Your browser doesn't support javascript.
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 1.225
Filtrar
3.
Dent Med Probl ; 56(3): 307-310, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31577075

RESUMO

The Shprintzen-Goldberg syndrome (SGS) is an autosomal dominant disorder with multiple congenital abnormalities. It is the result of de novo gene mutations. Recently, mutations in the SKI gene are considered to be related to this syndrome. This gene is responsible for the manufacturing of protein which regulates the transforming growth factor beta (TGF-ß) signaling pathway. There are characteristic craniofacial, skeletal, neurological, and connective tissue abnormalities associated with SGS. This is a case report of a 6-year-old male child who reported to the Department of Pediatric Dentistry at the Government Dental College and Hospital, Aurangabad, India, with decayed teeth. He had craniofacial, skeletal, cardiovascular, and other abnormalities suggestive of SGS. The patient had a tall forehead with plagiocephaly and a high-arched palate with hypoplastic teeth. His ears were apparently low-set with posterior rotation. The child had eyes with proptosis, myopia, hypertelorism, and down-slanting palpebral fissures. The child had moderate mental retardation with craniofacial features typical of this syndrome. The Shprintzen-Goldberg syndrome has many similarities with the Marfan syndrome (MFS) or the Loeys-Dietz syndrome (LDS) due to considerable phenotypic overlapping.


Assuntos
Aracnodactilia , Craniossinostoses , Síndrome de Marfan , Plagiocefalia , Aracnodactilia/diagnóstico , Criança , Craniossinostoses/diagnóstico , Humanos , Índia , Masculino , Síndrome de Marfan/diagnóstico , Plagiocefalia/diagnóstico
6.
Horm Res Paediatr ; 91(5): 293-310, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31302655

RESUMO

Tall stature and/or accelerated growth (TS/AG) in a child can be the result of a primary or secondary growth disorder, but more frequently no cause can be found (idiopathic TS). The conditions with the most important therapeutic implications are Klinefelter syndrome, Marfan syndrome and secondary growth disorders such as precocious puberty, hyperthyroidism and growth hormone excess. We propose a diagnostic flow chart offering a systematic approach to evaluate children referred for TS/AG to the general paediatrician. Based on the incidence, prevalence and clinical features of medical conditions associated with TS/AG, we identified relevant clues for primary and secondary growth disorders that may be obtained from the medical history, physical evaluation, growth analysis and additional laboratory and genetic testing. In addition to obtaining a diagnosis, a further goal is to predict adult height based on growth pattern, pubertal development and skeletal maturation. We speculate that an improved diagnostic approach in addition to expanding use of genetic testing may increase the diagnostic yield and lower the age at diagnosis of children with a pathologic cause of TS/AG.


Assuntos
Acromegalia/diagnóstico , Transtornos do Crescimento/diagnóstico , Puberdade Precoce/diagnóstico , Acromegalia/etiologia , Criança , Pré-Escolar , Feminino , Transtornos do Crescimento/etiologia , Humanos , Hipertireoidismo/complicações , Hipertireoidismo/diagnóstico , Síndrome de Klinefelter/complicações , Síndrome de Klinefelter/diagnóstico , Masculino , Síndrome de Marfan/complicações , Síndrome de Marfan/diagnóstico , Puberdade Precoce/etiologia
7.
Semin Thorac Cardiovasc Surg ; 31(4): 818-825, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31233783

