Skip to main content
SpringerLink
Log in

Hypoplastic Left Heart Syndrome

  • Chapter
  • First Online:
Clinical and Surgical Aspects of Congenital Heart Diseases

  • 530 Accesses

Abstract

An embryonic heart and a fetal heart are different from the neonatal heart. The heart of the human embryo when 10 mm from crown to rump, it is symmetrical in the sense that the septa formation is in the middle of atria and ventricles. The plane of septa extends from the anterior part of the anterior interventricular sulcus to the posterior part of the atrial septum. In congenital heart defects (CHDs), the position of the heart has a different appearance when seen through ultrasonographic guidance. Such as when the right ventricle is underdeveloped, the cardiac apex has an anterior position, while in the hypoplasia of the left ventricle, the cardiac axis is found to be posterior. Moreover, anatomically and functionally, a left heart is different from the right. The tissues forming the left atrium are smoother, refined, and comprised of narrow and tubular appendages. Similarly, trabeculae carneae of the left ventricle is comprised of a thin and smoother layer, while the fibrous continuum exists in the bicuspid and aortic valves. In the fetal heart, the left atrium is in situ posterior chamber, while the pulmonary vein exists inferiorly and shifts cranially by the start of the 12th week of gestation. It affects 1–8% of all the CVMs. The disease is fatal without surgical intervention, and even in the case of survival, the data and research lack a definite answer on the life span and other associated comorbidities of these patients. Nonetheless, HLHS even after the surgical interventions the survival chances are only 65% until the age of 5 and 55% at the age of 10. This chapter provides a comprehensive overview regarding the anatomy, etiology, epidemiology, genealogy, morphology, pathogenesis, management, and surgical intervention of HLHS.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
eBook
USD 16.99
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 16.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 129.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Similar content being viewed by others

References

  1. Walmsley R, Monkhouse WS. The heart of the newborn child: an anatomical study based upon transverse serial sections. J Anat. 1988;159:93–111.

    CAS  Google Scholar 

  2. Cook AC, Yates RW, Anderson RH. Normal and abnormal fetal cardiac anatomy. Prenat Diagn. 2004;24(13):1032–48.

    Article  Google Scholar 

  3. Moorman A, Webb S, Brown NA, Lamers W, Anderson RH. Development of the heart: (1)∼formation of the cardiac chambers and arterial trunks. Heart. 2003;89(7):806–14.

    Article  Google Scholar 

  4. Crelin ES. Functional anatomy of the newborn. New Haven, CT: Yale University Press; 2005.

    Google Scholar 

  5. Sanchez Vaca F, Bordoni B. Anatomy, thorax, mitral valve. In: Stat Pearls. Treasure Island, FL: StatPearls Publishing; 2021.

    Google Scholar 

  6. McBride KL, Marengo L, Canfield M, Langlois P, Fixler D, Belmont JW. Epidemiology of noncomplex left ventricular outflow tract obstruction malformations (aortic valve stenosis, coarctation of the aorta, hypoplastic left heart syndrome) in Texas, 1999–2001. Birth Defects Res A Clin Mol Teratol. 2005;73(8):555–61.

    Article  CAS  Google Scholar 

  7. Hinton RB Jr, Martin LJ, Tabangin ME, Mazwi ML, Cripe LH, Benson DW. Hypoplastic left heart syndrome is heritable. J Am Coll Cardiol. 2007;50(16):1590–5.

    Article  Google Scholar 

  8. Öhman A, El-Segaier M, Bergman G, Hanséus K, Malm T, Nilsson B, et al. Changing epidemiology of hypoplastic left heart syndrome: results of a national Swedish cohort study. J Am Heart Assoc. 2019;8(2):e010893.

    Article  Google Scholar 

  9. Benson DW, Martin LJ, Lo CW. Genetics of hypoplastic left heart syndrome. J Pediatr. 2016;173:25–31.

    Article  Google Scholar 

  10. Barron DJ, Kilby MD, Davies B, Wright JGC, Jones TJ, Brawn WJ. Hypoplastic left heart syndrome. Lancet. 2009;374(9689):551–64.

    Article  Google Scholar 

  11. Cole CR, Eghtesady P. The myocardial and coronary histopathology and pathogenesis of hypoplastic left heart syndrome. Cardiol Young. 2016;26(1):19–29.

    Article  Google Scholar 

  12. Bruneau B. The developing heart and congenital heart defects: a make or break situation. Clin Genet. 2003;63(4):252–61.

    Article  CAS  Google Scholar 

  13. Crucean A, Alqahtani A, Barron DJ, Brawn WJ, Richardson RV, O’Sullivan J, et al. Re-evaluation of hypoplastic left heart syndrome from a developmental and morphological perspective. Orphanet J Rare Dis. 2017;12(1):138.

