The most common congenital deformity of the chest wall is pectus excavatum, a malformation
that is present in between 1 in 400 and 1 in 1000 live births and causes the body
of the sternum to be displaced, producing a depression. There are many different shapes
of the pectus, and multiple factors probably contribute to the final form. The etiology
of pectus excavatum is uncertain, but a familial tendency has been found in clinical
experience, where it may be seen in more than one sibling. Pectus excavatum is commonly
associated with connective tissue disorders such as Marfan and Ehlers Danlos syndromes.
Extensive literature review failed to identify articles documenting families with
multiple affected members.
The purpose of this study was to collect evidence that pectus excavatum is familial
and may be an inherited disorder.
Using the Children's Surgical Specialty Group database at Children's Hospital of The
King's Daughters, families with more than one affected individual were selected. With
Institutional Review Board–approved informed consent, 34 families agreed to participate.
Family histories were obtained, and a 4-generation pedigree was constructed for each
family. Forty questions were asked about each individual's medical history, and comprehensive
systems review included features of connective tissue-related problems. Inheritance
patterns for each family were determined by pedigree analysis.
A total of 14 families suggested autosomal dominant inheritance, 4 families suggested
autosomal recessive inheritance, and 6 families suggested X-linked recessive inheritance.
Ten families had complex inheritance patterns. Pectus excavatum occurred more frequently
in males than in females (1.8:1). Long arms, legs, and fingers; high-arched palate;
mitral valve prolapse; heart arrhythmia; scoliosis; double jointedness; flexibility;
flat feet; childhood myopia; poor healing; and easy bruising were commonly associated
with pectus excavatum.
Pedigree analysis of 34 families provides evidence that pectus excavatum is an inherited
disorder, possibly of connective tissue. Although some families demonstrate apparent
Mendelian inheritance, most appear to be multifactorial.