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Pedigree analysis and descriptive investigation of three classic phenotypes associated with Holt-Oram syndrome

Rainer Lehner1, Nima Goharkhay, Barbara Tringler

  • 1Departments of Obstetrics and Gynecology and of Prenatal Diagnosis, University of Vienna, Vienna, Austria.

The Journal of Reproductive Medicine
|April 18, 2003
PubMed

Insights

Holt-Oram syndrome (HOS) is predominantly familial, with 82.7% of cases being inherited. While skeletal and cardiac anomalies occur together in most HOS patients, isolated cardiac defects are rare in sporadic cases.

Area of Science:

  • Genetics and Developmental Biology
  • Cardiology
  • Orthopedics

Background:

  • Holt-Oram syndrome (HOS) is a genetic disorder characterized by congenital heart defects and upper limb abnormalities.
  • Understanding the inheritance patterns and clinical variations of HOS is crucial for diagnosis and management.

Purpose of the Study:

  • To determine the frequency of sporadic versus familial cases of Holt-Oram syndrome.
  • To analyze the prevalence of different clinical phenotypes within HOS.

Main Methods:

  • A literature review of 179 reported patients with Holt-Oram syndrome.
  • Analysis of case data to categorize HOS into sporadic and familial types.
  • Classification of HOS phenotypes based on skeletal and cardiac anomalies.

Main Results:

  • The majority of Holt-Oram syndrome cases (82.7%) are familial, with only 17.3% being sporadic.
  • The most common phenotype involves both skeletal and cardiac anomalies (68.7%).
  • Isolated cardiac defects were not observed in sporadic HOS cases.

Conclusions:

  • Holt-Oram syndrome exhibits autosomal dominant inheritance, with near-equal sex distribution.
  • The absence of isolated cardiac defects in sporadic HOS suggests distinct pathogenetic mechanisms or diagnostic criteria.
  • Screening family members for HOS is recommended when cardiac malformations are identified.
Abstract

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