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Cardiovascular & Hematological Agents in Medicinal Chemistry

Editor-in-Chief

ISSN (Print): 1871-5257
ISSN (Online): 1875-6182

Case Report

Syncope in a Child with Pulmonary Hypertension and Positive Gene Tests for Hereditary Hemorrhagic Telangiectasia and Long QT Syndrome

Author(s): Bibhuti B. Das* and Kak-Chen Chan

Volume 18, Issue 1, 2020

Page: [70 - 76] Pages: 7

DOI: 10.2174/1871525717666191028102503

Price: $65

Abstract

We present a 10-year-old boy with syncope who was found to have long-QT syndrome and severe Pulmonary Hypertension (PH) both in the absence of a secondary cause; to our knowledge, this is the first report with this unusual coexistence. His genetic tests were positive for hereditary hemorrhagic telangiectasia and Long QT Syndrome (LQTS) without any family history of PH or LQTS. We demonstrated that digital subtraction pulmonary angiography was more useful compared to CT angiogram to demonstrate pulmonary vascular changes which correlated with a noresponse to acute vasoreactivity testing during right heart catheterization. He has been stable for the last 2 years on Ambrisentan, Sildenafil, and Nadolol without recurrence of symptoms.

Keywords: CT angiography, digital subtraction pulmonary angiography, genetic tests, hereditary hemorrhagic telangiectasia, pulmonary hypertension, Long QT Syndrome.

