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Variation in severity of cardiac disease in Holt-Oram syndrome.
Am J Med Genet 1996; 65(2):128-32AJ

Abstract

We describe a family with Holt-Oram syndrome (HOS) with variable hand and cardiac manifestations. One affected relative had complex congenital malformations of the heart consisting of an endocardial cushion defect and hypoplasia of the left ventricle. The literature from 1974 to 1995 is reviewed. Atrial septal defect is the most cardiac abnormality (60.3% of 189 cases) occurring singly or in combination with other malformations. Thirty-three individuals (17.5%) of literature cases) have more complex congenital malformations of the heart requiring complicated medical management and extensive cardiac surgery. Many genetic reference sources of HOS indicate that single or less severe cardiac malformations are expected in this disorder. It is important to provide more information about the occurrence and spectrum of severity of malformations of the heart to individuals and families where HOS is present.

Authors+Show Affiliations

Ray and Hattie Anderson Center for the study of Hereditary Cardiac Disease, Department of Pediatrics, University-Variety Hospital for Children, University of Minnesota, Minneapolis, USA.No affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Review

Language

eng

PubMed ID

8911604

Citation

Sletten, L J., and M E. Pierpont. "Variation in Severity of Cardiac Disease in Holt-Oram Syndrome." American Journal of Medical Genetics, vol. 65, no. 2, 1996, pp. 128-32.
Sletten LJ, Pierpont ME. Variation in severity of cardiac disease in Holt-Oram syndrome. Am J Med Genet. 1996;65(2):128-32.
Sletten, L. J., & Pierpont, M. E. (1996). Variation in severity of cardiac disease in Holt-Oram syndrome. American Journal of Medical Genetics, 65(2), pp. 128-32.
Sletten LJ, Pierpont ME. Variation in Severity of Cardiac Disease in Holt-Oram Syndrome. Am J Med Genet. 1996 Oct 16;65(2):128-32. PubMed PMID: 8911604.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Variation in severity of cardiac disease in Holt-Oram syndrome. AU - Sletten,L J, AU - Pierpont,M E, PY - 1996/10/16/pubmed PY - 2000/6/20/medline PY - 1996/10/16/entrez SP - 128 EP - 32 JF - American journal of medical genetics JO - Am. J. Med. Genet. VL - 65 IS - 2 N2 - We describe a family with Holt-Oram syndrome (HOS) with variable hand and cardiac manifestations. One affected relative had complex congenital malformations of the heart consisting of an endocardial cushion defect and hypoplasia of the left ventricle. The literature from 1974 to 1995 is reviewed. Atrial septal defect is the most cardiac abnormality (60.3% of 189 cases) occurring singly or in combination with other malformations. Thirty-three individuals (17.5%) of literature cases) have more complex congenital malformations of the heart requiring complicated medical management and extensive cardiac surgery. Many genetic reference sources of HOS indicate that single or less severe cardiac malformations are expected in this disorder. It is important to provide more information about the occurrence and spectrum of severity of malformations of the heart to individuals and families where HOS is present. SN - 0148-7299 UR - https://www.unboundmedicine.com/medline/citation/8911604/Variation_in_severity_of_cardiac_disease_in_Holt_Oram_syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0148-7299&date=1996&volume=65&issue=2&spage=128 DB - PRIME DP - Unbound Medicine ER -