RESUMO

Patients with Marfan syndrome (MFS) often require surgical intervention on the mitral valve (MV), aortic root or valve (AV), or thoracic aorta (TA) during childhood and adolescence. We aim to utilize a national database to evaluate outcomes in pediatric and young adult patients with MFS undergoing MV, AV, and aortic surgical procedures, and describe factors associated with increased mortality. The Pediatric Hospital Information System (PHIS) database, a multi-institutional administrative database of 48 pediatric hospitals, was queried for patients less than 25 years of age with a diagnosis of MFS (ICD-9 759.82) who underwent MV, AV, or thoracic aortic surgery between January 2004 and October 2015. We assessed comorbidities and complications, and performed univariate analysis to evaluate factors associated with inpatient mortality. Included were 321 hospital encounters in 294 patients. Fifty-one patients underwent 54 MV surgeries, 213 patients underwent 224 aortic/AV surgeries, and 43 patients underwent both MV and aortic/AV surgery in the same encounter. Postoperative complications were common for all surgeries (46.3% for MV procedures and 45.5% for aortic/AV procedures). Overall in-hospital mortality was 2.2% (3.7% for MV procedures, 1.8% for AV/aortic procedures, and 2.3% in the combined MV and aortic/AV procedure group). Aortic dissection or rupture was reported in 3.4%, with no in-hospital mortalities. Death after MV as well as after aortic/AV surgery was associated with younger age. Postoperative complications are common in pediatric and young adult patients with MFS after intervention on the MV, AV, and TA, although mortality is relatively low.


Assuntos
Aorta Torácica/cirurgia , Aneurisma da Aorta Torácica/cirurgia , Valva Aórtica/cirurgia , Doenças das Valvas Cardíacas/cirurgia , Implante de Prótese de Valva Cardíaca , Síndrome de Marfan/epidemiologia , Anuloplastia da Valva Mitral , Valva Mitral/cirurgia , Procedimentos Cirúrgicos Vasculares , Adolescente , Fatores Etários , Aorta Torácica/diagnóstico por imagem , Aneurisma da Aorta Torácica/diagnóstico por imagem , Aneurisma da Aorta Torácica/mortalidade , Valva Aórtica/diagnóstico por imagem , Criança , Pré-Escolar , Bases de Dados Factuais , Feminino , Doenças das Valvas Cardíacas/diagnóstico por imagem , Doenças das Valvas Cardíacas/mortalidade , Implante de Prótese de Valva Cardíaca/efeitos adversos , Implante de Prótese de Valva Cardíaca/mortalidade , Mortalidade Hospitalar , Humanos , Lactente , Masculino , Síndrome de Marfan/diagnóstico , Síndrome de Marfan/mortalidade , Valva Mitral/diagnóstico por imagem , Anuloplastia da Valva Mitral/efeitos adversos , Anuloplastia da Valva Mitral/mortalidade , Complicações Pós-Operatórias/mortalidade , Medição de Risco , Fatores de Risco , Fatores de Tempo , Resultado do Tratamento , Estados Unidos , Procedimentos Cirúrgicos Vasculares/efeitos adversos , Procedimentos Cirúrgicos Vasculares/mortalidade , Adulto Jovem
8.
J Card Surg ; 34(9): 875-876, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31233233

RESUMO

Cardiovascular diseases represent the leading cause of mortality in patients with Marfan syndrome. Many treatments have been developed for patients with end-stage heart failure, among which orthotopic heart transplantation remains the gold standard. We report a successful orthotopic heart transplantation for a Marfan syndrome patient in end-stage heart failure.


Assuntos
Insuficiência Cardíaca/cirurgia , Transplante de Coração/métodos , Síndrome de Marfan/cirurgia , Adulto , Feminino , Insuficiência Cardíaca/etiologia , Insuficiência Cardíaca/fisiopatologia , Humanos , Síndrome de Marfan/complicações , Síndrome de Marfan/diagnóstico , Tomografia Computadorizada por Raios X , Resultado do Tratamento , Função Ventricular Direita/fisiologia
9.
J Coll Physicians Surg Pak ; 29(6): S41-S42, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31142417

RESUMO

The Shprintzen-Goldberg syndrome (SGS) or velo-cardio-facial syndrome (VCFS) is an extremely rare disorder of connective tissue with a characteristic facial dysmorphism, marfanoid features, craniosynostosis, dolichocephaly, cardiovascular anomalies and mild to moderate mental retardation. It may be a de novo gene mutation or inherited as an autosomal dominant disorder having SKI gene and Fibrillin-1 gene (FBN1) mutations, located on chromosome 15q21.1. We report a case of a 3-month, developmentally delayed male infant admitted to the hospital with syndromic facies, craniosynostosis, joint laxity and on echocardiography, aortic root dilatation. A probable diagnosis of SGS was made on the clinical grounds. We did not have the facility for genetic chromosomal analysis. He was discharged with family counselling and follow-up for future developmental rehabilitation.


