Marfan syndrome

Introduction to the SeriesGenetic disorders have characteristic cardiovascular manifestations. These cardiovascular abnormalities often are a major determinant of the morbidity and mortality in this patient population. Some characteristics are unique and can be detected with echocardiography. Drs Alizad and Seward have compiled in this series a review of genetic disorders that have recognizable morphologic and/or functional cardiovascular abnormalities. The following

sistemas,
especialmente el musculoesquelético, ocular y cardiovascular;
dentro de las anormalidades de este último se habla específicamente
de la disección aórtica. El tratamiento estándar
es la cirugía de Bentall modificada. Ante este panorama se requiere
de profesional de enfermería capacitado con un enfoque
previsor, analítico y juicioso que asegure la atención del paciente
postoperado del corazón. Objetivo: desarrollar un proceso
enfermero con el enfoque conceptual de Virginia Henderson a
una persona con síndrome de Marfan y disección aórtica. Metodología:
Se realizó un estudio de caso clínico, prospectivo
y transversal, con la metodología del Proceso de Atención de
Enfermería, en una institución de alta especialidad cardiovascular
durante el período postoperatorio inmediato y mediato.
Se detectaron las necesidades básicas alteradas a través de un
instrumento de valoración de enfermería cardiovascular con el
enfoque de Virginia Henderson; se formularon diagnósticos de
enfermería reales y de riesgo; se planearon las intervenciones
de enfermería con nivel y grado de recomendación científicas.
Resultados: Necesidades alteradas: oxigenación/circulación,
seguridad y movilidad; los diagnósticos de enfermería desarrollados
fueron riesgo de shock, deterioro del intercambio gaseoso,
disminución del gasto cardíaco, limpieza ineficaz de la vía
aérea, dolor, riesgo de lesión, deterioro de la integridad cutánea
y deterioro de la movilidad física. Conclusión: La aplicación
del Proceso de Atención de Enfermería permite proporcionar
atención de calidad; el cuidado sustentado en evidencia científica
otorgado a la persona coadyuvó para su pronta recuperación
con evolución favorable.
Palabras clave: Síndrome de Marfan, cuidados de enfermería,
cirugía cardiaca/cirugía torácica, diagnóstico de enfermería, rotura
de la aorta.

Though soft tissue disorders have been recognized and described to some detail in several types of domestic animals and small mammals for some years, not much progress has been made in our understanding of the biochemical basis and pathogenesis of these diseases in animals. Ehlers-Danlos syndrome described in dogs already in 1943 and later in cats affects mainly skin in these animals. The involved skin is thin and hyperextensible with easily inflicted injuries resulting in hemorrhagic wounds and atrophic scars. Joint laxity and dislocation common in people are less frequently found in dogs. No systemic complications, such as organ rupture or cardiovascular problems which have devastating consequences in people have been described in cats and dogs. The diagnosis is based on clinical presentation and on light or electron microscopic features of disorganized and fragmented collagen fibrils. Several cases of bovine and ovine dermatosparaxis analogous to human Ehlers-Danlos syndrome type...

Background: Marfan Syndrome (MFS) is a chronic, life-threatening, autosomal dominant connective tissue disorder caused by mutations in the FBN1 gene, coding for fibrillin-1. All organ systems may be affected, but
particularly the cardiovascular system, eyes, and skeleton. Mortality generally results from cardiovascular
complications, mainly aortic dissection. Currently, the diagnosis of MFS is based on the revised Ghent nosology.
Molecular analysis of the FBN1 gene reduces diagnostic uncertainty in patients with suspected MFS or MFSrelated disorders (MFS-RD). To date, more than 2700 FBN1 mutations are known.
Methods: Using Next Generation Sequencing (NGS) followed by Multiplex Ligation-dependent Probe
Amplification on NGS-negative samples, we screened FBN1 gene on 124 unrelated patients (101 MFS fulfilling
revised Ghent criteria, 20 suspected MFS, 3 MFS-RD) enrolled from 2008 to 2018 at the Multidisciplinary Marfan
Clinic, Tor Vergata Hospital, Rome.
Results: An FBN1 variant was identified in 107/124 (86.3%) patients, including 48 novel variants (46 pathogenic/likely pathogenic, 2 VUS). A pathogenic/likely pathogenic variant was detected in 90/101 (89.1%) MFS
patients. Our approach allowed early diagnosis for 10 young patients (age 3–19 years) with suspected MFS.
Conclusions: This study broadens the mutation spectrum of FBN1, providing a full update of the molecular basis
of MFS in Italy

More and more data seem to indicate the presence of an increasing number of syndromes and genetic diseases characterized by impaired bone mass and quality. Meanwhile, the improvement of etiopathogenetic knowledge and the employment of more adequate treatments have generated a significant increase in survival related to these syndromes and diseases. It is thus important to identify and treat bone impairment in these patients in order to assure a better quality of life. This review provides an updated overview of bone pathophysiology and characteristics in patients with Down, Turner, Klinefelter, Marfan, Williams, Prader-Willi, Noonan, and 22q11 deletions syndrome. In addition, some options for the treatment of the bone status impairment in these patients will be briefly discussed.

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...

Snyder–Robinson syndrome (SRS, OMIM 309583) is a rare X-linked syndrome characterized by mental retardation, marfanoid habitus, skeletal defects, osteoporosis, and facial asymmetry. Linkage analysis localized the related gene to Xp21.3–p22.12, and a G-to-A transition at point +5 of intron 4 of the spermine synthase gene, which caused truncation of the SMS protein and loss of enzyme activity, was identified in the original family. Here we describe another family with Snyder–Robinson syndrome in two Mexican brothers and a novel mutation (c.496T>G) in the exon 5 of the SMS gene confirming its involvement in this rare X-linked mental retardation syndrome. © 2009 Wiley-Liss, Inc.