Altered autonomic cardiac regulation in individuals with Down syndrome

We tested the hypothesis that individuals with Down syndrome, but without congenital heart disease, exhibit altered autonomic cardiac regulation. Ten subjects with Down syndrome (DS) and ten gender-and age-matched healthy control subjects were studied at rest and during active orthostatism, which induces reciprocal changes in sympathetic and parasympathetic traffic to the heart. Autoregressive power spectral analysis was used to investigate R-R interval variability. Baroreflex modulation of sinus node was assessed by the spontaneous baroreflex sequences method. No significant differences between DS and control subjects were observed in arterial blood pressure at rest or in response to standing. Also, R-R interval did not differ at rest. R-R interval decreased significantly less during standing in DS vs. control subjects. Low-frequency (LFNU) and high-frequency (HFNU) (both expressed in normalized units) components of R-R interval variability did not differ between DS and control subjects at rest. During standing, significant increase in LFNU and decrease in HFNU were observed in control subjects but not in DS subjects. Baroreflex sensitivity (BRS) did not differ between DS and control subjects at rest and underwent significant decrease on going from supine to upright in both groups. However, BRS was greater in DS vs. control subjects during standing. These data indicate that subjects with DS exhibit reduced HR response to orthostatic stress associated with blunted sympathetic activation and vagal withdrawal and with a lesser reduction in BRS in response to active orthostatism. These findings suggest overall impairment in autonomic cardiac regulation in DS and may help to explain the chronotropic incompetence typically reported during exercise in subjects with DS without congenital heart disease.

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Down syndrome and congenital heart disease: perioperative planning and management

Journal of Congenital Cardiology ◽

10.1186/s40949-021-00061-3 ◽

2021 ◽

Vol 5 (1) ◽

Author(s):

Dennis R. Delany ◽

Stephanie S. Gaydos ◽

Deborah A. Romeo ◽

Heather T. Henderson ◽

Kristi L. Fogg ◽

...

Keyword(s):

Congenital Heart Disease ◽

Down Syndrome ◽

Cardiac Surgery ◽

Heart Disease ◽

Congenital Heart ◽

Single Ventricle ◽

Heart Defects ◽

Careful Consideration ◽

Children With Down Syndrome ◽

Perioperative Planning

AbstractApproximately 50% of newborns with Down syndrome have congenital heart disease. Non-cardiac comorbidities may also be present. Many of the principles and strategies of perioperative evaluation and management for patients with congenital heart disease apply to those with Down syndrome. Nevertheless, careful planning for cardiac surgery is required, evaluating for both cardiac and noncardiac disease, with careful consideration of the risk for pulmonary hypertension. In this manuscript, for children with Down syndrome and hemodynamically significant congenital heart disease, we will summarize the epidemiology of heart defects that warrant intervention. We will review perioperative planning for this unique population, including anesthetic considerations, common postoperative issues, nutritional strategies, and discharge planning. Special considerations for single ventricle palliation and heart transplantation evaluation will also be discussed. Overall, the risk of mortality with cardiac surgery in pediatric patients with Down syndrome is no more than the general population, except for those with functional single ventricle heart defects. Underlying comorbidities may contribute to postoperative complications and increased length of stay. A strong understanding of cardiac and non-cardiac considerations in children with Down syndrome will help clinicians optimize perioperative care and long-term outcomes.

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Association Between Down Syndrome and In-Hospital Death Among Children Undergoing Surgery for Congenital Heart Disease

Circulation Cardiovascular Quality and Outcomes ◽

10.1161/circoutcomes.113.000764 ◽

2014 ◽

Vol 7 (3) ◽

pp. 445-452 ◽

Cited By ~ 30

Author(s):

Jacqueline M. Evans ◽

Madan Dharmar ◽

Erin Meierhenry ◽

James P. Marcin ◽

Gary W. Raff

Keyword(s):

Congenital Heart Disease ◽

Down Syndrome ◽

Heart Disease ◽

Congenital Heart ◽

Hospital Death

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Prevalence and profile of congenital heart disease and pulmonary hypertension in Down syndrome in a pediatric cardiology service

Revista Paulista de Pediatria ◽

10.1590/0103-0582201432218913 ◽

2014 ◽

Vol 32 (2) ◽

pp. 159-163 ◽

Cited By ~ 17

Author(s):

