Against all odds-late repair of multiple shunt lesions in a patient with Down syndrome: a case report.
Case report
Down syndrome
Haemodynamic evaluation
Late diagnosis
Multiples congenital heart defects
Pulmonary arterial hypertension
Surgical repair
Journal
European heart journal. Case reports
ISSN: 2514-2119
Titre abrégé: Eur Heart J Case Rep
Pays: England
ID NLM: 101730741
Informations de publication
Date de publication:
Jul 2021
Jul 2021
Historique:
received:
27
12
2020
revised:
22
01
2021
accepted:
27
05
2021
entrez:
11
8
2021
pubmed:
12
8
2021
medline:
12
8
2021
Statut:
epublish
Résumé
Children with congenital heart defects (CHD) usually undergo elective surgical repair of haemodynamically relevant shunt lesions within the first year of life. Due to susceptibility for pulmonary arterial hypertension (PAH) in patients with Down syndrome, repair is usually aimed for no later than 6 months of life. However, with rising immigration from developing countries to Europe, more patients with unrepaired CHD are diagnosed at a later age. Anatomical repair may be precluded, when advanced pulmonary vascular disease has been established. We report a 39-month-old male patient with Down syndrome with a large non-restrictive perimembranous ventricular septal defect, a large patent ductus arteriosus, and a secundum-type atrial septal defect with a prominent left-to-right shunting. Haemodynamic assessment revealed only a mild increase of pulmonary artery pressures (mPAP) with low pulmonary vascular resistance index (PVRi). Vasodilator testing led to a further increase of the left-to-right shunt and decrease of PVRi, suggesting operability. After careful consideration, the patient underwent complete surgical repair with a good post-operative clinical outcome. Cardiac catheterization 6 months after corrective repair showed a normal mPAP. No signs of PAH have been detected in the medium-term follow-up. Expertise, increased physician awareness, and a thorough pre-operative multidisciplinary evaluation are paramount to determine the best treatment approach for patients, who may present late with multiple shunts, and-in our case-underlying Down syndrome. Long-term close post-surgical follow-up in an expert centre is warranted to promptly diagnose and treat a possible late presentation of PAH appropriately.
Sections du résumé
BACKGROUND
BACKGROUND
Children with congenital heart defects (CHD) usually undergo elective surgical repair of haemodynamically relevant shunt lesions within the first year of life. Due to susceptibility for pulmonary arterial hypertension (PAH) in patients with Down syndrome, repair is usually aimed for no later than 6 months of life. However, with rising immigration from developing countries to Europe, more patients with unrepaired CHD are diagnosed at a later age. Anatomical repair may be precluded, when advanced pulmonary vascular disease has been established.
CASE SUMMARY
METHODS
We report a 39-month-old male patient with Down syndrome with a large non-restrictive perimembranous ventricular septal defect, a large patent ductus arteriosus, and a secundum-type atrial septal defect with a prominent left-to-right shunting. Haemodynamic assessment revealed only a mild increase of pulmonary artery pressures (mPAP) with low pulmonary vascular resistance index (PVRi). Vasodilator testing led to a further increase of the left-to-right shunt and decrease of PVRi, suggesting operability. After careful consideration, the patient underwent complete surgical repair with a good post-operative clinical outcome. Cardiac catheterization 6 months after corrective repair showed a normal mPAP. No signs of PAH have been detected in the medium-term follow-up.
DISCUSSION
CONCLUSIONS
Expertise, increased physician awareness, and a thorough pre-operative multidisciplinary evaluation are paramount to determine the best treatment approach for patients, who may present late with multiple shunts, and-in our case-underlying Down syndrome. Long-term close post-surgical follow-up in an expert centre is warranted to promptly diagnose and treat a possible late presentation of PAH appropriately.
Identifiants
pubmed: 34377902
doi: 10.1093/ehjcr/ytab234
pii: ytab234
pmc: PMC8343471
doi:
Types de publication
Case Reports
Langues
eng
Pagination
ytab234Informations de copyright
© The Author(s) 2021. Published by Oxford University Press on behalf of the European Society of Cardiology.
Références
Int J Cardiol. 2014 Jun 15;174(2):299-305
pubmed: 24794056
Pulm Circ. 2011 Aug 2;1(2):280-285
pubmed: 21874157
Eur Respir J. 2019 Jan 24;53(1):
pubmed: 30545978
J Heart Lung Transplant. 2019 Sep;38(9):879-901
pubmed: 31495407
Heart. 2016 May;102 Suppl 2:ii23-9
pubmed: 27053694
Int J Cardiol. 2020 Jun 1;308:28-32
pubmed: 31926641
Heart. 2020 Nov;106(21):1638-1645
pubmed: 32690623
Heart. 2018 Oct;104(19):1568-1574
pubmed: 29720395
Heart. 2019 Feb;105(4):276-282
pubmed: 30467194
J Pediatr. 2020 Apr;219:83-88
pubmed: 31987651
Indian Heart J. 2000 Jul-Aug;52(4):438-41
pubmed: 11084787
Heart. 2016 May;102 Suppl 2:ii42-8
pubmed: 27053697