Assuntos
Anormalidades Múltiplas/genética , Aracnodactilia/diagnóstico , Craniossinostoses/diagnóstico , Síndrome de DiGeorge/diagnóstico , Síndrome de Marfan/diagnóstico , Anorexia , Caquexia , Consanguinidade , Ecocardiografia , Anormalidades do Olho , Facies , Tórax em Funil , Humanos , Lactente , Instabilidade Articular , Masculino , Hipotonia Muscular , Doenças Raras , Dermatopatias
10.
Biochem Pharmacol ; 164: 53-63, 2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-30926475

RESUMO

Marfan syndrome (MFS) is an autosomal dominant genetic disorder caused by mutations in the fibrillin-1 gene. Acute aortic dissection is the leading cause of death in patients suffering from MFS and consequence of medial degeneration and aneurysm formation. In addition to its structural function in the formation of elastic fibers, fibrillin has a major role in keeping maintaining transforming growth factor ß (TGF-ß) in an inactive form. Dysfunctional fibrillin increases TGF-ß bioavailability and concentration in the extracellular matrix, leading to activation of proinflammatory transcription factors. In turn, these events cause increased expression of matrix metalloproteinases and cytokines that control the migration and infiltration of inflammatory cells into the aorta. Moreover, TGF-ß causes accumulation of reactive oxygen species leading to further degradation of elastin fibers. All these processes result in medial elastolysis, which increases the risk of vascular complications. Although MFS is a hereditary disease, symptoms and traits are usually not noticeable at birth. During childhood or adolescence affected individuals present with severe tissue weaknesses, especially in the aorta, heart, eyes, and skeleton. Considering this, even young patients should avoid activities that exert additional stress and pressure on the aorta and the cardiovascular system. Thus, if the diagnosis is made and prophylactic treatment is initiated in a timely fashion, MFS and its preliminary pathophysiologic vascular remodeling can be successfully ameliorated reducing the risk of life-threatening complications. This commentary focuses on new research opportunities and molecular findings on MFS, discusses future challenges and possible long-term therapies.


Assuntos
Assistência de Longa Duração/métodos , Síndrome de Marfan/metabolismo , Síndrome de Marfan/terapia , Antagonistas Adrenérgicos beta/farmacologia , Antagonistas Adrenérgicos beta/uso terapêutico , Fibrilinas/metabolismo , Humanos , Assistência de Longa Duração/tendências , Síndrome de Marfan/diagnóstico , Metaloproteinases da Matriz/metabolismo , Metaloproteinases da Matriz/farmacologia , Músculo Liso Vascular/metabolismo , Músculo Liso Vascular/patologia , Fator de Crescimento Transformador beta/metabolismo , Remodelação Vascular/efeitos dos fármacos , Remodelação Vascular/fisiologia
11.
Circ Cardiovasc Imaging ; 12(3): e008129, 2019 03.
Artigo em Inglês | MEDLINE | ID: mdl-30841707

RESUMO

BACKGROUND: Both bicuspid aortic valve (BAV) and Marfan syndrome have been associated with aortic dissection risk, but it is unknown whether the presence of BAV is associated with an increased aortic risk in patients with an FBN1 gene mutation. We evaluated aortic diameters, aortic valve function, and aortic shape in Marfan syndrome patients with and without BAV and reported aortic events during follow-up. METHODS: All patients with an FBN1 gene mutation evaluated in our clinic were included. Aortic root diameters were measured, and the aortic valve was studied using echocardiography at each visit. RESULTS: Of the 1437 patients with an FBN1 gene mutation, 26 patients (1.8%) had a BAV. Both aortic root maximal diameter and normalized Z score were larger at all ages, in patients with BAV when compared with patients with tricuspid aortic valve. Prophylactic aortic root surgery tended to be performed in younger patients when BAV was present, although aortic diameter threshold was similar in the 2 populations. No aortic dissection was observed in Marfan syndrome patients with BAV. CONCLUSIONS: In patients with a FBN1 mutation, BAV is associated with larger aortic root diameter, with no difference in evolution of Z score with age. We found a trend towards prophylactic aortic root surgery at younger ages but similar aortic diameter thresholds without occurrence of aortic dissection. We did not find any evidence for lowering aortic diameter thresholds used to propose preventive aortic root surgery in the presence of BAV in patients with FBN1 mutations.