Felipe Alves Mourato ◽

Lúcia Roberta R. Villachan ◽

Sandra da Silva Mattos

Keyword(s):

Congenital Heart Disease ◽

Pulmonary Hypertension ◽

Down Syndrome ◽

Heart Disease ◽

Congenital Heart ◽

Septal Defect ◽

Heart Diseases ◽

Heart Defects ◽

Descriptive Analysis ◽

Atrioventricular Septal Defect

OBJECTIVE:To determine the frequence and profile of congenital heart defects in Down syndrome patients referred to a pediatric cardiologic center, considering the age of referral, gender, type of heart disease diagnosed by transthoracic echocardiography and its association with pulmonary hypertension at the initial diagnosis.METHODS:Cross-sectional study with retrospective data collection of 138 patients with Down syndrome from a total of 17,873 records. Descriptive analysis of the data was performed, using Epi-Info version 7.RESULTS: Among the 138 patients with Down syndrome, females prevailed (56.1%) and 112 (81.2%) were diagnosed with congenital heart disease. The most common lesion was ostium secundum atrial septal defect, present in 51.8%, followed by atrioventricular septal defect, in 46.4%. Ventricular septal defects were present in 27.7%, while tetralogy of Fallot represented 6.3% of the cases. Other cardiac malformations corresponded to 12.5%. Pulmonary hypertension was associated with 37.5% of the heart diseases. Only 35.5% of the patients were referred before six months of age.CONCLUSIONS: The low percentage of referral until six months of age highlights the need for a better tracking of patients with Down syndrome in the context of congenital heart disease, due to the high frequency and progression of pulmonary hypertension.

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Effect of Variation in Arterial Carbon Dioxide Levels on Cerebral-Somatic Oxygenation in Children with Cyanotic Congenital Heart Disease

Journal of Cardiology Research ◽

10.36879/jcr.18.000102 ◽

2018 ◽

pp. 1-6

Keyword(s):

Carbon Dioxide ◽

Congenital Heart Disease ◽

Blood Flow ◽

Heart Disease ◽

Infrared Spectroscopy ◽

Congenital Heart ◽

Near Infrared ◽

Cyanotic Congenital Heart Disease ◽

Anesthesia Induction ◽

Arterial Blood

Background: Hypocapnia is suggested in decreasing pulmonary vascular resistance in cyanotic congenital heart disease patients undergoing definitive repair. But its effects on cerebral and renal circulation are unclear. Hence the effect of changes in arterial blood carbon dioxide tensions (PaCo2 ) on cerebral (ScO2 %) and renal (SsO2 %) oxygenation indices using Near Infrared spectroscopy (NIRS) is examined. Methods: We did a prospective observational study in sixty-eight children who underwent elective cardiac surgery for various cyanotic congenital heart diseases. PaCo2 , ScO2 % and SsO2 % were obtained before induction of anesthesia, after anesthesia induction at normocapnic or mild hypercapnic ventilation (EtCo2 =40 mmHg) and again at hypocapnic ventilation (EtCo2 =30 mmHg). Regression analysis was done between PaCo2 and NIRS-C/ScO2 % and PaCo2 and NIRS-R/SsO2 % at both EtCo2 40 and 30 mmHg. Repeated measure analysis performed to evaluate the significance of change in NIRS-C and NIRS-R from pre-anesthesia induction to when EtCo2 was 40 and then 30 mmHg post anesthesia induction. Results: With decrease in EtCo2 , PaCo2 (p=0.0001), NIRS-C (p=0.0001) and NIRS-R (p=0.0001) decreased significantly. At EtCo2 of 40 and 30 mmHg, PaCo2 had significant positive correlation with NIRS-C (R2 =0.77, p=0.0001 and R2 =0.92, p=0.0001 respectively) and had insignificant correlation with NIRS-R (R2 =0.03, p=0.12 and R2 =0.008, p=0.46 respectively). Significant changes in NIRS-C {p=0.0001} and NIRS-R {p=0.0001} occurred from pre-induction to when EtCo2 was 40 and then to 30 mmHg. Conclusion: A decrease in NIRS-C and NIRS-R is probably from decreased cerebral and splanchnic blood flow during hypocapnic ventilation, leading to demand supply mismatch. Hypocapnic ventilation in cyanotic children has potential to cause cerebral hypoxia. Abbreviations: CCHD: Cyanotic Congenital Heart Disease; QP: Pulmonary blood flow; Do2 : Oxygen delivery; SpO2 : peripheral pulse oximetry; NIRS: Near Infrared Spectroscopy; NIRS-C/ScO2 %: Regional Cerebral Oxygen saturation; NIRS-R/SsO2 %: Regional Somatic/renal Oxygen saturation; HCT: Hematocrit; ECG: Electrocardiography; CPB: cardiopulmonary bypass; TOF: Tetralogy of fallot; BDG: Bidirectional Glenn Shunt; BT shunt: Blalock Taussig shunt; DORV: Double outlet right ventricle; FiO2 : Inspired oxygen concentration; ABG: Arterial blood gas; PaO2 : Arterial oxygen partial pressure; PaCo2 : Arterial carbon dioxide partial pressure; HR: Heart rate; MAP: Mean Arterial Pressure; CVP: Central Venous Pressure

