Muscular Ventricular Septal Defect Clinical Presentation

  • Author: Michael D Taylor, MD, PhD; Chief Editor: Stuart Berger, MD   more...
 
Updated: Nov 1, 2011
 

History

Murmur

Most patients with small muscular ventricular septal defects (VSDs) are asymptomatic and come to medical attention due to the discovery of a systolic murmur. Most murmurs have a delayed presentation in the newborn period, occurring in the first few days to weeks following birth.

At birth, PVR is high, which maintains an elevated right ventricular pressure equal to the left ventricular pressure. As the PVR falls, the developing pressure gradient from the left ventricle to the right ventricle allows high-velocity left-to-right shunting across the muscular VSD, producing the typical holosystolic murmur.

Progression of symptoms

Patients with an isolated, large muscular VSD are typically asymptomatic in the immediate newborn period. As PVR falls, the degree of left-to-right shunting is proportional to the size of the defect and the relative degree of PVR. The larger the VSD and the lower the PVR, the greater is the degree of left-to-right shunting.

Typically, infants with large VSDs present with signs and symptoms of CHF at age 6-8 weeks or later as PVR continues to fall and the degree of left-to-right shunting increases. CHF signs include inadequate weight gain and growth, along with recurrent lower respiratory tract infections in patients with a large VSD without evidence of CHF but with elevated pulmonary artery pressure (>50% systemic pressure) or or a pulmonary artery – to – systemic flow ratio greater than 2:1.

Signs and symptoms of CHF also include poor feeding, tachypnea, tachycardia, sweating (especially after feeding), and lethargy.

Chromosomal anomalies

VSD is the most common congenital heart lesion (20-30%) in infants with chromosomal anomalies or syndromes. Defects may be discovered in the first days of life due to additional diagnostic evaluation to exclude multiple congenital defects.

Next

Physical Examination

Typical physical examination findings are influenced to a significant degree by the size of the ventricular septal defect (VSD) and the degree of left-to-right shunting.

Small VSD

Symptoms of a small VSD (defined as a VSD with a dimension less than half the size of the aortic annulus diameter) include the following:

  • Vital signs and weight gain are normal
  • The precordium is quiet, with a normal apical impulse
  • The first heart sound is normal
  • The second heart sound is typically narrowly split; the pulmonary component may be accentuated
  • A third heart sound is generally not present
  • A palpable thrill may be observed at the middle to lower left sternal border
  • A grade III-VI/VI holosystolic murmur, which widely radiates throughout the precordium, is present along the left sternal border

The intensity of the murmur is inversely proportional to the size of the defect, the left ventricle–to–right ventricle pressure gradient, and the degree of left-to-right shunting. In general, smaller defects produce the loudest murmur.

Systolic murmurs are usually holosystolic but may occasionally be crescendo or crescendo-decrescendo. No diastolic murmur is typically present.

Large VSD

The symptoms of a large VSD (defined as a defect size equal to the diameter of the aortic annulus) are as follows:

  • Poor growth and poor weight gain are common
  • Signs and symptoms of CHF may be present, including tachypnea, tachycardia, sweating, and pallor
  • Hyperdynamic precordium, with or without a precordial bulge secondary to underlying cardiomegaly
  • Abnormal apical impulse with or without right ventricular tap is present; a thrill is uncommon with large VSDs
  • A normal first heart sound and a narrowly split second heart sound with a loud pulmonary component are evident
  • A prominent third heart sound is typically present at the apex, producing a gallop rhythm
  • A II-III/VI holosystolic murmur is maximal at the left sternal border, with wide precordial radiation
  • A diastolic flow rumble may be present at the cardiac apex; this diastolic murmur is caused by a significant left-to-right shunt (at least a 2:1 left-to-right shunt), with excessive flow across a normal-sized mitral annulus
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Contributor Information and Disclosures
Author

Michael D Taylor, MD, PhD  Director, Advanced Imaging Innovation, Cincinnati Children's Hospital Medical Center; Assistant Professor, Department of Pediatrics, University of Cincinnati College of Medicine

Michael D Taylor, MD, PhD is a member of the following medical societies: American College of Cardiology, American Heart Association, and Society for Cardiovascular Magnetic Resonance

Disclosure: Nothing to disclose.

Coauthor(s)

Benjamin W Eidem, MD, FACC, FASE, FAAP  Associate Professor, Divisions of Pediatric Cardiology and Cardiovascular Diseases, Department of Pediatrics, Mayo Clinic College of Medicine

Benjamin W Eidem, MD, FACC, FASE, FAAP is a member of the following medical societies: Alpha Omega Alpha, American Academy of Pediatrics, American College of Cardiology, American Heart Association, American Society of Echocardiography, Society for Pediatric Research, and Society of Pediatric Echocardiography

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.

Additional Contributors

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

Hugh D Allen, MD Professor, Department of Pediatrics, Division of Pediatric Cardiology and Department of Internal Medicine, Ohio State University College of Medicine

Hugh D Allen, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, American Heart Association, American Pediatric Society, American Society of Echocardiography, Society for Pediatric Research, Society of Pediatric Echocardiography, and Western 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.

