J Cardiovasc Ultrasound.  2015 Jun;23(2):72-77. 10.4250/jcu.2015.23.2.72.

Prevalence of Congenital Heart Disease and Pulmonary Hypertension in Down's Syndrome: An Echocardiographic Study

Affiliations
  • 1ABC Medical Center I.A.P, Cardiovascular Division, Mexico City, Mexico. mesoto50@hotmail.com
  • 2National Institute of Cardiology "Ignacio Chavez", Echocardiography in Out-Patient Clinic, Immunology Department, Embryology Department, Mexico City, Mexico.
  • 3The John Langdon Down Foundation, A.C, Pediatric Department, Mexico City, Mexico.
  • 4St. Francis Hospital, Cardiac Imaging, New York, USA.
  • 5Massachusetts General Hospital, Interpreters Service, Boston, USA.

Abstract

BACKGROUND
Down's syndrome (DS) is a genetic anomaly, which undergoes increased morbidity and mortality when associated with congenital heart disease (CHD). The aims of the study were to determine the prevalence of CHD and pulmonary hypertension (PH) in DS.
METHODS
One hundred twenty-seven patients with DS living in Mexico City were evaluated by physical exam, electrocardiogram and echocardiogram.
RESULTS
CHD was found in 40%. In 80% (n = 102) PH was present [systolic pulmonary artery pressure (SPAP) of 47 +/- 19 mm Hg and mean pulmonary artery pressure (MPAP) of 32 +/- 11 mm Hg]. Patients with CHD and PH were classified as having 1) no shunt (n = 18) with SPAP of 37 +/- 9 mm Hg and MPAP of 25 +/- 6 mm Hg and 2) with shunt (n = 26) with PASP of 57 +/- 29 mm Hg and MPAP of 38 +/- 19 mm Hg (p < or = 0.001). In those without CHD or with CHD without shunt (n = 76), SPAP was 37 +/- 19 mm Hg and the MPAP 25 +/- 6 mm Hg. The prevalence of PH in DS was 5.9% at one year and 15% at 10 years. The odds ratio of PH in DS with CHD was 7.3 vs. 3 without CHD.
CONCLUSION
DS has a high prevalence of CHD and PH. PH prevalence increases when it is associated with CHD. The pathophysiology of PH in DS without CHD should be studied in the near future. Echocardiography is an indispensible tool for evaluation of DS.

Keyword

Down's syndrome; Echocardiogram; Pulmonary hypertension; Congenital heart disease; Shunt

MeSH Terms

Down Syndrome*
Echocardiography*
Electrocardiography
Heart Defects, Congenital*
Humans
Hydrogen-Ion Concentration
Hypertension, Pulmonary*
Mexico
Mortality
Odds Ratio
Prevalence*
Pulmonary Artery

Figure

  • Fig. 1 Anatomo-echocardiographic correlation of an isolated cleft of the septal leaflet of the mitral valve. A: Echocardiographic image showing the cleft of the septal mitral leaflet with a white arrow. B: Internal view of anatomic specimen showing left cardiac cavities, the black arrow points the cleft of the septal mitral leaflet. LA: left atrium, LV: left ventricle, RA: right atrium, RV: right ventricle.

  • Fig. 2 Graphical representation of the systolic (A) and mean (B) pulmonary artery pressure between the group of patients with shunt and the miscellaneous group. There is a statistically significant difference between groups, p = 0.001.

  • Fig. 3 Three-dimensional transthoracic images of a mixed type of Rastelli A and B unbalanced atrioventricular septal defect (A) with a common atrioventricular valve of five leaflets (B). The asterisk shows the ostium primum. RA: right atrium, RV: right ventricle, LA: left atrium, LV: left ventricle, CA-VV: common atrioventricular valve.