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Targeted Next-Generation Sequencing of 406 Genes Identified Genetic Defects Underlying Congenital Heart Disease in Down Syndrome Patients

Pediatric Cardiology ◽

10.1007/s00246-018-1951-3 ◽

2018 ◽

Vol 39 (8) ◽

pp. 1676-1680 ◽

Cited By ~ 7

Author(s):

Khalid M. Alharbi ◽

Abdelhadi H. Al-Mazroea ◽

Atiyeh M. Abdallah ◽

Yousef Almohammadi ◽

S. Justin Carlus ◽

...

Keyword(s):

Congenital Heart Disease ◽

Down Syndrome ◽

Heart Disease ◽

Next Generation Sequencing ◽

Congenital Heart ◽

Genetic Defects ◽

Next Generation ◽

Targeted Next Generation Sequencing ◽

Generation Sequencing

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Congenital Heart Disease among Down Syndrome Children at Dr. Hasan Sadikin General Hospital from 2008 to 2013

Althea Medical Journal ◽

10.15850/amj.v5n1.1328 ◽

2018 ◽

Vol 5 (1) ◽

pp. 6-11

Author(s):

Thyviyaa Rajamany ◽

Rahmat Budi Kuswiyanto ◽

Leonardo Lubis

Keyword(s):

Congenital Heart Disease ◽

Down Syndrome ◽

Heart Disease ◽

General Hospital ◽

Congenital Heart

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Screening for Congenital Heart Disease in Infants with Down Syndrome: Is Universal Echocardiography Necessary?

Pediatric Cardiology ◽

10.1007/s00246-016-1419-2 ◽

2016 ◽

Vol 37 (7) ◽

pp. 1222-1227 ◽

Cited By ~ 8

Author(s):

Soujanya Bogarapu ◽

Nelangi M. Pinto ◽

Susan P. Etheridge ◽

Xiaoming Sheng ◽

Kirk N. Liesemer ◽

...

Keyword(s):

Congenital Heart Disease ◽

Down Syndrome ◽

Heart Disease ◽

Congenital Heart

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Abstract 2971: Managed Ventricular Pacing In Pediatric Patients And Patients With Congenital Heart Disease

Circulation ◽

10.1161/circ.116.suppl_16.ii_663-d ◽

2007 ◽

Vol 116 (suppl_16) ◽

Author(s):

Jonathan R Kaltman ◽

Pamela Ro ◽

Frank Zimmerman ◽

Jeffrey P Moak ◽

Michael Epstein ◽

...