    Article  CAS  Google Scholar 

  14. Dasgupta C, Martinez A-M, Zuppan CW, Shah MM, Bailey LL, Fletcher WH. Identification of connexin43 (α1) gap junction gene mutations in patients with hypoplastic left heart syndrome by denaturing gradient gel electrophoresis (DGGE). Mutat Res. 2001;479(1–2):173–86.

    Article  CAS  Google Scholar 

  15. Mahtab EAF, Gittenberger-de Groot AC, Vicente-Steijn R, Lie-Venema H, Rijlaarsdam MEB, Hazekamp MG, et al. Disturbed myocardial connexin 43 and N-cadherin expressions in hypoplastic left heart syndrome and borderline left ventricle. J Thorac Cardiovasc Surg. 2012;144(6):1315–22.

    Article  CAS  Google Scholar 

  16. Esposito G, Butler TL, Blue GM, Cole AD, Sholler GF, Kirk EP, et al. Somatic mutations inNKX2–5,GATA4, andHAND1are not a common cause of tetralogy of Fallot or hypoplastic left heart. Am J Med Genet A. 2011;155(10):2416–21.

    Article  CAS  Google Scholar 

  17. Firulli BA, Toolan KP, Harkin J, Millar H, Pineda S, Firulli AB. The HAND1 frameshift A126FS mutation does not cause hypoplastic left heart syndrome in mice. Cardiovasc Res. 2017;113(14):1732–42.

    Article  CAS  Google Scholar 

  18. Theis JL, Hu JJ, Sundsbak RS, Evans JM, Bamlet WR, Qureshi MY, et al. Genetic association between hypoplastic left heart syndrome and cardiomyopathies. Circ Genom Precis Med. 2021;14(1):e003126.

    Article  CAS  Google Scholar 

  19. Helle E, Pihkala J, Turunen R, Ruotsalainen H, Tuupanen S, Koskenvuo J, et al. Rare variants in genes associated with cardiomyopathy are not common in hypoplastic left heart syndrome patients with myocardial dysfunction. Front Pediatr. 2020;8:596840.

    Article  Google Scholar 

  20. American College of Obstetricians and Gynecologists’ Committee on Practice Bulletins-Obstetrics, Committee on Genetics, Society for Maternal-Fetal Medicine. Practice Bulletin No. 162: Prenatal diagnostic testing for genetic disorders. Obstet Gynecol. 2016;127(5):e108–22.

    Article  Google Scholar 

  21. Donnelly JP, Raffel DM, Shulkin BL, Corbett JR, Bove EL, Mosca RS, et al. Resting coronary flow and coronary flow reserve in human infants after repair or palliation of congenital heart defects as measured by positron emission tomography. J Thorac Cardiovasc Surg. 1998;115(1):103–10.

    Article  CAS  Google Scholar 

  22. Wiles HB. Imaging congenital heart disease. Pediatr Clin N Am. 1990;37(1):115–36.

    Article  CAS  Google Scholar 

  23. Kondo C. Myocardial perfusion imaging in pediatric cardiology. Ann Nucl Med. 2004;18(7):551–61.

    Article  Google Scholar 

  24. Nelson TR, Pretorius DH, Sklansky M, Hagen-Ansert S. Three-dimensional echocardiographic evaluation of fetal heart anatomy and function: acquisition, analysis, and display. J Ultrasound Med 1996;15(1):1–9 quiz 11

    Google Scholar 

  25. Glauser TA, Rorke LB, Weinberg PM, Clancy RR. Acquired neuropathologic lesions associated with the hypoplastic left heart syndrome. Pediatrics. 1990;85(6):991–1000.

    Article  CAS  Google Scholar 

  26. Licht DJ, Wang J, Silvestre DW, Nicolson SC, Montenegro LM, Wernovsky G, et al. Preoperative cerebral blood flow is diminished in neonates with severe congenital heart defects. J Thorac Cardiovasc Surg. 2004;128(6):841–9.

    Article  Google Scholar 

  27. Rai V, Gładki M, Dudyńska M, Skalski J. Hypoplastic left heart syndrome [HLHS]: treatment options in present era. Indian J Thorac Cardiovasc Surg. 2019;35(2):196–202.

    Article  Google Scholar 

  28. Shillingford M, Ceithaml E, Bleiweis M. Surgical considerations in the management of hypoplastic left heart syndrome. Semin Cardiothorac Vasc Anesth. 2013;17(2):128–36.

    Article  Google Scholar 

  29. Alphonso N, Angelini A, Barron DJ, Bellsham-Revell H, Blom NA, Brown K, et al. Guidelines for the management of neonates and infants with hypoplastic left heart syndrome: the European Association for Cardio-Thoracic Surgery (EACTS) and the Association for European Paediatric and Congenital Cardiology (AEPC) Hypoplastic Left Heart Syndrome Guidelines Task Force. Eur J Cardiothorac Surg. 2020;58(3):416–99.