Reference

1. Martínez-Quintana E, Rodríguez-González F, Medina-Gil JM, Agredo-Muñoz J, Nieto-Lago V. Clinical outcome in Down syndrome patients with congenital heart disease. Cir Cir. 2010; 78:245–250.
2. Baird PA, Sadovnick AD. Life tables for Down syndrome. Hum Genet. 1989; 82:291–292.
3. Rodríguez-Hernández L, Reyes-Núñez J. [Congenital cardiopathies in Down's syndrome]. Bol Med Hosp Infant Mex. 1984; 41:622–625.
4. de Rubens Figueroa J, del Pozzo Magaña B, Pablos Hach JL, Calderón Jiménez C, Castrejón Urbina R. [Heart malformations in children with Down syndrome]. Rev Esp Cardiol. 2003; 56:894–899.
5. Weijerman ME, van Furth AM, van der Mooren MD, van Weissenbruch MM, Rammeloo L, Broers CJ, Gemke RJ. Prevalence of congenital heart defects and persistent pulmonary hypertension of the neonate with Down syndrome. Eur J Pediatr. 2010; 169:1195–1199.
6. Frid C, Drott P, Lundell B, Rasmussen F, Annerén G. Mortality in Down's syndrome in relation to congenital malformations. J Intellect Disabil Res. 1999; 43(Pt 3):234–241.
7. D'Alto M, Mahadevan VS. Pulmonary arterial hypertension associated with congenital heart disease. Eur Respir Rev. 2012; 21:328–337.
8. Suzuki K, Yamaki S, Mimori S, Murakami Y, Mori K, Takahashi Y, Kikuchi T. Pulmonary vascular disease in Down's syndrome with complete atrioventricular septal defect. Am J Cardiol. 2000; 86:434–437.
9. Byard RW. Forensic issues in Down syndrome fatalities. J Forensic Leg Med. 2007; 14:475–481.
10. Nagueh SF, Appleton CP, Gillebert TC, Marino PN, Oh JK, Smiseth OA, Waggoner AD, Flachskampf FA, Pellikka PA, Evangelisa A. Recommendations for the evaluation of left ventricular diastolic function by echocardiography. Eur J Echocardiogr. 2009; 10:165–193.
11. Saxena N, Rajagopalan N, Edelman K, López-Candales A. Tricuspid annular systolic velocity: a useful measurement in determining right ventricular systolic function regardless of pulmonary artery pressures. Echocardiography. 2006; 23:750–755.
12. Hatle L, Angelsen BA, Tromsdal A. Non-invasive estimation of pulmonary artery systolic pressure with Doppler ultrasound. Br Heart J. 1981; 45:157–165.
13. Currie PJ, Seward JB, Chan KL, Fyfe DA, Hagler DJ, Mair DD, Reeder GS, Nishimura RA, Tajik AJ. Continuous wave Doppler determination of right ventricular pressure: a simultaneous Doppler-catheterization study in 127 patients. J Am Coll Cardiol. 1985; 6:750–756.
14. Marx GR, Allen HD, Goldberg SJ. Doppler echocardiographic estimation of systolic pulmonary artery pressure in patients with aortic-pulmonary shunts. J Am Coll Cardiol. 1986; 7:880–885.
15. Simonneau G, Robbins IM, Beghetti M, Channick RN, Delcroix M, Denton CP, Elliott CG, Gaine SP, Gladwin MT, Jing ZC, Krowka MJ, Langleben D, Nakanishi N, Souza R. Updated clinical classification of pulmonary hypertension. J Am Coll Cardiol. 2009; 54:1 Suppl. S43–S54.
