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Reversal of Pulmonary Hypertension in a patient with Down’s syndrome, Obstructive Sleep Apnea and repaired Tetralogy of Fallot

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Conference: 2014 International PHA Conference and Scientific Sessions

Release Date: 06.22.2014

Presentation Type: Abstracts

File Download: 2014 Conference Abstract - Paresh Giri

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Children with Down’s Syndrome (DS) are at increased risk for pulmonary hypertension (PH) due to multiple factors: congenital heart defects (CHDs) and incomplete surgical repair of such, persistent left-to-right shunts, chronic upper airway obstruction, abnormal vasculature growth, alveolar hypoventilation, recurrent pulmonary infections, abnormal media of pulmonary arterioles and diminished alveoli density1-3.

Background: Children with Down’s syndrome (DS) are at increased risk for pulmonary hypertension (PH) due to multiple factors: congenital heart defects (CHDs) and incomplete surgical repair of such, persistent left-to-right shunts, chronic upper airway obstruction, abnormal vasculature growth, alveolar hypoventilation, recurrent pulmonary infections, abnormal media of pulmonary arterioles and diminished alveoli density1-3. 

Case Report: A male child with Down’s syndrome, born in 1992, underwent complete and successful repair of TOF (Tetralogy of Fallot) at 6 months of age.

1997: Supplemental O2 for hypoxemia started; diagnosed with asthma and inhaled bronchodilator/steroid therapy initiated

1999: Decreased exercise tolerance/early fatigue, Echocardiogram showed RVSP (right ventricle systolic pressure) of 81 mmHg, right ventricle (RV) dilation, no valvular abnormalities

2000: Started on sildenafil and digoxin

2001-current: Recurrent pulmonary infections/asthma exacerbations, 2-3/year, requiring VATS (Video-assisted thoracoscopic surgery) for a loculated pleural effusion in 2006

2006: Right heart catheterization: RAP 10/9/8, RV 48/0, PA 48/19/30, PCWP 17/14/13, PVR 4.2 WU, CO 4.3 L/min, no change with nitric oxide challenge; Saturations: SVC 71%, IVC 70%, RA 70%, PA 70%, systemic 91%; Angiogram: no Pulmonary artery stenosis or regurgitation, pulmonary veins draining to left atrium, mildly dilated RV.

2008: Dyspnea on exertion 50 ft, wheel chair bound; Echo: RVSP 62, Dilated RV, septal flattening; Bosentan and diuretics started

2009: OSA (Obstructive sleep apnea), CPAP (Continuous Positive Airway Pressure) started

2012: Echo: Normal RVSP, mild RV dilation, no septal flattening

2013: Able to walk without limitation; Echo: Normal RVSP, no RV dilation

Discussion: In this child with Down’s syndrome and repair of TOF, pulmonary hypertension is likely from multiple etiologies (as mentioned above) but with greatest contribution from underlying pulmonary/airway disease. Persistent severe pulmonary artery hypertension following complete repair of tetralogy of Fallot (TOF) is rare and is less likely the etiology in this patient4.The PH has now resolved with complete normalization of RV function. Therapies contributing to this include: CPAP, pulmonary vasodilators and aggressive treatment of respiratory infections, asthma and hypoxemia. Prevalent data is scarce about optimal endpoint for above therapies5. Future plans include slowly titrating off medications: diuretics, sildenafil then bosentan, in that sequence with continued, careful clinical and echocardiographic surveillance.

1. Shah PS, Hellmann J, Adatia I. Clinical characteristics and follow up of Down syndrome infants without congenital heart disease who presented with persistent pulmonary hypertension of newborn. Journal of perinatal medicine 2004;32:168-70.2. Jacobs IN, Gray RF, Todd NW. Upper airway obstruction in children with Down syndrome. Archives of otolaryngology--head & neck surgery 1996;122:945-50.3. Cua CL, Blankenship A, North AL, Hayes J, Nelin LD. Increased incidence of idiopathic persistent pulmonary hypertension in Down syndrome neonates. Pediatric cardiology 2007;28:250-4.4. Kumar B, Puri GD, Manoj R, Gupta K, Shyam KS. Severe pulmonary artery hypertension following intracardiac repair of tetralogy of Fallot: An unusual finding. Pulmonary circulation 2011;1:115-8.5. Takatsuki S, Ivy DD. Current challenges in pediatric pulmonary hypertension. Seminars in respiratory and critical care medicine 2013;34:627-44.