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Hypoplastic Left Heart Syndrome

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Critical Care of Children with Heart Disease

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Abstract

Hypoplastic left heart syndrome (HLHS) is the most common severe congenital heart defect comprising 1–2% of all congenital heart defects and 7–9% of all anomalies diagnosed within the first year of life. It is also the most common congenital cardiac malformation involving a single ventricle. It is encountered more frequently in males than in females, with a 67% male predominance. It is a uniformly fatal condition without surgical intervention, and 95% of these infants will have died within the first month of life. In most children with HLHS, the cause of this severe malformation is not known, and multifactorial mode of inheritance is likely for most cases (Freedom RM, Black MD, Benson LN, Moss and Adams Heart Disease in Infants, Children, and Adolescents. Lippincott Williams & Wilkins 1011–1025, 2001). It typically occurs sporadically in otherwise normal infants. In some children, HLHS is known to be genetically determined. These cases may be due to mutations in the GJA1 gene on chromosome 6q22 with autosomal recessive inheritance (HLHS1) or the NKX2-5 gene on chromosome 5q35.1 with autosomal dominant inheritance (HLHS2). Somatic mutations in the HAND1 gene have been identified in tissue samples from patients with HLHS [2, 3]. HLHS has also been reported in association with certain genetic disorders including Turner syndrome, Jacobsen syndrome, trisomy 13, and trisomy 18 (Martinez Crespo et al. Ultrasound Obstet Gynecol 21:490–493, 2003; Ye et al. Hum Mol Genet 19:648–656, 2010; Reis et al. Obstet Gynecol 93(4):532–535, 1999).

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Author information

Authors and Affiliations

  1. Pediatrics and Critical Care Medicine, Cardiac Intensive Care Unit, UPMC Children’s Hospital of Pittsburgh, Pittsburgh, PA, USA

    Yuliya A. Domnina

  2. Division of Pediatric Cardiac Surgery, UPMC Children’s Hospital of Pittsburgh, Pittsburgh, PA, USA

    Evonne Morell

  3. Chief, Division of Cardiac Critical Care Medicine Executive Director, Telemedicine Co-director, Children’s National Heart Institute Professor of Pediatrics, George Washington University School of Medicine Children’s National Health System, Washington, DC, USA

    Ricardo A. Munoz

  4. Division of Adolescent and Young Adult Medicine, Department of Pediatrics, UPMC Children’s Hospital of Pittsburgh, Pittsburgh, PA, USA

    Traci M. Kazmerski

  5. Congenital Heart Center and Department of Pediatrics (Divisions of Pediatric Pulmonology and Pediatric Critical Care Medicine), University of Florida and Shands Healthcare, Gainesville, FL, USA

    Jacqueline Kreutzer

  6. Department of Pediatric Cardiothoracic Surgery, UPMC Children’s Hospital of Pittsburgh, Pittsburgh, PA, USA

    Victor O. Morell

Authors
  1. Yuliya A. Domnina
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  2. Evonne Morell
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  3. Ricardo A. Munoz
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  4. Traci M. Kazmerski
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  5. Jacqueline Kreutzer
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  6. Victor O. Morell
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Corresponding author

Correspondence to Yuliya A. Domnina .

Editor information

Editors and Affiliations

  1. Chief, Division of Cardiac Critical Care Medicine Executive Director, Telemedicine Co-director, Children’s National Heart Institute, Professor of Pediatrics, George Washington University School of Medicine, Children’s National Health System, Washington, DC, USA

    Ricardo A. Munoz

  2. Department of Pediatric Cardiothoracic Surgery, UPMC Children’s Hospital of Pittsburgh, Pittsburgh, PA, USA

    Victor O. Morell

  3. Associate Medical Director, CHCO Heart Institute Head, Pediatric Cardiac Critical Care Program & Inpatient Services Director, Cardiac Intensive Care Unit Children’s Hospital Colorado, Tenured Professor of Pediatrics, Pediatric Cardiology and Intensive Care University of Colorado Denver, School of Medicine, Aurora, CO, USA

    Eduardo M. da Cruz

  4. Department of Pharmacy, Pediatric Critical Care, UPMC Children’s Hospital of Pittsburgh, Pittsburgh, PA, USA

    Carol G. Vetterly

  5. Department of Pediatric Cardiothoracic Surgery, UPMC – Children’s Hospital of Pittsburgh, Pittsburgh, PA, USA

    Jose Pedro da Silva

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Domnina, Y.A., Morell, E., Munoz, R.A., Kazmerski, T.M., Kreutzer, J., Morell, V.O. (2020). Hypoplastic Left Heart Syndrome. In: Munoz, R., Morell, V., da Cruz, E., Vetterly, C., da Silva, J. (eds) Critical Care of Children with Heart Disease . Springer, Cham. https://doi.org/10.1007/978-3-030-21870-6_29

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  • DOI: https://doi.org/10.1007/978-3-030-21870-6_29

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