Hypoplastic left heart syndrome

Pubblicato in English fetal cardiology con tag Hypoplastic Left Heart Syndrome in da (aggiornato 3937 giorni fa)

Hypoplastic left heart syndrome(HLHS) refers to the abnormal development of the left-sided
cardiac structures, resulting in obstruction to blood flow from the left ventricular outflow tract. In
addition, the syndrome includes underdevelopment of the left ventricle, aorta, and aortic arch, as
well as mitral atresia or stenosis. HLHS has been reported to occur in approximately 0.016 to
0.036% of all live births. Newborn infants with the condition generally are born at full term and
initially appear healthy. As the arterial duct closes, the systemic perfusion becomes decreased,
resulting in hypoxemia, acidosis, and shock. Usually, no heart murmur, or a non-specific heart
murmur, may be detected. The second heart sound is loud and single because of aortic atresia.
Often the liver is enlarged secondary to congestive heart failure. The embryologic cause of the
disease, as in the case of most congenital cardiac defects, is not fully known. The most useful
diagnostic modality is the echocardiogram. The syndrome can be diagnosed by fetal
echocardiography between 18 and 22 weeks of gestation. Differential diagnosis includes other leftsided
obstructive lesions where the systemic circulation is dependent on ductal flow (critical aortic
stenosis, coarctation of the aorta, interrupted aortic arch). Children with the syndrome require
surgery as neonates, as they have duct-dependent systemic circulation. Currently, there are two
major modalities, primary cardiac transplantation or a series of staged functionally univentricular
palliations. The treatment chosen is dependent on the preference of the institution, its experience,
and also preference. Although survival following initial surgical intervention has improved
significantly over the last 20 years, significant mortality and morbidity are present for both surgical
strategies. As a result pediatric cardiologists continue to be challenged by discussions with families
regarding initial decision relative to treatment, and long-term prognosis as information on longterm
survival and quality of life for those born with the syndrome is limited.

