Pentalogy of Cantrell

Pentalogy of Cantrell

National Organization for Rare Disorders, Inc.

Important

It is possible that the main title of the report Pentalogy of Cantrell is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • Cantrell pentalogy
  • Cantrell syndrome
  • Cantrell deformity

Disorder Subdivisions

  • None

General Discussion

Pentalogy of Cantrell is a rare disorder that is present at birth (congenital). Pentalogy of Cantrell is characterized by a combination of birth defects. These birth defects can potentially involve the breastbone (sternum), the muscle that separates the chest cavity from the abdomen and aids in breathing (diaphragm), the thin membrane that lines the heart (pericardium), the abdominal wall, and the heart. Pentalogy of Cantrell occurs with varying degrees of severity, potentially causing severe, life-threatening complications. Most infants do not develop all of the potential defects, which may be referred to as incomplete pentalogy of Cantrell. When all five defects are present, this is referred to as complete pentalogy of Cantrell. The variability of the disorder from one individual to another can be significant. The exact cause of pentalogy of Cantrell is unknown. Most cases are believed to occur sporadically.

Symptoms

The specific symptoms and severity of pentalogy of Cantrell can vary dramatically from one person to another. Some infants may have mild defects with incomplete expression of the disorder. Other infants may have serious, life-threatening complications. It is important to note that affected individuals will not have all of the symptoms discussed below. Parents of caregivers of individuals with this condition should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis.



The most severe expression of pentalogy of Cantrell presents at birth with ectopia cordis and omphalocele. Ectopia cordis is a severe condition in which the heart is completely or partially displaced outside of the thoracic cavity and therefore not protected by the chest wall. Ectopia cordis is frequently, but not always associated with pentalogy of Cantrell.



Omphalocele is an abdominal wall defect in which part of an infant's intestines and abdominal organs protrude or stick out through the bellybutton. The intestines and organs are covered by a thin membrane or sac. An omphalocele may be small, in which the intestines protrude, or large, in which both intestines and abdominal organs protrude.



In some cases, omphalocele may not be present. Other forms of abdominal wall defects that can occur in pentalogy of Cantrell include wide separation (diastasis) of certain abdominal muscles or, less frequently, the intestines may protrude through a defect to either side of the umbilical cord (gastroschisis).



Abnormalities affecting the sternum can range from complete absence of the cartilage prominence (xiphoid) at the end of the sternum to complete absence of the sternum. In some cases, the sternum may be cleft or abnormally short.



Defects of the thin membranous, fluid-filled sac that lines the heart (pericardium) may occur in pentalogy of Cantrell, specifically in the lower portion where it meets the diaphragm. Affected infants may also have a hole in the diaphragm allowing the contents of the abdomen to protrude into the chest (congenital diaphragmatic hernia).



Infants with pentalogy of Cantrell can have a wide variety of congenital heart defects including a "hole in the heart" between the two lower chambers (ventricles) of the heart (ventricular septal defects), a "hole in the heart" between the two upper chambers (atria) of the heart (atrial septal defects), abnormal location of the heart on the right side of chest instead of the left (dextrocardia), and tetralogy of Fallot, a condition in which four anatomical defects of the heart occur together. (For more information on these heart defects, choose the specific name as your search term in the Rare Disease Database.) Other complex congenital heart abnormalities may also be identified. The type and severity of congenital heart defects can vary from one infant to another.



The various defects potentially associated with pentalogy of Cantrell can cause a wide variety of serious issues including underdevelopment of the lungs, breathing (respiratory) difficulties, embolism (plugged blood vessel), and impaired function of the heart. Infants with pentalogy of Cantrell are at risk of developing widespread internal infection of the abdominal cavity.



Additional anomalies have been reported in some infants with pentalogy of Cantrell. Such anomalies include cleft lip, cleft palate, malformation (dysplasia) of the kidneys, a fluid-filled mass or sac in the head or neck area (cystic hygroma), limb defects (club feet, absent bones in the arms or legs) and birth defects of the brain and spinal cord (neural tube defects).

