Vol 92, No 4 (2021)
Research paper
Published online: 2021-01-26
Hypoplastic left heart syndrome: from the prenatal to the postnatal period
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Abstract
Objectives: To analyse a population of foetuses with prenatally diagnosed hypoplastic left heart syndrome (HLHS). Material and methods: Retrospective study of foetuses diagnosed with HLHS between 2013 and 2017 in a referral centre. Results: HLHS was found in 9.7% (65/665) of foetuses with cardiovascular abnormalities (CVA). As an isolated anomaly, HLHS was present in 40% of cases; in 24.5% other CVA were detected; in 14%, CVA and extracardiac anomalies; and in 21.5% only extracardiac malformations. Genetic disorders were present in 18.4% (12/65) of foetuses. 42% of cardiovascular and 25% of extracardiac anomalies were diagnosed postnatally. There were 10 (15.4%) elective terminations, 1 (1.5%) spontaneous foetal demise. Two newborns died after birth before surgery. Of the 52 children who underwent Norwood surgery, 13 (25%) died (9 with additional anomalies, and 4 with isolated HLHS). Of the 38 children who underwent stage II surgery, 2 (5.2%) with isolated HLHS died, and 1 (2.6%) with CVA. Conclusions: A diagnosis of HLHS is an indication for a detailed examination of cardiac and noncardiac structures. It is advisable to consider genetic testing, together with the microarray assessment. The prognosis depends on underlying cardiac and extracardiac anomalies and coexisting genetic defects.
Keywords: foetushypoplastic left heart syndromeoutcomeprenatalpostnatal
References
- Simpson JM. Hypoplastic left heart syndrome. Ultrasound Obstet Gynecol. 2000; 5: 271–278.
- van Velzen CL, Clur SA, Rijlaarsdam MEB, et al. Prenatal detection of congenital heart disease--results of a national screening programme. BJOG. 2016; 123(3): 400–407.
- Natowicz M, Chatten J, Clancy R, et al. Genetic disorders and major extracardiac anomalies associated with the hypoplastic left heart syndrome. Pediatrics. 1988; 82(5): 698–706.
- Galindo A, Nieto O, Villagrá S, et al. Hypoplastic left heart syndrome diagnosed in fetal life: associated findings, pregnancy outcome and results of palliative surgery. Ultrasound Obstet Gynecol. 2009; 33(5): 560–566.
- Song MS, Hu A, Dyamenahalli U, et al. Extracardiac lesions and chromosomal abnormalities associated with major fetal heart defects: comparison of intrauterine, postnatal and postmortem diagnoses. Ultrasound Obstet Gynecol. 2009; 33(5): 552–559.
- Lambert EC, Canent RV, Hohn AR. Congenital cardiac anomalies in the newborn. A review of conditions causing death or severe distress in the first month of life. Pediatrics. 1966; 37(2): 343–351.
- Gillum RF. Epidemiology of congenital heart disease in the United States. Am Heart J. 1994; 127(4 Pt 1): 919–927.
- Breymann T, Kirchner G, Blanz U, et al. Results after Norwood procedure and subsequent cavopulmonary anastomoses for typical hypoplastic left heart syndrome and similar complex cardiovascular malformations. Eur J Cardiothorac Surg. 1999; 16(2): 117–124.
- Mahle WT, Spray TL, Wernovsky G, et al. Survival after reconstructive surgery for hypoplastic left heart syndrome: A 15-year experience from a single institution. Circulation. 2000; 102(19 Suppl 3): III136–III141.
- Azakie T, Merklinger SL, McCrindle BW, et al. Evolving strategies and improving outcomes of the modified norwood procedure: a 10-year single-institution experience. Ann Thorac Surg. 2001; 72(4): 1349–1353.
- Pigula FA, Vida V, Del Nido P, et al. Contemporary results and current strategies in the management of hypoplastic left heart syndrome. Semin Thorac Cardiovasc Surg. 2007; 19(3): 238–244.
- Słodki M, Respondek-Liberska M. [Proposal of screening fetal heart examination form granted by Polish Ministry of Health Program Kardio-Prenatal 2008]. Ginekol Pol. 2009; 80(6): 466–470.
- Sekcja Ultrasonografii Polskiego Towarzystwa Ginekologicznego. [Polish Gynecological Society--Ultrasound Section Guidelines on ultrasound screening in uncomplicated pregnancy (2 December 2011)]. Ginekol Pol. 2012; 83(4): 309–315.
- Slodki M, Szymkiewicz-Dangel J, Tobota Z, et al. The Polish National Registry for Fetal Cardiac Pathology: organization, diagnoses, management, educational aspects and telemedicine endeavors. Prenat Diagn. 2012; 32(5): 456–460.
- Carvalho JS, Allan LD, Chaoui R, et al. ISUOG Practice Guidelines (updated): sonographic screening examination of the fetal heart. Ultrasound Obstet Gynecol. 2013; 41(3): 348–359.
- Kiserud T, Rasmussen S. Ultrasound assessment of the fetal foramen ovale. Ultrasound Obstet Gynecol. 2001; 17(2): 119–124.