References

  • 1. Lev M: Pathologic anatomy and interrelationship of hypoplasia
    of the aortic tract complexes. Lab Invest 1952, 1(1):61-70.
  • 2. Noonan JA, Nadas AS: The hypoplastic left heart syndrome; an
    analysis of 101 cases. Pediatr Clin North Am 1958, 5(4):1029-1056.
  • 3. Anderson RH, Smith A, Cook AC: Hypoplasia of the left heart.
    Cardiol Young 2004, 14 Suppl 1:13-21.
  • 4. Morris CD, Outcalt J, Menashe VD: Hypoplastic left heart syndrome:
    natural history in a geographically defined population.
    Pediatrics 1990, 85(6):977-983.
  • 5. Samanek M, Voriskova M: Congenital heart disease among
    815,569 children born between 1980 and 1990 and their 15-
    year survival: a prospective Bohemia survival study. Pediatr
    Cardiol 1999, 20(6):411-417.
  • 6. Chameides L, Galioto F, Fyler DC: The Regional Infant Cardiac
    Program. A six year evaluation. Conn Med 1975,
    39(11):709-710.
  • 7. Brownell LG, Shokeir MH: Inheritance of hypoplastic left heart
    syndrome (HLHS): further observations. Clin Genet 1976,
    9(2):245-249.
  • 8. Abbot ME: Atlas of Congenital Cardiac Diseases. New York ,
    American Heart Association; 1936.
  • 9. Boughman JA, Berg KA, Astemborski JA, Clark EB, McCarter RJ,
    Rubin JD, Ferencz C: Familial risks of congenital heart defect
    assessed in a population-based epidemiologic study. Am J Med
    Genet 1987, 26(4):839-849.
  • 10. Edwards WD: Congenital Heart Disease. Edited by: Mosby . St.
    Louis ; 1996.
  • 11. Hazinski MF: Nursing Care of the Critically Ill Child. 2nd edition.
    St. Louis , Mosby; 1992.
  • 12. Freedom RMB L.N.: Heart Disease in Infants, Children, and
    Adolescents. Volume II. 5th edition. Edited by: Adams M. William
    and Wilkins .
  • 13. Natowicz M, Kelley RI: Association of Turner syndrome with
    hypoplastic left-heart syndrome. Am J Dis Child 1987,
    141(2):218-220.
  • 14. Glauser TA, Zackai E, Weinberg P, Clancy R: Holt-Oram syndrome
    associated with the hypoplastic left heart syndrome.
    Clin Genet 1989, 36(1):69-72.
  • 15. Allan LD, Sharland G, Tynan MJ: The natural history of the hypoplastic
    left heart syndrome. Int J Cardiol 1989, 25(3):341-343.
  • 16. Blake DM, Copel JA, Kleinman CS: Hypoplastic left heart syndrome:
    prenatal diagnosis, clinical profile, and management.
    Am J Obstet Gynecol 1991, 165(3):529-534.
  • 17. Quintessenza JA, Morell VO, Jacobs JP: Achieving a balance in the
    current approach to the surgical treatment of hypoplastic
    left heart syndrome. Cardiol Young 2004, 14 Suppl 1:127-130.
  • 18. Connor JA, Arons RR, Figueroa M, Gebbie KM: Clinical outcomes
    and secondary diagnoses for infants born with hypoplastic
    left heart syndrome. Pediatrics 2004, 114(2):e160-5.
  • 19. Morrow WR, Naftel D, Chinnock R, Canter C, Boucek M, Zales V,
    McGiffin DC, Kirklin JK: Outcome of listing for heart transplantation
    in infants younger than six months: predictors of
    death and interval to transplantation. The Pediatric Heart
    Transplantation Study Group. J Heart Lung Transplant 1997,
    16(12):1255-1266.
  • 20. Tabbutt S, Dominguez TE, Ravishankar C, Marino BS, Gruber PJ,
    Wernovsky G, Gaynor JW, Nicolson SC, Spray TL: Outcomes after
    the stage I reconstruction comparing the right ventricular to
    pulmonary artery conduit with the modified Blalock Taussig
    shunt. Ann Thorac Surg 2005, 80(5):1582-90; discussion 1590-1.
  • 21. Maher KO, Pizarro C, Gidding SS, Januszewska K, Malec E, Norwood
    WI Jr., Murphy JD: Hemodynamic profile after the Norwood
    procedure with right ventricle to pulmonary artery conduit.
    Circulation 2003, 108(7):782-784.
  • 22. Pizarro C, Malec E, Maher KO, Januszewska K, Gidding SS, Murdison
    KA, Baffa JM, Norwood WI: Right ventricle to pulmonary artery
    conduit improves outcome after stage I Norwood for hypoplastic
    left heart syndrome. Circulation 2003, 108 Suppl
    1:II155-60.
  • 23. Jonas RA: Comprehensive Surgical Management of Congenital
    Heart Disease. 1st edition. .
  • 24. Sedmera D, Cook AC, Shirali G, McQuinn TC: Current issues and
    perspectives in hypoplasia of the left heart. Cardiol Young 2005,
    15(1):56-72.
  • 25. Boneva RS, Botto LD, Moore CA, Yang Q, Correa A, Erickson JD:
    Mortality associated with congenital heart defects in the
    United States: trends and racial disparities, 1979-1997. Circulation
    2001, 103(19):2376-2381.
  • 26. Gutgesell HP: What if it were your child? Am J Cardiol 2002,
    89(7):856.
