Echocardiographic approach to catheter closure of atrial septal defects: patient selection, procedural guidance and post-procedural checks.

Echocardiography is the imaging modality of choice to diagnose different types of atrial septal defect and to determine which defects are suitable for catheter occlusion. In addition to assessment of defect size and rims, transoesophageal echocardiography may be used to guide the procedure itself including device placement, procedural complications and post-procedural checks. This review covers a practical approach to this subject and is accompanied by online videos illustrating the technique.

Electrocardiography is a poor screening test to detect left ventricular hypertrophy in children.

BACKGROUND: Detection of left ventricular hypertrophy (LVH) is clinically important because it can be predictive of adverse clinical outcome. However, the best method for detecting LVH in clinical practice is unclear. The aim of this study was to evaluate electrocardiography (ECG) compared with echocardiography (ECHO) as a screening test to detect LVH in a high risk population. METHOD: In a prospective, double-blinded, single centre analysis of a population of children with chronic kidney disease, LVH detected using standard 12-lead ECG (ECG-LVH) was compared with that detected with 2D-guided M-mode ECHO (ECHO-LVH). Two electrocardiographic methods (A and B) were used to diagnose ECG-LVH and compared with three different indexation methods to define ECHO-LVH. RESULTS: 70 consecutively enrolled participants had 107 ECG and ECHO studies performed on the same day. The prevalence of ECHO-LVH ranged from 17% to 55% using different indexation methods. Increased R wave amplitude using recent age and gender specific voltage criteria (ECG method B) demonstrated the highest sensitivity (68-76%) and specificity (43-77%) for detecting ECHO-LVH. The negative predictive value (NPV) for R waves using ECG method B was 52.4% (range 40-68.6%). For all other ECG criteria, sensitivity did not exceed 13% irrespective of the ECG or ECHO method used. CONCLUSIONS: In children, the standard 12-lead electrocardiogram has low sensitivity and low NPV for detecting LVH. These findings are relevant for physiological LVH and should not be extrapolated to detection of hypertrophic cardiomyopathy. In clinical practice, ECHO alone should be used to exclude LVH.

Incidence of left ventricular hypertrophy in children with kidney disease: impact of method of indexation of left ventricular mass.

AIMS: Patients with chronic kidney disease are at high risk of cardiovascular morbidity and mortality. Increased left ventricular mass (LVM) has been shown to be an adverse prognostic factor. LVM may be indexed for body size by different methods related to height, weight, or body surface area (BSA). Our Null hypothesis was that different methods of indexation would not influence categorization as to whether LVM was within normal limits or increased. METHODS AND RESULTS: Prospective study in children with renal disease. M-mode echocardiography assessed by single investigator blinded to medical therapy. Three different partition values and two different published z-scores were used: Method 1: indexation of LVM to the allometric height in metres raised to the power of 2.7 (m(2.7)), value of 38.6 g/m(2.7) denotes 95th percentile. Method 2: indexation of LVM by body weight, ratio of LVM in gm/kg of >3.0 indicating LVH. Method 3: indexation by BSA, 88.9 g/m(2) represents 95th percentile. Z-score based methods from recent studies with z-score >1.65 denoting LVH, Method 4: z-score indexed either for BSA or Method 5, z-score indexed for height(2.7). One hundred and twenty-three echocardiograms were performed in 80 patients with a mean +/- SD age of 13.1 +/- 3.1 years, height 147.2 +/- 15.3 cm, weight 46.4 +/- 15.8 kg, and body mass index 20.8 +/- 4.1 kg/m(2). Method 1, LVH was observed in 68 (55.3%) studies. Method 2, 32 (26%) studies had LVM/kg >3.0. Method 3, 51 studies (41.5%) demonstrated LVH. Method 4, 22 (17.9%) studies demonstrated LVH and Method 5, 25 studies (20%) demonstrated LVH (chi(2) test, P < 0.001). CONCLUSION: Different methods of indexation have a profound influence on the categorization of children with respect to LVH. This will have a major impact on the number of patients who are treated as per current guidelines especially in high-risk groups.

An echocardiographic study of tetralogy of Fallot in the fetus and infant.

OBJECTIVE: To document the echocardiographic features of tetralogy of Fallot during fetal and postnatal life. Correlation of echocardiographic findings with the requirement for early intervention prior to definitive repair. DESIGN: Retrospective observational study. SETTING: A tertiary fetal cardiology unit. PATIENTS: Fetuses with a diagnosis of tetralogy of Fallot identified from a prospective database between 1 January 1999 and 31 October 2002. MAIN MEASURES OF OUTCOME: Growth of aorta and pulmonary trunk during fetal and postnatal life. Doppler assessment of the great arteries both prenatally and postnatally. Clinical outcome to definitive repair. RESULTS: We identified 25 fetuses with tetralogy of Fallot, 23 having a pulmonary valvar diameter below the normal range at some point during gestation. The ratio of the diameter of the aortic to the pulmonary valve was abnormal in all cases. The pulmonary arterial Doppler velocity was within the normal range in six fetuses at presentation,and elevated in the remainder. In two fetuses, the right ventricular outflow tract was patent during fetal life, but had become atretic at birth. Both of these fetuses had reversal of flow in the arterial duct at presentation during fetal life. In 2 fetuses in whom we showed poor growth of the pulmonary trunk in late gestation, it was necessary to intervene early. The Doppler velocity across the pulmonary valve during fetal life did not differentiate between babies who required early intervention and those who were repaired electively. There was a marked increase in pulmonary arterial Doppler velocity following birth, which became more elevated with age. Of 18 liveborn infants, 17 have survived, with 2 having balloon dilation of the right ventricular outflow tract, and 3 insertion of a Blalock-Taussig shunt prior to definitive repair. CONCLUSIONS: In tetralogy of Fallot, features of pulmonary valvar hypoplasia and obstruction are evident during fetal life. Progression of obstruction in the right ventricular outflow tract was observed during fetal life as well as postnatally. Reversal of flow in the arterial duct, and failure of growth of the pulmonary trunk, predicted the need for early surgery to maintain pulmonary blood flow. Parents should be counselled about the possibility of emergency intervention being required after birth. Affected fetuses should be delivered at units with experience of managing the cyanosed newborn.