Causes

The exact cause of pentalogy of Cantrell is unknown. Most cases occur randomly for no apparent reason (sporadically). One theory suggests that the symptoms of pentalogy of Cantrell occur due to an abnormality in the development of midline embryonic tissue fourteen to eighteen days after conception. Several familial cases have been reported, and some researchers have suggested that genetic factors may play a role in the development of the disorder. More research is necessary to determine the exact, underlying cause(s) of pentalogy of Cantrell.

Affected Populations

Pentalogy of Cantrell affects males and females in equal numbers. The exact prevalence is unknown, but estimated to be 5.5 in 1 million live births. The symptoms of pentalogy of Cantrell are present at birth (congenital).

Standard Therapies

Diagnosis

A diagnosis of pentalogy of Cantrell can often be made before birth (prenatally) sometimes using a fetal ultrasound. An ultrasound is an exam that uses high-frequency sound waves to produce an image of the developing fetus. A fetal ultrasound can detect some of the defects associated with pentalogy of Cantrell. An echocardiography is usually performed to evaluate the extent of the involvement of the heart. An echocardiography is an exam that uses sound waves to produce images of the heart



Magnetic resonance imaging (MRI) may also be performed to assess the degree of certain anomalies such as abdominal wall and pericardial defects. An MRI uses a magnetic field and radio waves to produce cross-sectional images of particular organs and bodily tissues.



Treatment

The treatment of pentalogy of Cantrell is directed toward the specific symptoms that are apparent in each individual. Surgical intervention for cardiac, diaphragmatic and other associated defects is necessary. Affected infants will require complex medical care and may require surgical intervention. In most cases, pentalogy of Cantrell is fatal without surgical intervention. However, in some cases, the defects are so severe that the individual dies regardless of the medical or surgical interventions received.



The specific treatment strategy will vary from one infant to another based upon various factors, including the size and type of abdominal wall defect, the specific cardiac anomalies that are present, and the particular type of ectopia cordis. Surgical procedures that may be required shortly after birth include repair of an omphalocele. At this time, physicians may also attempt to repair certain other defects including defects of the sternum, diaphragm and the pericardium.



In severe cases, some physicians advocate for a staged repair of the defects associated with pentalogy of Cantrell. The initial operation immediately after birth provides separation of the peritoneal and pericardial cavities, coverage of the midline defect and repair of the omphalocele. After appropriate growth of the thoracic cavity and lungs, the second stage consists of the repair of cardiac defects and return of the heart to the chest. Eventually, usually by age 2 or 3, reconstruction of the lower sternum or epigastrium may be necessary.



Other treatment of pentalogy of Cantrell is symptomatic and supportive.

Investigational Therapies

Information on current clinical trials is posted on the Internet at www.clinicaltrials.gov. All studies receiving U.S. government funding, and some supported by private industry, are posted on this government web site.



For information about clinical trials being conducted at the NIH Clinical Center in Bethesda, MD, contact the NIH Patient Recruitment Office:



Toll-free: (800) 411-1222

TTY: (866) 411-1010

Email: prpl@cc.nih.gov



For information about clinical trials sponsored by private sources, in the main, contact:

www.centerwatch.com



Contact for additional information about Pentalogy of Cantrell:



T. Andrew Burrow M.D., FAAP, FACMG

Assistant Professor of Clinical Pediatrics

Cincinnati Children's Hospital Medical Center

Division of Human Genetics

3333 Burnet Avenue

MLC 4006

Cincinnati, Ohio 45229

Telephone: 513-636-9437

Fax: 513-636-7297

References

TEXTBOOKS

Stevenson RE, Hall JG, Eds. Human Malformation and Related Anomalies. 2nd ed. Oxford University Press, New York, NY;2006:1027-1028.



Kjellin IB. Pentalogy of Cantrell. NORD Guide to Rare Disorders. Lippincott Williams & Wilkins. Philadelphia, PA. 2003:233-234.



JOURNAL ARTICLES

Gao Z, Duan QJ, Zhang ZW, Ying LY, Ma LL. Images in cardiovascular medicine: Pentalogy of Cantrell associated with thoracoabdominal ectopia cordis. Circulation. 2009;119:e483-e485.