16. McLaughlin VV, Archer SL, Badesch DB, Barst RJ, Farber HW, Lindner JR, Mathier MA, McGoon MD, Park MH, Rosenson RS, Rubin LJ, Tapson VF, Varga J, Harrington RA, Anderson JL, Bates ER, Bridges CR, Eisenberg MJ, Ferrari VA, Grines CL, Hlatky MA, Jacobs AK, Kaul S, Lichtenberg RC, Lindner JR, Moliterno DJ, Mukherjee D, Pohost GM, Rosenson RS, Schofield RS, Shubrooks SJ, Stein JH, Tracy CM, Weitz HH, Wesley DJ. ACCF/AHA. ACCF/AHA 2009 expert consensus document on pulmonary hypertension: a report of the American College of Cardiology Foundation Task Force on Expert Consensus Documents and the American Heart Association: developed in collaboration with the American College of Chest Physicians, American Thoracic Society, Inc., and the Pulmonary Hypertension Association. Circulation. 2009; 119:2250–2294.
17. Chemla D, Castelain V, Provencher S, Humbert M, Simonneau G, Hervé P. Evaluation of various empirical formulas for estimating mean pulmonary artery pressure by using systolic pulmonary artery pressure in adults. Chest. 2009; 135:760–768.
18. Tynan MJ, Becker AE, Macartney FJ, Jiménez MQ, Shinebourne EA, Anderson RH. Nomenclature and classification of congenital heart disease. Br Heart J. 1979; 41:544–553.
19. Kitabatake A, Inoue M, Asao M, Ito H, Masuyama T, Tanouchi J, Morita T, Hori M, Yoshima H, Ohnishi K, et al. Noninvasive evaluation of the ratio of pulmonary to systemic flow in atrial septal defect by duplex Doppler echocardiography. Circulation. 1984; 69:73–79.
20. Mikkelsen M, Poulsen H, Nielsen KG. Incidence, survival, and mortality in Down syndrome in Denmark. Am J Med Genet Suppl. 1990; 7:75–78.
21. Alzamora-Castro V, Battilana G, Abugattas R, Sialer S. Patent ductus arteriosus and high altitude. Am J Cardiol. 1960; 5:761–763.
22. King P, Tulloh R. Management of pulmonary hypertension and Down syndrome. Int J Clin Pract Suppl. 2011; (174):8–13.
23. Cua CL, Blankenship A, North AL, Hayes J, Nelin LD. Increased incidence of idiopathic persistent pulmonary hypertension in Down syndrome neonates. Pediatr Cardiol. 2007; 28:250–254.
24. Lorch SM, Sharkey A. Myocardial velocity, strain, and strain rate abnormalities in healthy obese children. J Cardiometab Syndr. 2007; 2:30–34.
25. Heath D, Edwards JE. The pathology of hypertensive pulmonary vascular disease; a description of six grades of structural changes in the pulmonary arteries with special reference to congenital cardiac septal defects. Circulation. 1958; 18(4 Part 1):533–547.
26. De Micheli A, Piccolo E, Espino VelA J, Monroy G, Alvarez VR. [Observations on the mechanisms regulating pulmonary pressures in congenital heart diseases with arteriovenous shunt]. Arch Inst Cardiol Mex. 1960; 30:527–555.
27. Cooney TP, Thurlbeck WM. Pulmonary hypoplasia in Down's syndrome. N Engl J Med. 1982; 307:1170–1173.
28. Levanon A, Tarasiuk A, Tal A. Sleep characteristics in children with Down syndrome. J Pediatr. 1999; 134:755–760.
29. Banjar HH. Down's syndrome and pulmonary arterial hypertension. PVRI Rev. 2009; 1:213–216.
30. Lupi-Herrera E, Seoane M, Sandoval J, Casanova JM, Bialostozky D. Behavior of the pulmonary circulation in the grossly obese patient. Pathogenesis of pulmonary arterial hypertension at an altitude of 2,240 meters. Chest. 1980; 78:553–558.
31. Lupi-Herrera E, Sandoval J, Seoane M, Bialostozky D. Behavior of the pulmonary circulation in chronic obstructive pulmonary disease. Pathogenesis of pulmonary arterial hypertension at an attitude of 2,240 meters. Am Rev Respir Dis. 1982; 126:509–514.
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