Down’s syndrome, complete atrioventricular canal, and pulmonary vascular obstructive disease

Clapp, Sandra K.; Perry, Burton L.; Farooki, Zia Q.; Jackson, William L.; Karpawich, Peter P.; Hakimi, Mehdi; Arciniegas, Eduardo; Green, Edward W.; Pinsky, William W.

doi:10.1016/s0022-5223(19)35606-5

Cited by 123 publications

(48 citation statements)

References 18 publications

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“…In their guidelines for health care in individuals with Down syndrome, the American Academy of Pediatrics and the Down Syndrome Medical Interest Group recommend routine neonatal echocardiography, including patients without a murmur [Cohen, 1996; are limited [Bhatia et al, 1992;Rosenberg et al, 1994;Shashi et al, 2002]. Because patients with Down syndrome may be at risk for earlier complications related to cardiovascular anomalies than patients without Down syndrome [Clapp et al, 1990;Hals et al, 1993], and because families may desire and benefit from complete counseling, it may be advantageous to identify cardiovascular anomalies as early as possible. To determine whether physical examination findings are a reliable means of ascertaining cardiovascular anomalies in neonates with Down syndrome, we assessed the sensitivity and specificity of physical examination for predicting an abnormal echocardiogram in 118 patients with Down syndrome evaluated during the first month of life.…”

Section: Introductionmentioning

confidence: 99%

Correlation between abnormal cardiac physical examination and echocardiographic findings in neonates with Down syndrome

et al. 2002

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Congenital heart disease is present in 40-50% of individuals with Down syndrome. Although cardiovascular evaluation is a standard component of the diagnostic work-up in patients with Down syndrome, the value of routine neonatal echocardiography in this population is debated. We studied 114 neonates with Down syndrome who underwent both cardiac physical examination and echocardiography in the neonatal period to assess the accuracy of physical examination for identifying cardiovascular anomalies in this population. We retrospectively reviewed physical examination records and echocardiogram reports in 114 neonates with Down syndrome and trisomy 21. A patient was considered to have an abnormal cardiac physical examination if there was a pathologic cardiac murmur and/or cyanosis or an abnormal systemic arterial oxygen saturation. The median age at the time of physical examination was 2 days (1-30 days). Physical examination findings suggestive of cardiovascular pathology were noted in 77 patients (68%), with an abnormal cardiac murmur in 34 (30%), cyanosis and/or a pulse oximeter reading of < or = 92% in 35 (31%), and both in 7 (6%). The echocardiogram was abnormal in 75 patients (66%), with an atrioventricular septal defect in 33, tetralogy of Fallot in 13, both of these anomalies in 2, a ventricular septal defect in 17, a patent ductus arteriosus beyond 7 days of age in 7, and other anomalies in 2. The sensitivity of physical examination findings for detection of cardiovascular anomalies was 80% and the specificity was 56%. The positive predictive value of an abnormal physical examination was 78% and the negative predictive value of a normal physical examination was 59%. Fifteen patients had a normal physical examination but an abnormal echocardiogram, nine of whom eventually required surgery. Physical examination alone is not sufficient to identify cardiovascular anomalies in neonates with Down syndrome. In the newborn with Down syndrome, the potential benefits of early diagnosis, in the context of physical examination findings, should be considered in determining whether an echocardiogram should be performed in the neonatal period.

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Section: Introductionmentioning

confidence: 99%

Correlation between abnormal cardiac physical examination and echocardiographic findings in neonates with Down syndrome

et al. 2002

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“…This is not surprising and is likely multifactorial in the setting of congenital malformations and the propensity of patients with Down syndrome to develop pulmonary hypertension because of hypoventilation from upper airway abnormalities, sleep apnea with macroglossia and tracheomalacia, and reduction in the number of alveoli. [16][17][18][19][20] Eight patients in our cohort had elevated pulmonary pressures and obstructive sleep apnea preoperatively. Moreover, all the patients that had postoperative pulmonary infections and required tracheostomies had pulmonary hypertension preoperatively which is likely a reflection of the airway and lung abnormalities.…”

Section: Discussionmentioning

confidence: 99%

Adults with Down Syndrome: Safety and Long-term Outcome of Cardiac Operation

Majdalany¹,

Burkhart²,

Connolly³

et al. 2010

Congenital Heart Disease

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Objective. As limited data exist, we sought to review the safety and outcome of cardiac surgery in the adult Down syndrome population. Design. We reviewed the data of all patients Ն18 years old with Down syndrome who underwent cardiac surgery at our hospital. Results. Fifty patients underwent 57 surgeries (mean age 33 years). Fifteen patients had prior cardiac operations in childhood: 7 complete and 1 partial atrioventricular canal, 2 secundum atrial septal defect, 2 Tetralogy of Fallot, 1 patent ductus arteriosus, 1 combined atrioventricular canal and Tetralogy of Fallot, and 1 ventricular septal defect.Operations in adult Down syndrome patients included repair of partial atrioventricular canal in 17, aortic valve replacement in 7, mitral valve replacement/repair in 7, ventricular septal defect in 6, atrial septal defect in 3, Tetralogy of Fallot in 3, pulmonary valve replacement in 3, and other in 11. There was 1 in-hospital death (1.8%) from multiorgan failure. The mean hospital stay was 10.6 days. Average ventilatory support was 2.4 days (range 0-32). Atrial arrhythmias occurred in 14 patients (25%). Six patients had early postoperative pulmonary infections. Mean follow-up was 6 years, maximum 29 years. There were eight late deaths at an average age of 52 years (range 30-58) occurring 15 years postoperatively (range 32 days-29 years); two in the setting of dementia (mean age 56 years). Conclusion. At an experienced center, adult patients with Down syndrome can undergo cardiac surgery with a low risk of mortality and acceptable morbidity. Atrial arrhythmias and pulmonary infections are common postoperatively.

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“…[7][8][9] Despite the switching strategy of early primary repair, the mean age at corrective repair in group 2 (after 1990) was 9.9 months, which made no significant difference between group 1 (before 1990 Complete AVSD has been reported to be associated with an unusual high incidence of pulmonary hypertension and pulmonary vascular obstructive disease. [10][11][12] On the basis of histologic specimens from patients with and without Down syndrome, Yamaki and associates reported a more severe form of pulmonary vascular disease in patients with Down syndrome, with significant differences in the amount of initial lesions and medial thickness of the small pulmonary arteries. 13 On the basis of these findings, early repair within the first six months of life was recommended over the decade ago.…”

Section: Discussionmentioning

confidence: 99%