Pediatric Hypoplastic Left Heart Syndrome Clinical Presentation

  • Author: P Syamasundar Rao; Chief Editor: Stuart Berger, MD   more...
 
Updated: Nov 10, 2011
 

Overview

The clinical features of hypoplastic left heart syndrome (HLHS) largely depend on the patency of the ductus arteriosus, the level of pulmonary vascular resistance, and the size of the interatrial communication.

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History

  • Although hypoplastic left heart syndrome can easily be detected on fetal echocardiography,[20] many infants are not identified prenatally because routine obstetric ultrasonography examination may not concentrate on cardiac anatomy. A recent increase in use of routine prenatal ultrasonography and examination by obstetricians of the 4-chamber anatomy of the heart to ensure its normalcy are likely to identify hypoplastic left heart syndrome more frequently than in the past.
  • Pregnancies are typically uncomplicated. The fetus grows and develops normally because the fetal circulation is not significantly altered.[6, 13] Most neonates are born at term and initially appear normal.
  • Occasionally, respiratory symptoms and profound cyanosis are apparent at birth (2-5% of cases). In these infants, significant obstruction to pulmonary venous return (a congenitally small or absent patent foramen ovale) is usually present.
  • As the ductus arteriosus begins to close normally over the first 24-48 hours of life, symptoms of cyanosis, tachypnea, respiratory distress, pallor, lethargy, metabolic acidosis, and oliguria develop. Without intervention to reopen the ductus arteriosus, death rapidly ensues. Similar symptomatology may be expected if a precipitous drop in pulmonary vascular resistance occurs.
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Physical

  • Before the initiation of prostaglandin E1 infusion to reestablish patency of the ductus arteriosus, infants may exhibit signs of cardiogenic shock, including the following:
    • Hypothermia
    • Tachycardia
    • Respiratory distress
    • Central cyanosis and pallor
    • Poor peripheral perfusion with weak pulses in all extremities and in the neck
    • Hepatosplenomegaly
  • After reestablishment of systemic blood flow via the ductus arteriosus, signs of shock resolve, leaving the stable infant with tachycardia, tachypnea, and mild central cyanosis. If a coarctation of the aorta is present, arterial pulses in the legs may be more prominent than those in the arms, particularly the right arm.
  • Cardiac examination findings may include the following:
    • A prominent right ventricular impulse may be noted.
    • A normal first heart sound may be observed.
    • A loud single second heart sound may be present.
    • Usually no murmur is noted; however, the following murmurs may be heard:
      • Nonspecific, soft, systolic ejection murmur at the left sternal border (not always present)
      • High-pitched holosystolic murmur at the lower left sternal border, indicating tricuspid regurgitation (not always present)[3]
      • Diastolic flow rumble over the precordium, indicating increased right ventricular diastolic filling (not always present)
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Causes

  • The exact cause of hypoplastic left heart syndrome is unknown. Although familial cases with autosomal recessive inheritance have been reported,[6] hypoplastic left heart syndrome is generally postulated to follow multifactorial mode of inheritance.[21]
  • Most likely, the primary abnormality occurs during aortic and mitral valve development. During cardiac development, adequate flow of blood through a structure is largely responsible for the growth of that structure. With little or no blood flow because of aortic and mitral valve atresia, growth of the left ventricle does not occur.
  • Similarly, growth of the ascending aorta does not occur because of lack of left ventricular output. The ascending aorta is perfused in retrograde manner from the ductus arteriosus functioning only as a common coronary artery.
  • Premature closure or absence of the foramen ovale represents another theoretical cause of hypoplastic left heart syndrome because it eliminates fetal blood flow from the inferior vena cava to the left atrium.[22] Fetal pulmonary blood flow is not sufficient for normal development of the left atrium, left ventricle, and ascending aorta.
  • Another postulated cause is misalignment of the atrial septum to the left.[23]
  • Recent studies suggest that hypoplastic left heart syndrome is genetically heterogeneous and hypoplastic left heart syndrome and bicuspid aortic valve are genetically related.[24, 25]
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Contributor Information and Disclosures
Author

P Syamasundar Rao  MD, Professor of Pediatrics, Division of Cardiology, University of Texas Medical School at Houston; Director, Division of Pediatric Cardiology, Children's Memorial Hermann Hospital; Professor of Pediatrics, MD Anderson Cancer Center, University of Texas

P Syamasundar Rao is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, American Heart Association, American Medical Association, American Pediatric Society, Medical Association of Georgia, Society for Cardiac Angiography and Interventions, Society for Pediatric Research, Southern Society for Pediatric Research, and Western Society for Pediatric Research

Disclosure: Nothing to disclose.

Coauthor(s)

Daniel R Turner, MD  Associate Professor of Pediatrics, Wayne State University School of Medicine; Consulting Staff, Carman and Ann Adams Department of Pediatrics, Division of Cardiology, Children's Hospital of Michigan

Daniel R Turner, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, and Society for Cardiac Angiography and Interventions

Disclosure: Nothing to disclose.

Thomas J Forbes, MD, FACC, FSCAI  Associate Professor (Clinical-Educator), Director of Catheterization Laboratory, Division of Pediatric Cardiology, Children's Hospital of Michigan, Wayne State University

Thomas J Forbes, MD, FACC, FSCAI is a member of the following medical societies: American College of Cardiology, American Heart Association, and Society of Cardiac Angiography and Interventions

Disclosure: Nothing to disclose.

Specialty Editor Board

Ira H Gessner, MD  Professor Emeritus, Pediatric Cardiology, University of Florida College of Medicine

Ira H Gessner, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, American Heart Association, American Pediatric Society, and Society for Pediatric Research

Disclosure: Nothing to disclose.

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

Julian M Stewart, MD, PhD  Associate Chairman of Pediatrics, Director, Center for Hypotension, Westchester Medical Center; Professor of Pediatrics and Physiology, New York Medical College

Julian M Stewart, MD, PhD is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Nothing to disclose.

Gilbert Z Herzberg, MD  Assistant Professor, Department of Pediatrics, Section of Pediatric Cardiology, New York Medical College; Consulting Staff, Department of Pediatrics, Sound Shore Medical Center

Gilbert Z Herzberg, MD is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Nothing to disclose.

Chief Editor

Stuart Berger, MD  Professor of Pediatrics, Division of Cardiology, Medical College of Wisconsin; Chief of Pediatric Cardiology, Medical Director of Pediatric Heart Transplant Program, Medical Director of The Heart Center, Children's Hospital of Wisconsin

Stuart Berger, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, American College of Chest Physicians, American Heart Association, and Society for Cardiac Angiography and Interventions

Disclosure: Nothing to disclose.

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This echocardiographic still frame shows a long-axis view of the aortic arch in a patient with hypoplastic left heart syndrome (HLHS). The ascending aorta is markedly hypoplastic, serving only to deliver blood in a retrograde fashion to the coronary arteries. An echo-bright coarctation shelf is seen at the insertion of the ductus arteriosus.
This echocardiographic still frame shows a 4-chamber view of the heart in a patient with hypoplastic left heart syndrome (HLHS). A large right ventricle (RV) and hypoplastic left ventricle (star) are seen. Right atrium = RA. Left atrium = LA.
 
 
 
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