Keyword(s):

Congenital Heart Disease ◽

Heart Disease ◽

Subgroup Analysis ◽

Congenital Heart ◽

Sinus Node ◽

Rank Test ◽

Atrial Pacing ◽

Av Block ◽

Ventricular Pacing ◽

Low Rate

Introduction: Ventricular dyssynchrony induced by ventricular pacing (VP) may predispose patients (pts) to congestive heart failure. The detrimental effects of VP are directly related to the cumulative percentage of VP (Cum%VP). Managed ventricular pacing (MVP, Medtronic) is a novel pacing algorithm developed to minimize unnecessary VP by uncoupling atrial pacing from VP. The use, efficacy, and safety of MVP in pediatrics pts and pts with congenital heart disease (CHD) have not been described. Methods: A multicenter review evaluated all pediatric pts < 22 years old and older pts with CHD that had an implanted device using an MVP algorithm. Primary outcome variables were Cum%VP and adverse events. A subgroup analysis evaluated pts that had a DDD/R pacemaker prior to MVP device with similar low pacing rate and compared Cum%VP before and after initiation of MVP, using Wilcoxon signed-rank test. Results: 62 patients from 6 centers were included for the review (see table ). Mean age at MVP device implant was 21.5 ± 9.6 years (range 7–51). 63% of pts had CHD. With MVP device, mean Cum%VP was 4.3 ± 14.6% (range 0 – 83.7). By pacing indication, Cum%VP was 2.9 ± 6.5% in pts with sinus node dysfunction (n = 24), 34.8 ± 41.3% in pts with atrioventricular (AV) block (n = 5), and 0.6 ± 1.0% in pts with an ICD (n = 33). 11 patients were eligible for subgroup analysis. With DDD/R pacing, mean low rate was 64 ppm and mean paced/sensed AV intervals were 251 and 241 ms. With MVP, mean low rate was 63 ppm and mean paced/sensed AV intervals were 193 and 166 ms. Compared to DDD/R, Cum%VP significantly decreased with MVP (67.1 ± 29.4 vs. 9.2 ± 24.8%; p < 0.005). One MVP-related adverse event occurred: a pt with intermittent AV block had symptoms with nonconducted atrial beats and was reprogrammed to DDD. Conclusions: MVP can be used safely and can significantly reduce unnecessary ventricular pacing in pediatric pts and pts with CHD. MVP should be considered when choosing a pacing mode for this pt population.

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Predictors of mortality in patients with Eisenmenger syndrome and admission to the lung transplantation waiting list

Monaldi Archives for Chest Disease ◽

10.4081/monaldi.2004.681 ◽

2004 ◽

Vol 61 (4) ◽

Cited By ~ 1

Author(s):

G. Callegari ◽

A.M. D'Armini ◽

P. Baiardi ◽

M. Viganò ◽

C. Fracchia

Keyword(s):

Congenital Heart Disease ◽

Cardiac Surgery ◽

Heart Disease ◽

Discriminant Analysis ◽

Lung Transplantation ◽

Congenital Heart ◽

Waiting List ◽

Eisenmenger Syndrome ◽

Predictors Of Mortality ◽

Arterial Blood

Background. Patients with Eisenmenger Syndrome (ES) have very severe irreversible pulmonary hypertension but the criteria for admitting such patients to a lung transplantation waiting list (LTWL) is not clear. Indeed it has been demonstrated that the natural survival of patients with ES is better than the survival achieved through lung transplantation: it follows that no guidelines are available for these patients’ admission to an LTWL. The aim of our study was to identify possible predictors of mortality in ES patients in order to reserve admission to the LTWL solely for those patients who would otherwise have the lowest probability of survival. Methods. Since 1991, 57 patients with ES from our rehabilitative centre were admitted to the LTWL of the Division of Cardiac Surgery at San Matteo Hospital, University of Pavia. At the time of the retrospective analysis, patients were divided into a group of non-transplanted survivors (27 patients - 47% of the total) and a group who had died prior to transplantation (16 patients - 28% of the total). The 14 transplanted patients (25% of the total) were not considered in the statistical analysis, considering transplantation as an “external event”. Unpaired t tests were used to compare the following factors in the survivors and in those who died: sex, “complexity” of the congenital heart disease underlying the ES, previous cardiac surgery, arterial blood gases, pulmonary function and hemodynamic parameters. Moreover, a stepwise discriminant analysis was performed in order to define a possible set of prognostic factors. Results. PaCO2 was higher in those who subsequently died (36.15±7.42 mmHg) compared with those who survived (32.5±5.33 mmHg), although this difference did not reach a statistical significance (p=0.08). Discriminant analysis defined a model in which a) complexity of the congenital heart disease, b) sex (male) and c) cardiac output were predictive of a higher risk of mortality. Conclusions. This new knowledge can be used in the decision of admission to LTWL in ES patients.

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