Single Ventricle Clinical Presentation

  • Author: Alvin J Chin, MD; Chief Editor: Stuart Berger, MD   more...
 
Updated: Nov 10, 2011
 

History

  • Neonates with single ventricle and subpulmonary stenosis become cyanotic but are usually without other symptoms.
  • Neonates with single ventricle and aortic obstruction may have rapid breathing, lethargy, and poor feeding.
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Physical

  • Cyanosis is present in patients with subpulmonary stenosis.
  • Poor peripheral perfusion is evident in patients with single ventricle with aortic obstruction.
  • If aortic obstruction involves coarctation or interruption, then a difference in blood pressure is observed between the right arm and a lower extremity, unless the right subclavian artery is aberrant.
  • The first heart sound is normal.
  • The second heart sound is frequently single.
  • A systolic ejection murmur is present in those with subpulmonary stenosis as well as those with aortic obstruction.
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Causes

  • The cause of single ventricle in humans is unknown.
  • So far, at least 10 targeted single-gene disruptions in mice have produced a right ventricular (RV) hypoplasia phenotype reminiscent of single left ventricle (LV). These disruptions include global nulls in Nkx2.5;Isl1;[12] Mef2c;[13] dHand (also known as Hand2);[14] Fog-2;[15] Fgf8 hypomorph;[16] Foxh1;[17] TGFβ2;[18] Bop;[19] and Has2.[20] The Fog -2 null also displays a common atrioventricular orifice situated almost entirely over the future LV (ie, common-inlet ventricle). Whether hypomorphic alleles of the homologous mutations in the human produce a single ventricle phenotype but do not result in embryonic lethality remains to be shown.
  • Ventricular-specific misexpression of Tbx5 (as discussed in the Background section[3, 6] ) and myocardial-specific inactivation of GATA4[21] cause single ventricle.
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Contributor Information and Disclosures
Author

Alvin J Chin, MD  Professor of Pediatrics, University of Pennsylvania School of Medicine; Attending Physician, Cardiology Division, Children's Hospital of Philadelphia

Alvin J Chin, MD, is a member of the following medical societies: American Association for the Advancement of Science, American Heart Association, and Society for Developmental Biology

Disclosure: Nothing to disclose.

Specialty Editor Board

Juan Carlos Alejos, MD  Clinical Professor, Department of Pediatrics, Division of Cardiology, University of California, Los Angeles, David Geffen School of Medicine

Juan Carlos Alejos, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, American Heart Association, American Medical Association, and International Society for Heart and Lung Transplantation

Disclosure: Actelion Honoraria Speaking and teaching

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.

Ameeta Martin, MD  Clinical Associate Professor, Department of Pediatric Cardiology, University of Nebraska College of Medicine

Ameeta Martin, MD is a member of the following medical societies: American College of Cardiology

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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Cranially angulated frontal angiogram of an L-looped single left ventricle. Abbreviations are as follows: ao=aorta, mpa=main pulmonary artery, oc=outlet chamber (rudimentary right ventricle).
Long axial oblique-equivalent subcostal echocardiogram of single left ventricle (vent) with narrow communication (unlabeled arrow) between left ventricle and outlet chamber (oc). Abbreviations are as follows: L=left, lav=left atrioventricular valve, P=posterior, rav=right atrioventricular valve, S=superior.
Cardiac MRI. Frontal view of a 3-dimensional flow field in a patient who has undergone a lateral tunnel type of modified Fontan operation (A). This surgical palliation for patients with only one functional ventricle redirects venous blood from the superior vena cava (SVC) and inferior vena cava (IVC) directly into the right (RPA) and left (LPA) pulmonary arteries. Flow streamlines are shown in red. B. Frontal view of in plane velocity mapping. Right (R jug) and left (L jug) jugular vein flow towards the feet is signal-poor (black). Flow toward the head in the infrahepatic inferior vena cava (IVC) and intracardiac portion of the systemic venous pathway (svp) is signal-intense (white). Images courtesy of Dr. Mark A. Fogel, The Children's Hospital of Philadelphia.
A sharp left-right gradient in Tbx5 expression is required for the formation of the ventricular septum. Image from Zina Deretsky, National Science Foundation after Benoit Brueau, the Gladstone Institute of Cardiovascular Disease.
 
 
 
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