Gao Z, Duan QJ, Zhang ZW, et al. Prognosis of pentalogy of Cantrell depends mainly on the severity of the intracardiac anomalies and associated malformations. Eur J Pediatr. 2009;168:1413-1414.



Korver AM, Haas F, Freund MW, Strengers JL. Pentalogy of Cantrell: successful early correction. Pediatr Cardiol. 2008;29:146-149.



Halbertsma FJ, van Oort A, van der Staak F. Cardiac diverticulum and omphalocele: Cantrell's pentalogy or syndrome. Cardiol Young. 2002;12:71-74.



Carmi R, Boughman JA. Pentalogy of Cantrell and associated midline anomalies: a possible ventral midline developmental field. Am J Med Genet. 1992;42:90-95.



Martin RA, Cunniff C, Erickson L, Lyons Jones K. Pentalogy of Cantrell and ectopic cordis: a familial developmental field defect. Am J Med Genet. 1992;42:839-841.



FROM THE INTERNET

Genetic and Rare Disease Information Center. Pentalogy of Cantrell. Available at: http://rarediseases.info.nih.gov/GARD/Disease.aspx?diseaseID=7359 Accessed July 30, 2010.



Orphanet encyclopedia. Cantrell Pentalogy. May 2004. Available at: http://www.orpha.net Accessed July 30, 2010.

Resources

March of Dimes Birth Defects Foundation

1275 Mamaroneck Avenue

White Plains, NY 10605

Tel: (914)997-4488

Fax: (914)997-4763

Tel: (888)663-4637

Email: Askus@marchofdimes.com

Internet: http://www.marchofdimes.com



CHERUBS - The Association of Congenital Diaphragmatic Hernia Research, Awareness and Support

3650 Rogers Road, #290

Wake Forest, NC 27587

Tel: (919)610-0129

Fax: (815)425-9155

Tel: (855)234-2229

Email: info@cdhsupport.org

Internet: http://www.cherubs-cdh.org/



NIH/National Institute of Child Health and Human Development

31 Center Dr

Building 31, Room 2A32

MSC2425

Bethesda, MD 20892

Fax: (866)760-5947

Tel: (800)370-2943

TDD: (888)320-6942

Email: NICHDInformationResourceCenter@mail.nih.gov

Internet: http://www.nichd.nih.gov/



Kids With Heart ~ National Association for Children's Heart Disorders, Inc.

1578 Careful Dr.

Green Bay, WI 54304

Tel: (920)498-0058

Fax: (920)498-0058

Tel: (800)538-5390

Email: michelle@kidswithheart.org

Internet: http://www.kidswithheart.org



Birth Defect Research for Children, Inc.

976 Lake Baldwin Lane

Orlando, FL 32814

USA

Tel: (407)895-0802

Email: staff@birthdefects.org

Internet: http://www.birthdefects.org



Congenital Heart Information Network (C.H.I.N.)

P.O. Box 3397

Margate City, NJ 08402-0397

Tel: (609)823-4507

Fax: (609)822-1574

Email: mb@tchin.org

Internet: http://www.tchin.org



Genetic and Rare Diseases (GARD) Information Center

PO Box 8126

Gaithersburg, MD 20898-8126

Tel: (301)251-4925

Fax: (301)251-4911

Tel: (888)205-2311

TDD: (888)205-3223

Internet: http://rarediseases.info.nih.gov/GARD/



Real Hope for CDH Foundation

1171 Vermilion Road

Vermilion, OH 41089

Tel: (216)533-4476

Email: cfirestone@centurytel.net

Internet: http://www.realhopeforcdh.com



Madisons Foundation

PO Box 241956

Los Angeles, CA 90024

Tel: (310)264-0826

Fax: (310)264-4766

Email: getinfo@madisonsfoundation.org

Internet: http://www.madisonsfoundation.org



For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders, Inc.® (NORD). Cigna members can access the complete report by logging into myCigna.com. For non-Cigna members, a copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html.

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