Early-Onset Pectus Excavatum Is More Likely to Be Part of a Genetic Variation (original) (raw)
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Advancing our understanding of the inheritance and transmission of pectus excavatum
Journal of pediatric genetics, 2012
Pectus excavatum is the most common congenital chest wall abnormality expressed in children, yet its inheritance is poorly understood. Here we present the first comprehensive assessment of the inheritance of this disorder. After evaluating 48 pedigrees and 56 clinical traits of probands and family members, we find strong evidence of autosomal recessive, genetic control for this disorder. Additionally there is likely more than one pectus disease-associated allele, as well as a relatively large number of disease allele carriers in the human population. Some clinical traits appear important and may serve as reliable indicators for predicting the likelihood of pectus excavatum in children before severe symptoms present. Quantifying sex-ratio bias in probands demonstrates a highly significant male bias associated with pectus excavatum. When combined with pedigree data, sex-bias is indicative of sex-linked, sex-limited, and/or epigenetic control such as X-inactivation, reiterating a point...
Pectus excavatum from a pediatric surgeon’s perspective
Annals of Cardiothoracic Surgery, 2016
Historically, pectus excavatum (PE) was reported to be congenital, but in our experience only 22% are noticed in the first decade of life. Thus far, genetic studies support an autosomal recessive heritability, which coincides with only 40% of our patients having some positive family history, but is also contradictory given a constant sex ratio of 4:1 in favor of males. This inconsistency may be explained by the effect of more than one pectus disease-associated allele. Once the deformity is noticed, it tends to progress slowly until puberty, when rapid progression is often seen. We recommend surgical repair at around 12-14 years of age since the chest wall is still typically flexible and because this allows us to keep the bar in place as the patient progresses through puberty which may help decrease growth-related recurrences. Patients with mild to moderate PE are treated with therapeutic deep breathing, posturing, and aerobic exercises, and in appropriately selected patients, the vacuum bell may also be offered. Patients that have severe symptomatic PE are offered Minimally Invasive Repair of Pectus Excavatum (MIRPE). The surgical technique in children is similar to that of adults, except for the higher forces involved that often necessitate sternal elevation and more involved stabilization strategies. Postoperative management includes pain control, deep breathing, and early ambulation. Exercise restriction is mandatory for the first six weeks with slow resumption of normal activity after 12 weeks.
Pectus Excavatum and MASS Phenotype: An Unknown Association
Journal of Laparoendoscopic & Advanced Surgical Techniques, 2012
Introduction: Severe pectus excavatum (PE) is a deep chest wall deformity that generates both a cosmetic damage and a cardiac/respiratory function impairment. Excluding the scarce reports on Marfan's syndrome (MFS) and Ehlers-Danlos's syndrome (EDS), few studies have examined the relation between severe PE and connective tissue disorders. The aim of this study is to verify the clinical significance of such correlation. Subjects and Methods: Ninety-two consecutive patients, of whom 79 were males, between 6 and 34 years old, classified as having severe PE, were seen at our institution from June 2005 to September 2010. All patients underwent clinical, ophthalmological, cardiac, and radiological (chest and spine magnetic resonance imaging) screening. The following features were observed: skin stretch marks, scoliosis, joint hypermobility, echocardiographic signs, spinal defects, and myopia. Results: Classical connectivopathies such as MFS or EDS were present in only 5 patients (approximately 5%), whereas a single deformity was present in 4. The largest group (approximately 71%) was represented by phenotypical alterations such as mitral valve prolapse, aortic root enlargement, and skeletal and skin alterations (MASS). Among those patients, the most frequent clinical manifestations were the skeletal ones, followed by skin marks and mitral valve prolapse. Conclusions: PE showed an evident association with an array of features that we describe as MASS. Although not one of this subgroup of patients has been described with increased aortic root diameter when screened (a feature widely present in MFS patients), they probably would require a thorough and longer follow-up than those affected by isolated PE because of the potential occurrence of severe cardiovascular complications such as aneurysms and dissection, which are major causes of morbidity and mortality in MFS.
Assessment of children with pectus excavatum without surgical correction
Wiener klinische Wochenschrift, 2018
Objective To assess respiratory function and functional capacity in children with pectus excavatum who followed a physical therapy program, to compare these parameters to healthy controls and to evaluate adherence of this category of patients (pectus excavatum without surgical indications) to a supervised exercise program. Methods This study included 14 children with pectus excavatum and 14 gender and age-matched healthy controls. The study patients performed a 12-week exercise program. They were assessed at the beginning and at the end of rehabilitation by spirometry and functional capacity testing (6-min walk test). Parents of children with pectus excavatum completed a 10item adherence questionnaire.
PLOS ONE, 2020
Background Pectus excavatum is the most common chest wall skeletal deformity. Although commonly evaluated in adolescence, its prevalence in adults is unknown. Methods and findings Radiographic indices of chest wall shape were analyzed for participants of the first (n = 2687) and second (n = 1780) phases of the population-based Dallas Heart Study and compared to clinical cases of pectus (n = 297). Thoracic computed tomography imaging studies were examined to calculate the Haller index, a measure of thoracic axial shape, and the Correction index, which quantitates the posterior displacement of the sternum relative to the ribs. At the level of the superior xiphoid, 0.5%, 5% and 0.4% of adult Dallas Heart Study subjects have evidence of pectus excavatum using thresholds of Haller index >3.25, Correction index >10%, or both, respectively. Radiographic measures of pectus are more common in females than males and there is a greater prevalence of pectus in women than men. In the general population, the Haller and Correction indices are associated with height and weight, independent of age, gender, and ethnicity. Repeat imaging of a subset of subjects (n = 992) demonstrated decreases in the mean Haller and Correction indices over seven years, suggesting change to a more circular axial thorax, with less sternal depression, over time. Conclusions To our knowledge, this is the first study estimating the prevalence of pectus in an unselected adult population. Despite the higher reported prevalence of pectus cases in adolescent boys, this study demonstrates a higher prevalence of radiographic indices of pectus in adult females.
Pectus excavatum and carinatum
European journal of medical genetics, 2014
Pectus excavatum and carinatum are the most common morphological chest wall abnormalities. For both pectus excavatum and carinatum the pathogenesis is largely unknown although various hypotheses exist. Usually, exclusion of an underlying syndromal or connective tissue disorder is the reason for referral for genetic evaluation. A detailed anamnesis and family history are needed as well as a complete dysmorphological physical examination. If no features of an underlying disorder are detected, then the pectus excavatum/carinatum can be considered as an isolated abnormality and no further genetic studies seem indicated. Although cases of non-syndromal pectus excavatum/carinatum with a positive family history fitting Mendelian inheritance have been described, it is possible that these pedigrees represent multifactorial inheritance, as no genetic cause for familial isolated pectus excavatum/carinatum has been described yet. The recurrence risk for a non-familial iolated pectus excavatum/c...