Marfan syndrome (MFS) is a systemic connective tissue disorder that is inherited in an
autosomal dominant pattern with variable penetrance. While clinically this disease manifests …

Cardiomyopathy (CMP) is a rare disease in the pediatric population, with a high risk of
morbidity and mortality. The genetic etiology of CMPs in children is extremely heterogenous …

Background: Pathogenic variants in TGFBR1, TGFBR2 and SMAD3 genes cause Loeys-
Dietz syndrome, and pathogenic variants in FBN1 cause Marfan syndrome. Despite their …

Background Aortic root dilatation and—dissection and mitral valve prolapse are established
cardiovascular manifestations in Marfan syndrome (MFS). Heart failure and arrhythmic …

Background: Marfan syndrome (MFS) is an inherited connective tissue disorder. Pectus
excavatum (PEX) is common in MFS. The purpose was to evaluate the association of PEX …

Genetic aortic diseases are a group of illnesses characterized by aortic aneurysms or
dissection in the presence of an underlying genetic defect. They are part of the broader …

Heritable Thoracic Aortic Disease (HTAD) is caused by mutation of a gene that confers a
high risk for thoracic aortic aneurysms and dissections. Syndromic HTAD are associated …

Background The relationship between genotype and phenotypical vascular and cardiac
properties in paediatric Loeys-Dietz syndrome (LDS) patients are not well characterized …

Elongated and actively secreting MC proteases seemed to construct a functional network
and connect other dermal cells, including fibroblasts, with each other under MFS (Fig. 1 C) …

Patients with Marfan syndrome (MFS) have an increased risk of aortic aneurysm formation,
dissection and development of a subtle cardiomyopathy. We analyzed amino acid and lipid …