Assuntos
Aorta/fisiopatologia , Aneurisma Aórtico/epidemiologia , Valva Aórtica/anormalidades , Doenças das Valvas Cardíacas/epidemiologia , Síndrome de Marfan/epidemiologia , Remodelação Vascular , Adolescente , Adulto , Aorta/diagnóstico por imagem , Aneurisma Aórtico/diagnóstico por imagem , Aneurisma Aórtico/fisiopatologia , Valva Aórtica/diagnóstico por imagem , Criança , Ecocardiografia , Feminino , Fibrilina-1/genética , Predisposição Genética para Doença , Doenças das Valvas Cardíacas/diagnóstico por imagem , Humanos , Masculino , Síndrome de Marfan/diagnóstico , Síndrome de Marfan/genética , Mutação , Paris/epidemiologia , Prevalência , Prognóstico , Fatores de Risco , Fatores de Tempo , Adulto Jovem
12.
Ann Thorac Surg ; 108(3): e169-e171, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-30794782

RESUMO

Postoperative pseudoaneurysm of the left ventricular outflow tract is a rare but potentially lethal complication in patients after valve-sparing root replacement. This report describes a case of postoperative left ventricular outflow tract pseudoaneurysm in a 49-year-old woman with Marfan syndrome after valve-sparing aortic root replacement. Four months postoperatively, severe dehiscence of the aortic root graft resulted in a retrosternal giant pseudoaneurysm. She underwent emergency redo aortic root replacement, and the postoperative course was uneventful. Although valve-sparing aortic root replacement for aortic root dilatation is widely accepted, we must consider the possibility of postoperative pseudoaneurysms in patients with Marfan syndrome.


Assuntos
Falso Aneurisma/diagnóstico por imagem , Falso Aneurisma/cirurgia , Insuficiência da Valva Aórtica/cirurgia , Implante de Prótese de Valva Cardíaca/efeitos adversos , Reoperação/métodos , Obstrução do Fluxo Ventricular Externo/cirurgia , Falso Aneurisma/etiologia , Insuficiência da Valva Aórtica/diagnóstico por imagem , Insuficiência da Valva Aórtica/etiologia , Tratamento de Emergência , Feminino , Seguimentos , Implante de Prótese de Valva Cardíaca/métodos , Humanos , Síndrome de Marfan/complicações , Síndrome de Marfan/diagnóstico , Pessoa de Meia-Idade , Tomografia Computadorizada Multidetectores/métodos , Complicações Pós-Operatórias/diagnóstico por imagem , Complicações Pós-Operatórias/cirurgia , Falha de Prótese , Recuperação de Função Fisiológica , Medição de Risco , Obstrução do Fluxo Ventricular Externo/diagnóstico por imagem , Obstrução do Fluxo Ventricular Externo/etiologia
13.
J Med Vasc ; 44(1): 71-75, 2019 Feb.
Artigo em Francês | MEDLINE | ID: mdl-30770084

RESUMO

Marfan syndrome is an autosomal dominant disorder of connective tissue which has many clinical symptoms and whose prognosis depends on associated cardiovascular complications, dominated by proximal aortic disorders. Peripheral arterial aneurysms are rare during Marfan syndrome and are exceptionally indicative of the disease. We report the case of a large aneurysm of the axillary-subclavian artery in pre-rupture revealing a new case of Marfan syndrome. Treatment consisted in surgical repair by resection of the aneurysm and performing a venous bypass graft; the postoperative course was uneventful.