References

  1. Ramaciotti C, Vetter JM, Bornemeier RA, Chin AJ. Prevalence, relation to spontaneous closure, and association of muscular ventricular septal defects with other cardiac defects. Am J Cardiol. Jan 1 1995;75(1):61-5. [Medline].

  2. Newman TB. Etiology of ventricular septal defects: an epidemiologic approach. Pediatrics. Nov 1985;76(5):741-9. [Medline].

  3. Nicolae MI, Summers KM, Radford DJ. Familial muscular ventricular septal defects and aneurysms of the muscular interventricular septum. Cardiol Young. Oct 2007;17(5):523-7. [Medline].

  4. Williams LJ, Correa A, Rasmussen S. Maternal lifestyle factors and risk for ventricular septal defects. Birth Defects Res A Clin Mol Teratol. Feb 2004;70(2):59-64. [Medline].

  5. Oberlander TF, Warburton W, Misri S, Riggs W, Aghajanian J, Hertzman C. Major congenital malformations following prenatal exposure to serotonin reuptake inhibitors and benzodiazepines using population-based health data. Birth Defects Res B Dev Reprod Toxicol. Feb 2008;83(1):68-76. [Medline].

  6. Reller MD, Strickland MJ, Riehle-Colarusso T, Mahle WT, Correa A. Prevalence of Congenital Heart Defects in Metropolitan Atlanta, 1998-2005. J Pediatr. Jul 25 2008;[Medline].

  7. Kapoor R, Gupta S. Prevalence of congenital heart disease, Kanpur, India. Indian Pediatr. Apr 2008;45(4):309-11. [Medline].

  8. Axt-Fliedner R, Schwarze A, Smrcek J, et al. Isolated ventricular septal defects detected by color Doppler imaging: evolution during fetal and first year of postnatal life. Ultrasound Obstet Gynecol. Mar 2006;27(3):266-73. [Medline].

  9. Bahtiyar MO, Dulay AT, Weeks BP, Friedman AH, Copel JA. Prenatal course of isolated muscular ventricular septal defects diagnosed only by color Doppler sonography: single-institution experience. J Ultrasound Med. May 2008;27(5):715-20. [Medline].

  10. van den Bosch AE, Ten Harkel DJ, McGhie JS, et al. Feasibility and accuracy of real-time 3-dimensional echocardiographic assessment of ventricular septal defects. J Am Soc Echocardiogr. Jan 2006;19(1):7-13. [Medline].

  11. Alsoufi B, Karamlou T, Osaki M, et al. Surgical repair of multiple muscular ventricular septal defects: the role of re-endocardialization strategy. J Thorac Cardiovasc Surg. Nov 2006;132(5):1072-80. [Medline].

  12. Kadner A, Dave H, Dodge-Khatami A, et al. Inferior partial sternotomy for surgical closure of isolated ventricular septal defects in children. Heart Surg Forum. 2004;7(5):E467-70. [Medline].

  13. Amin Z, Cao QL, Hijazi ZM. Closure of muscular ventricular septal defects: Transcatheter and hybrid techniques. Catheter Cardiovasc Interv. Jul 1 2008;72(1):102-11. [Medline].

  14. Aleem IS, Karamlou T, Benson LN, McCrindle BW. Transcatheter device versus surgical closure of ventricular septal defects: a clinical decision analysis. Catheter Cardiovasc Interv. Apr 2006;67(4):630-6. [Medline].

  15. Crossland DS, Wilkinson JL, Cochrane AD, d'Udekem Y, Brizard CP, Lane GK. Initial results of primary device closure of large muscular ventricular septal defects in early infancy using periventricular access. Catheter Cardiovasc Interv. Sep 1 2008;72(3):386-91. [Medline].

  16. Szkutnik M, Kusa J, Bialkowski J. Percutaneous closure of post-traumatic and congenital muscular ventricular septal defects with the Amplatzer Muscular VSD Occluder. Kardiol Pol. Jul 2008;66(7):715-20; discussion 721. [Medline].

  17. Vasilyev NV, Melnychenko I, Kitahori K, et al. Beating-heart patch closure of muscular ventricular septal defects under real-time three-dimensional echocardiographic guidance: a preclinical study. J Thorac Cardiovasc Surg. Mar 2008;135(3):603-9. [Medline].

  18. Crossland DS, Wilkinson JL, Cochrane AD, d'Udekem Y, Brizard CP, Lane GK. Initial results of primary device closure of large muscular ventricular septal defects in early infancy using periventricular access. Catheter Cardiovasc Interv. Sep 1 2008;72(3):386-91. [Medline].

  19. Wilson W, Taubert KA, Gewitz M, et al. Prevention of infective endocarditis: guidelines from the American Heart Association: a guideline from the American Heart Association Rheumatic Fever, Endocarditis, and Kawasaki Disease Committee, Council on Cardiovascular Disease in the Young, and the Council on Clinical Cardiology, Council on Cardiovascular Surgery and Anesthesia, and the Quality of Care and Outcomes Research Interdisciplinary Working Group. Circulation. Oct 9 2007;116(15):1736-54. [Medline].

 
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