- Taketazu M, Barrea C, Smallhorn JF, et al. Intrauterine pulmonary venous flow and restrictive foramen ovale in fetal hypoplastic left heart syndrome. J Am Coll Cardiol. 2004; 43(10): 1902–1907.
- Chintala K, Tian Z, Du W, et al. Fetal pulmonary venous Doppler patterns in hypoplastic left heart syndrome: relationship to atrial septal restriction. Heart. 2008; 94(11): 1446–1449.
- Pandya PP, Snijders RJ, Johnson SP, et al. Screening for fetal trisomies by maternal age and fetal nuchal translucency thickness at 10 to 14 weeks of gestation. Br J Obstet Gynaecol. 1995; 102(12): 957–962.
- Hyett J, Perdu M, Sharland G, et al. Using fetal nuchal translucency to screen for major congenital cardiac defects at 10-14 weeks of gestation: population based cohort study. BMJ. 1999; 318(7176): 81–85.
- Atzei A, Gajewska K, Huggon IC, et al. Relationship between nuchal translucency thickness and prevalence of major cardiac defects in fetuses with normal karyotype. Ultrasound Obstet Gynecol. 2005; 26(2): 154–157.
- Rychik J, Szwast A, Natarajan S, et al. Perinatal and early surgical outcome for the fetus with hypoplastic left heart syndrome: a 5-year single institutional experience. Ultrasound Obstet Gynecol. 2010; 36(4): 465–470.
- McElhinney DB, Marshall AC, Wilkins-Haug LE, et al. Improved surgical outcome after fetal diagnosis of hypoplastic left heart syndrome. Circulation. 2001; 103(9): 1269–1273.
- Weber RW, Stiasny B, Ruecker B, et al. Prenatal Diagnosis of Single Ventricle Physiology Impacts on Cardiac Morbidity and Mortality. Pediatr Cardiol. 2019; 40(1): 61–70.
- Marek J, Tomek V, Skovránek J, et al. Prenatal ultrasound screening of congenital heart disease in an unselected national population: a 21-year experience. Heart. 2011; 97(2): 124–130.
- Verheijen PM, Lisowski LA, Stoutenbeek P, et al. Prenatal diagnosis of congenital heart disease affects preoperative acidosis in the newborn patient. J Thorac Cardiovasc Surg. 2001; 121(4): 798–803.
- Pruetz JD, Carroll C, Trento LU, et al. Outcomes of critical congenital heart disease requiring emergent neonatal cardiac intervention. Prenat Diagn. 2014; 34(12): 1127–1132.
- Thakur V, Munk N, Mertens L, et al. Does prenatal diagnosis of hypoplastic left heart syndrome make a difference? - A systematic review. Prenat Diagn. 2016; 36(9): 854–863.
- Mahle WT, Clancy RR, McGaurn SP, et al. Impact of prenatal diagnosis on survival and early neurologic morbidity in neonates with the hypoplastic left heart syndrome. Pediatrics. 2001; 107(6): 1277–1282.
- Brackley KJ, Kilby MD, Wright JG, et al. Outcome after prenatal diagnosis of hypoplastic left-heart syndrome: a case series. Lancet. 2000; 356(9236): 1143–1147.
- Rasiah SV, Ewer AK, Miller P, et al. Antenatal perspective of hypoplastic left heart syndrome: 5 years on. Arch Dis Child Fetal Neonatal Ed. 2008; 93(3): F192–F197.
- Tweddell JS, Hoffman GM, Mussatto KA, et al. Improved survival of patients undergoing palliation of hypoplastic left heart syndrome: lessons learned from 115 consecutive patients. Circulation. 2002; 106(12 Suppl 1): I82–I89.
- Hehir DA, Dominguez TE, Ballweg JA, et al. Risk factors for interstage death after stage 1 reconstruction of hypoplastic left heart syndrome and variants. J Thorac Cardiovasc Surg. 2008; 136(1): 94–9, 99.e1.
- Allan LD, Apfel HD, Printz BF. Outcome after prenatal diagnosis of the hypoplastic left heart syndrome. Heart. 1998; 79(4): 371–373.
- Jadczak A, Respondek-Liberska M, Sokołowski Ł, et al. International Prenatal Cardiology Collaboration Group. Hypoplastic left heart syndrome with prenatally diagnosed foramen ovale restriction: diagnosis, management and outcome. J Matern Fetal Neonatal Med. 2020 [Epub ahead of print]: 1–8.
- Verheijen PM, Lisowski LA, Plantinga RF, et al. Prenatal diagnosis of the fetus with hypoplastic left heart syndrome management and outcome. Herz. 2003; 28(3): 250–256.
- Tennstedt C, Chaoui R, Körner H, et al. Spectrum of congenital heart defects and extracardiac malformations associated with chromosomal abnormalities: results of a seven year necropsy study. Heart. 1999; 82(1): 34–39.
- Reis PM, Punch MR, Bove EL, et al. Obstetric management of 219 infants with hypoplastic left heart syndrome. Am J Obstet Gynecol. 1998; 179(5): 1150–1154.
- Jansen FAR, Hoffer MJV, van Velzen CL, et al. Chromosomal abnormalities and copy number variations in fetal left-sided congenital heart defects. Prenat Diagn. 2016; 36(2): 177–185.