Assuntos
Aneurisma/diagnóstico por imagem , Artéria Axilar/diagnóstico por imagem , Angiografia por Tomografia Computadorizada , Síndrome de Marfan/diagnóstico , Artéria Subclávia/diagnóstico por imagem , Adulto , Aneurisma/etiologia , Aneurisma/cirurgia , Artéria Axilar/cirurgia , Humanos , Síndrome de Marfan/complicações , Valor Preditivo dos Testes , Veia Safena/transplante , Artéria Subclávia/cirurgia , Resultado do Tratamento , Enxerto Vascular
14.
Ann Vasc Surg ; 57: 266-271, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30684615

RESUMO

BACKGROUND: The aim of this study is to report the Destino-guided branched endovascular aortic repair approach as a valid alternative to catheterization downward branches in complex aortic arch/descending thoracic anatomies. METHODS & RESULTS: A 53-year-old woman with Marfan syndrome underwent a thoracoabdominal aortic aneurysm (TAAA) repair for a type III dissecting aneurysm. A custom repair with an endograft having 3 fenestrations (for renal arteries and superior mesenteric artery) and 1 branch for the celiac trunk was planned. The right axillary artery was chronically occluded; the left subclavian artery (LSA) was aneurysmatic. The catheterization of the celiac trunk branch was demanding but ultimately a bare stent was used as a bridging component between the graft and the target vessel, for spinal cord preconditioning. At the 2-month computed tomography angiography, when planning the relining of the bare metal stent, a 1 cm increase in diameter of the LSA aneurysm was documented and therefore a Destino-guided branched endovascular aortic repair was planned. This approach consists of branch catheterization via femoral access using the Destino steerable guiding sheath inside which, after bending, a smaller Cook Flexor is placed to easily deliver the stent, while maintaining stability. CONCLUSIONS: The Destino-guided branched endovascular aortic repair is a reproducible and effective alternative to the classic catheterization of side branches via brachial/axillary access allowing their completion from a femoral access.


Assuntos
Aneurisma Dissecante/cirurgia , Aneurisma da Aorta Torácica/cirurgia , Implante de Prótese Vascular/instrumentação , Cateterismo Periférico/instrumentação , Procedimentos Endovasculares/instrumentação , Artéria Femoral , Dispositivos de Acesso Vascular , Aneurisma Dissecante/diagnóstico por imagem , Aneurisma Dissecante/etiologia , Aneurisma da Aorta Torácica/diagnóstico por imagem , Aneurisma da Aorta Torácica/etiologia , Aortografia/métodos , Prótese Vascular , Angiografia por Tomografia Computadorizada , Desenho de Equipamento , Feminino , Artéria Femoral/diagnóstico por imagem , Humanos , Síndrome de Marfan/complicações , Síndrome de Marfan/diagnóstico , Pessoa de Meia-Idade , Punções , Resultado do Tratamento
15.
Genet Med ; 21(8): 1832-1841, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-30675029

RESUMO

PURPOSE: Heritable factors play an important etiologic role in connective tissue disorders (CTD) with vascular involvement, and a genetic diagnosis is getting increasingly important for gene-tailored, personalized patient management. METHODS: We analyzed 32 disease-associated genes by using targeted next-generation sequencing and exome sequencing in a clinically relevant cohort of 199 individuals. We classified and refined sequence variants according to their likelihood for pathogenicity. RESULTS: We identified 1 pathogenic variant (PV; in FBN1 or SMAD3) in 15 patients (7.5%) and ≥1 likely pathogenic variant (LPV; in COL3A1, FBN1, FBN2, LOX, MYH11, SMAD3, TGFBR1, or TGFBR2) in 19 individuals (9.6%), together resulting in 17.1% diagnostic yield. Thirteen PV/LPV were novel. Of PV/LPV-negative patients 47 (23.6%) showed ≥1 variant of uncertain significance (VUS). Twenty-five patients had concomitant variants. In-depth evaluation of reported/calculated variant classes resulted in reclassification of 19.8% of variants. CONCLUSION: Variant classification and refinement are essential for shaping mutational spectra of disease genes, thereby improving clinical sensitivity. Obligate stringent multigene analysis is a powerful tool for identifying genetic causes of clinically related CTDs. Nonetheless, the relatively high rate of PV/LPV/VUS-negative patients underscores the existence of yet unknown disease loci and/or oligogenic/polygenic inheritance.