  • 27. Kon AA, Ackerson L, Lo B: Choices physicians would make if
    they were the parents of a child with hypoplastic left heart
    syndrome. Am J Cardiol 2003, 91(12):1506-9, A9.
  • 28. Caplan WD, Cooper TR, Garcia-Prats JA, Brody BA: Diffusion of
    innovative approaches to managing hypoplastic left heart
    syndrome. Arch Pediatr Adolesc Med 1996, 150(5):487-490.
  • 29. Wernovsky G, Stiles KM, Gauvreau K, Gentles TL, duPlessis AJ, Bellinger
    DC, Walsh AZ, Burnett J, Jonas RA, Mayer JE Jr., Newburger
    JW: Cognitive development after the Fontan operation. Circulation
    2000, 102(8):883-889.
  • 30. Wernovsky G, Newburger J: Neurologic and developmental
    morbidity in children with complex congenital heart disease.
    J Pediatr 2003, 142(1):6-8.
  • 31. Wernovsky G, Chrisant MR: Long-term follow-up after staged
    reconstruction or transplantation for patients with functionally
    univentricular heart. Cardiol Young 2004, 14 Suppl
    1:115-126.
  • 32. Jacobs ML: Staged reconstructive surgery–the most appropriate
    therapy for hypoplastic left heart syndrome. Cardiol Young
    2004, 14 Suppl 1:105-108.
  • 33. Allen SW, Gauvreau K, Bloom BT, Jenkins KJ: Evidence-based
    referral results in significantly reduced mortality after congenital
    heart surgery. Pediatrics 2003, 112(1 Pt 1):24-28.
  • 34. Allan L, Dangel J, Fesslova V, Marek J, Mellander M, Oberhansli I,
    Oberhoffer R, Sharland G, Simpson J, Sonesson SE: Recommendations
    for the practice of fetal cardiology in Europe. Cardiol
    Young 2004, 14(1):109-114.
  • 35. Allen HD, Davis JT: Standardizing care delivery for infants and
    children with common congenital cardiac lesions. Curr Opin
    Pediatr 1995, 7(5):601-605.
  • 36. Marshall AC, Tworetzky W, Bergersen L, McElhinney DB, Benson
    CB, Jennings RW, Wilkins-Haug LE, Marx GR, Lock JE: Aortic valvuloplasty
    in the fetus: technical characteristics of successful
    balloon dilation. J Pediatr 2005, 147(4):535-539.
  • 37. Marshall AC, van der Velde ME, Tworetzky W, Gomez CA, Wilkins-
    Haug L, Benson CB, Jennings RW, Lock JE: Creation of an atrial
    septal defect in utero for fetuses with hypoplastic left heart
    syndrome and intact or highly restrictive atrial septum. Circulation
    2004, 110(3):253-258.
  • 38. Donner RM: Hypoplastic Left Heart Syndrome. Curr Treat
    Options Cardiovasc Med 2000, 2(6):469-480.
    39. Rogers BT: Considering treatment options for infants with
    hypoplastic left heart syndrome. Acta Paediatr 2000,
    89(9):1029-1031.
  • 40. Osiovich H, Phillipos E, Byrne P, Robertson M: Hypoplastic left
    heart syndrome: “to treat or not to treat”. J Perinatol 2000,
    20(6):363-365.
  • 41. del Rio MJ: Transplantation in complex congenital heart disease.
    2000, 11(2):107-113.
  • 42. Canter CE: Preoperative assessment and management of
    pediatric heart transplantation. 2000, 11(2):91-97.
  • 43. Williams DL, Gelijns AC, Moskowitz AJ, Weinberg AD, Ng JH, Crawford
    E, Hayes CJ, Quaegebeur JM: Hypoplastic left heart syndrome:
    valuing the survival. J Thorac Cardiovasc Surg 2000, 119(4
    Pt 1):720-731.
  • 44. Bauer J, Thul J, Kramer U, Hagel KJ, Akinturk H, Valeske K, Schindler
    E, Bohle RM, Schranz D: Heart transplantation in children and
    infants: short-term outcome and long-term follow-up. Pediatr
    Transplant 2001, 5(6):457-462.
  • 45. Andrews R, Tulloh R, Sharland G, Simpson J, Rollings S, Baker E,
    Qureshi S, Rosenthal E, Austin C, Anderson D: Outcome of staged
    reconstructive surgery for hypoplastic left heart syndrome
    following antenatal diagnosis. Arch Dis Child 2001,
    85(6):474-477.
  • 46. Salmon AP: Hypoplastic left heart syndrome-outcome and
    management. Arch Dis Child 2001, 85(6):450-451.
  • 47. Azakie T, Merklinger SL, McCrindle BW, Van Arsdell GS, Lee KJ, Benson
    LN, Coles JG, Williams WG: Evolving strategies and improving
    outcomes of the modified norwood procedure: a 10-year
    single-institution experience. Ann Thorac Surg 2001,
    72(4):1349-1353.
  • 48. Gutgesell HP, Gibson J: Management of hypoplastic left heart
    syndrome in the 1990s. Am J Cardiol 2002, 89(7):842-846.
  • 49. Andrews R, Tulloh R: Hypoplastic left heart syndrome: diagnosis
    and management. Hosp Med 2002, 63(1):24-27.

    • A complete review to
    Orphanet Journal of Rare Diseases 2007, 2:23doi

    Lascia un commento

    Il tuo indirizzo email non sarà pubblicato.

    Questo sito usa Akismet per ridurre lo spam. Scopri come i tuoi dati vengono elaborati.