    Article  Google Scholar 

  30. Yabrodi M, Mastropietro CW. Hypoplastic left heart syndrome: from comfort care to long-term survival. Pediatr Res 2017;81(1–2):142–9

    Google Scholar 

  31. Feinstein JA, Benson DW, Dubin AM, Cohen MS, Maxey DM, Mahle WT, et al. Hypoplastic left heart syndrome. J Am Coll Cardiol. 2012;59(1):S1–42.

    Article  Google Scholar 

  32. Ghanayem NS, Jaquiss RDB, Cava JR, Frommelt PC, Mussatto KA, Hoffman GM, et al. Right ventricle-to-pulmonary artery conduit versus Blalock-Taussig shunt: a hemodynamic comparison. Ann Thorac Surg. 2006;82(5):1603–9. discussion 1609-10

    Article  Google Scholar 

  33. Reinhartz O, Reddy VM, Petrossian E, MacDonald M, Lamberti JJ, Roth SJ, et al. Homograft valved right ventricle to pulmonary artery conduit as a modification of the Norwood procedure. Circulation. 2006;114(1 Suppl):I594–9.

    Google Scholar 

  34. Asada S, Yamagishi M, Itatani K, Yaku H. Chimney reconstruction of the aortic arch in the Norwood procedure. J Thorac Cardiovasc Surg. 2017;154(3):e51–4.

    Article  Google Scholar 

  35. Hasegawa T, Oshima Y, Maruo A, Matsuhisa H, Tanaka A, Noda R, et al. Aortic arch geometry after the Norwood procedure: the value of arch angle augmentation. J Thorac Cardiovasc Surg. 2015;150(2):358–66.

    Article  Google Scholar 

  36. Baker CJ, Wells WJ, Derby CA, Rizi S, Starnes VA. Ascending aortic extension for enlargement of the aortopulmonary space in children with pulmonary artery stenosis. Ann Thorac Surg. 2005;80(5):1647–51.

    Article  Google Scholar 

  37. Benck L, Sato T, Kobashigawa J. Molecular diagnosis of rejection in heart transplantation. Circ J [Internet]. 2021; https://doi.org/10.1253/circj.CJ-21-0591.

  38. Shah KS, Kittleson MM, Kobashigawa JA. Updates on heart transplantation. Curr Heart Fail Rep. 2019;16(5):150–6.

    Article  Google Scholar 

  39. Gordon PMK, Khan A, Sajid U, Chang N, Suresh V, Dimnik L, et al. An algorithm measuring donor cell-free DNA in plasma of cellular and solid organ transplant recipients that does not require donor or recipient genotyping. Front Cardiovasc Med. 2016;3:33.

    Article  Google Scholar 

  40. Kobashigawa JA. The future of heart transplantation: the future of heart transplant. Am J Transplant. 2012;12(11):2875–91.

    Article  CAS  Google Scholar 

  41. Chinnock RE, Bailey LL. Heart transplantation for congenital heart disease in the first year of life. Curr Cardiol Rev. 2011;7(2):72–84.

    Article  Google Scholar 

  42. Galantowicz M, Cheatham JP, Phillips A, Cua CL, Hoffman TM, Hill SL, et al. Hybrid approach for hypoplastic left heart syndrome: intermediate results after the learning curve. Ann Thorac Surg. 2008;85(6):2063–70. discussion 2070-1

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Karachi Medical and Dental College, Karachi, Pakistan

    Mahnoor Sukaina

  2. Kabir Medical College, Gandhara University, Peshawar, Pakistan

    Irfan Ullah

Authors
  1. Mahnoor Sukaina
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Irfan Ullah
    View author publications

    You can also search for this author in PubMed Google Scholar

Editor information

Editors and Affiliations

  1. Aristotle University of Thessaloniki, Thessaloniki, Greece

    Georgios Tagarakis

  2. Aarhus University, Aarhus, Denmark

    Ahmed Gheni Sarfan

  3. University of Baghdad, Baghdad, Iraq

    Hashim Talib Hashim

  4. American University of the Caribbean School, Cupecoy, Sint Maarten (Dutch part)

    Joseph Varney

Rights and permissions

Reprints and permissions

Copyright information

© 2023 The Author(s), under exclusive license to Springer Nature Switzerland AG

About this chapter

Check for updates. Verify currency and authenticity via CrossMark

Cite this chapter

Sukaina, M., Ullah, I. (2023). Hypoplastic Left Heart Syndrome. In: Tagarakis, G., Gheni Sarfan, A., Hashim, H.T., Varney, J. (eds) Clinical and Surgical Aspects of Congenital Heart Diseases . Springer, Cham. https://doi.org/10.1007/978-3-031-23062-2_23

Download citation

  • DOI: https://doi.org/10.1007/978-3-031-23062-2_23

  • Published:

  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-031-23061-5

  • Online ISBN: 978-3-031-23062-2

  • eBook Packages: MedicineMedicine (R0)

Publish with us

Policies and ethics

Search

Navigation