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[1]
Paris, Y.; Toro-Salazar, O.H.; Gauthier, N.S.; Rotondo, K.M.; Arnold, L.; Hamershock, R.; Saudek, D.E.; Fulton, D.R.; Renaud, A.; Alexander, M.E. Regional implementation of a pediatric cardiology syncope algorithm using Standardized Clinical Assessment and Management Plans (SCAMPS) Methodology. J. Am. Heart Assoc., 2016, 5(2), e002931
[http://dx.doi.org/10.1161/JAHA.115.002931] [PMID: 26896480]
[2]
Friedman, K.G.; Alexander, M.E. Chest pain and syncope in children: A practical approach to the diagnosis of cardiac disease. J. Pediatr.,, 2013, 163(3), 896-901.. e1, 3
[http://dx.doi.org/10.1016/j.jpeds.2013.05.001] [PMID: 23769502]
[3]
Berger, R.M.; Beghetti, M.; Humpl, T.; Raskob, G.E.; Ivy, D.D.; Jing, Z.C.; Bonnet, D.; Schulze-Neick, I.; Barst, R.J. Clinical features of paediatric pulmonary hypertension: a registry study. Lancet, 2012, 379(9815), 537-546.
[http://dx.doi.org/10.1016/S0140-6736(11)61621-8] [PMID: 22240409]
[4]
Schwartz, P.J.; Crotti, L. QTc behavior during exercise and genetic testing for the long-QT syndrome. Circulation, 2011, 124(20), 2181-2184.
[http://dx.doi.org/10.1161/CIRCULATIONAHA.111.062182] [PMID: 22083145]
[5]
Faughnan, M.E.; Palda, V.A.; Garcia-Tsao, G.; Geisthoff, U.W.; McDonald, J.; Proctor, D.D.; Spears, J.; Brown, D.H.; Buscarini, E.; Chesnutt, M.S.; Cottin, V.; Ganguly, A.; Gossage, J.R.; Guttmacher, A.E.; Hyland, R.H.; Kennedy, S.J.; Korzenik, J.; Mager, J.J.; Ozanne, A.P.; Piccirillo, J.F.; Picus, D.; Plauchu, H.; Porteous, M.E.; Pyeritz, R.E.; Ross, D.A.; Sabba, C.; Swanson, K.; Terry, P.; Wallace, M.C.; Westermann, C.J.; White, R.I.; Young, L.H.; Zarrabeitia, R. International guidelines for the diagnosis and management of hereditary haemorrhagic telangiectasia. J. Med. Genet., 2011, 48(2), 73-87.
[http://dx.doi.org/10.1136/jmg.2009.069013] [PMID: 19553198]
[6]
Rigelsky, C.M.; Jennings, C.; Lehtonen, R. BMPR2 mutation in a patient with pulmonary arterial hypertension and suspected hereditary hemorrhagic telangiectasia. Am. J. Med. Genet. A., 2008, 146A, 2551-2556.
[7]
Eyries, M.; Coulet, F.; Girerd, B.; Montani, D.; Humbert, M.; Lacombe, P.; Chinet, T.; Gouya, L.; Roume, J.; Axford, M.M.; Pearson, C.E.; Soubrier, F. ACVRL1 germinal mosaic with two mutant alleles in hereditary hemorrhagic telangiectasia associated with pulmonary arterial hypertension. Clin. Genet., 2012, 82(2), 173-179.
[http://dx.doi.org/10.1111/j.1399-0004.2011.01727.x] [PMID: 21651515]
[8]
van Gent, M.W.; Velthuis, S.; Post, M.C.; Snijder, R.J.; Westermann, C.J.; Letteboer, T.G.; Mager, J.J. Hereditary hemorrhagic telangiectasia: How accurate are the clinical criteria? Am. J. Med. Genet. A., 2013, 161A(3), 461-466.
[http://dx.doi.org/10.1002/ajmg.a.35715] [PMID: 23401183]
[9]
Girerd, B.; Montani, D.; Coulet, F.; Sztrymf, B.; Yaici, A.; Jaïs, X.; Tregouet, D.; Reis, A.; Drouin-Garraud, V.; Fraisse, A.; Sitbon, O.; O’Callaghan, D.S.; Simonneau, G.; Soubrier, F.; Humbert, M. Clinical outcomes of pulmonary arterial hypertension in patients carrying an ACVRL1 (ALK1) mutation. Am. J. Respir. Crit. Care Med., 2010, 181(8), 851-861.
[http://dx.doi.org/10.1164/rccm.200908-1284OC] [PMID: 20056902]
[10]
Chang, S.A.; Jang, S.Y.; Ki, C.S.; Kang, I.S.; Kim, D.K. Successful bosentan therapy for pulmonary arterial hypertension associated with hereditary hemorrhagic telangiectasia. Heart Vessels, 2011, 26(2), 231-234.
[http://dx.doi.org/10.1007/s00380-010-0079-z] [PMID: 21132305]
[11]
Bonderman, D.; Nowotny, R.; Skoro-Sajer, N.; Adlbrecht, C.; Lang, I.M. Bosentan therapy for pulmonary arterial hypertension associated with hereditary haemorrhagic telangiectasia. Eur. J. Clin. Invest., 2006, 36(Suppl. 3), 71-72.
[http://dx.doi.org/10.1111/j.1365-2362.2006.01683.x] [PMID: 16919015]
[12]
Sood, S.; Chakinala, M.M. Case studies in hereditary hemorrhagic telangiectasia: Heritable pulmonary arterial hypertension and high output heart failure. Adv. Pulm. Hypertens., 2017, 1, 7-13.
[http://dx.doi.org/10.21693/1933-088X-16.1.7]
[13]
Das, B.B.; Jadotte, M.M.; Mills, J.; Chan, K.C. Digital subtraction pulmonary angiography in children with pulmonary hypertension due to bronchopulmonary dysplasia. Med. Sci., 2019, 7(2), 26.
[http://dx.doi.org/10.3390/medsci7020026]
[14]
Rich, J.D.; Thenappan, T.; Freed, B.; Patel, A.R.; Thisted, R.A.; Childers, R.; Archer, S.L. QTc prolongation is associated with impaired right ventricular function and predicts mortality in pulmonary hypertension. Int. J. Cardiol., 2013, 167(3), 669-676.
[http://dx.doi.org/10.1016/j.ijcard.2012.03.071] [PMID: 22459397]
[15]
Takatsuki, S.; Yanai, S.; Ikehara, S.; Nakayama, T.; Matsuura, H. Clinical effects of syncope on disease severity and adverse outcomes in children with idiopathic and heritable pulmonary arterial hypertension. Pediatr. Cardiol., 2019, 40(1), 215.
[http://dx.doi.org/10.1007/s00246-018-2028-z] [PMID: 30556104]

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