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

• Espinola-Zavaleta N
• Soto ME
• Romero-Gonzalez A
• Gomez-Puente LDC
• Munoz-Castellanos L
• Gopal AS
• Keirns C
• Lupi-Herrera E

• KMID: 1806914
• DOI: http://doi.org/10.4250/jcu.2015.23.2.72

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.

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