Pectus Excavatum and Heritable Disorders of the Connective Tissue

Abstract

Pectus excavatum, the most frequent congenital chest wall deformity, may be rarely observed as a sole deformity or as a sign of an underlying connective tissue disorder. To date, only few studies have described correlations between this deformity and heritable connective tissue disorders such as Marfan, Ehlers-Danlos, Poland, MASS (Mitral valve prolapse, not progressive Aortic enlargement, Skeletal and Skin alterations) phenotype among others. When concurring with connective tissue disorder, cardiopulmonary and vascular involvement may be associated to the thoracic defect. Ruling out the concomitance of pectus excavatum and connective tissue disorders, therefore, may have a direct implication both on surgical outcome and long term prognosis. In this review we focused on biological bases of connective tissue disorders which may be relevant to the pathogenesis of pectus excavatum, portraying surgical and clinical implication of their concurrence.

Investigation of clinical and genetic data of pectus excavatum in dysmorphological children: a single-center experience

“…It was previously reported that patients with PE have biochemical and histopathological abnormalities in the costal cartilage and the patients affected from PE show varying degrees of loose connective tissue [7]. In accordance with that, all of our study patients had genetic syndromes that affect the skeletal system.…”

“…The patients are classified in one of 3 categories according to the APGAR score; low (0-3), intermediate (4)(5)(6) or normal (7-10). A low APGAR score at birth is associated with increased risk of neurological diseases, such as cerebral palsy, cognitive disorders or epilepsy [7,8]. We aimed to evaluate the genetic and clinical findings associated with congenital PE.…”

Whole-genome bisulfite sequencing in systemic sclerosis provides novel targets to understand disease pathogenesis

“…Our study pinpointed 238 potential short-range SNP-CpG pairs where the methylation levels were strongly associated with the genotype. As illustrated in Figure 3, differential methylation in FBN3, a gene that codes for extracellular matrix macromolecules responsible for architectural functions in connective tissues [51,52], was associated with a SNP at chr19:8138054 (rs7257948). Similarly, differential methylation in the cell division cycle associated 8 (CDCA8) gene, which plays an important role in mitosis [53] and has been implicated in SSc [54], was associated with a SNP at chr1:38156902 (rs3762352).…”

Chest Pain in Children With Suspected Type I Fibrillinopathy: A Case Report

“…8,9 Furthermore, extensive phenotypic overlapping is observed in the general population, with high prevalence of MVP or skeletal marfanoid disorders 10,11 and so-called MM conditions. 12,13,14 Finally, whereas this latter group shares $1 clinical features with Marfan syndrome, patients may differ in their clinical evolution and prognosis, showing a low risk of aortic/coronary dilation or dissection. 6,7 In summary, the diagnosis of Marfan syndrome may be hindered, particularly in children, and therefore chest pain may be considered a warning sign in this population.…”