A 32-year-old woman was referred to our hospital because of a progressive decline in her physical condition. Her medical history revealed a congenital heart defect and Down's syndrome. In the past, surgery for her heart defect had been considered, but ultimately was not performed. On physical examination central cyanosis was evident. Subsequently echocardiography was performed (figures 1 and 2; see also movies 1 and 2 on the journal's website at www.cardiologie.nl.
Figure 1 .
Parasternal long axis view. LA=left atrium, LV=left ventricle, IVS=interventricular septum, Ao=aorta.
Figure 2 .
Four-chamber view. LA=left atrium, LV=left ventricle, RA=right atrium, RV=right ventricle.
What is your diagnosis and how would you treat this patient?
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Answer
The echocardiographic findings are consistent with complete atrioventricular septal defect, see also movies 1 and 2 on the journal's website at www.cardiologie.nl. Down's syndrome is strongly associated with this congenital heart defect.1 An essential morphological hallmark is the presence of a common atrioventricular junction: there are five leaflets, two of which are bridging leaflets.1 Nowadays the recommended treatment is surgical repair, preferably before the age of six months.1
Pulmonary artery pressure could not reliably be assessed with echocardiography, but because of the central cyanosis an Eisenmenger reaction with pulmonary hypertension is likely. In the BREATHE-5 trial treatment of patients with Eisenmenger syndrome with bosentan, an endothelin receptor antagonist, has been shown to improve exercise capacity and haemodynamics. 2 Treatment with bosentan 62.5 mg twice a day was started; after four weeks the dose was increased to 125 mg twice a day. Unfortunately, after four months of treatment the six-minute walking distance showed no significant improvement.
References
- 1.Graig B. Atrioventricular septal defect: from fetus to adult. Heart 2006;92:1879–85. [DOI] [PMC free article] [PubMed] [Google Scholar]
- 2.Galiè N, Beghetti M, Gatzoulis MA, et al. Bosentan therapy in patients with Eisenmenger syndrome: a multicenter, double-blind, randomized, placebo-controlled study. Circulation 2006;114:48–54. [DOI] [PubMed] [Google Scholar]