Assuntos
Aorta/fisiopatologia , Doenças do Tecido Conjuntivo/genética , Sequenciamento de Nucleotídeos em Larga Escala , Síndrome de Marfan/genética , Adulto , Aorta/metabolismo , Biomarcadores/metabolismo , Estudos de Coortes , Tecido Conjuntivo/metabolismo , Tecido Conjuntivo/patologia , Doenças do Tecido Conjuntivo/fisiopatologia , Feminino , Testes Genéticos , Humanos , Masculino , Síndrome de Marfan/diagnóstico , Síndrome de Marfan/fisiopatologia
16.
Medicine (Baltimore) ; 98(3): e14176, 2019 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-30653163

RESUMO

RATIONALE: Marfan syndrome (MFS) is a genetic disorder of the connective tissue. MFS has an incidence of about 2 to 3 persons per 10,000 population. MFS is characterized majorly by the involvement of the eyes, skeletal muscles, and cardiovascular system. There are limited case reports of co-existence of MFS and type 2 diabetes mellitus (T2DM). PATIENT CONCERNS: A 16-year-old male patient who got admitted to our hospital with complaints of loss of vision from left eye for the last 3 days.Diagnosis of MFS along with luxation of left eye lens, and T2DM were made according to the patient's symptoms, signs, biochemical results, and ultrasonography. INTERVENTIONS: The patient received "vitrectomy (posterior approach (left eye)) + cataract extraction (left eye) + intraocular lens implantation (left eye) surgery" for luxation of left eye lens. The patient received "Bentall Operation" for MFS, and was prescribed warfarin 5 mg qod and spironolactone 20 mg bid during the follow-up period. The patient received continuous subcutaneous insulin infusion (CSII) during hospitalization, and then changed to insulin glargine preparation during the follow-up period. OUTCOMES: The vision was restored after the eye surgery and the patient also recovered well after the Bentall Operation. Additionally, there were no obvious complications during hospitalization and the follow-up period. Blood glucose levels were within normal range. LESSONS: There is a need to improve the recognition of MFS among school and community doctors. Early detection, diagnosis, and treatment of this rare disease can improve the quality of patient's life.


Assuntos
Diabetes Mellitus Tipo 2/complicações , Síndrome de Marfan/complicações , Adolescente , Catarata/complicações , Extração de Catarata/métodos , China , Diabetes Mellitus Tipo 2/diagnóstico , Diabetes Mellitus Tipo 2/terapia , Humanos , Insulina/uso terapêutico , Implante de Lente Intraocular/métodos , Subluxação do Cristalino/complicações , Subluxação do Cristalino/cirurgia , Masculino , Síndrome de Marfan/diagnóstico , Síndrome de Marfan/terapia , Vitrectomia/métodos
17.
Ann Vasc Surg ; 57: 273.e7-273.e10, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30685343

RESUMO

Extracranial internal carotid artery (ICA) aneurysms are rare and most of them are considered of atherosclerotic etiology. Marfan syndrome (MS) is a systemic connective tissue disorder caused by mutation in the extracellular matrix protein fibrillin 1. Clinical manifestations of the MS include aortic aneurysms, dislocation of the ocular lens, and long bone overgrowth. The presence of extracranial ICA aneurysm in patients with MS is very rare. We report a 62-year-old female patient with MS presented with an extracranial ICA aneurysm. She was treated with aneurysmectomy and end-to-end anastomosis, with good outcomes. Only 10 cases of patients with MS and extracranial ICA aneurysm have been described in the literature. Clinical presentation, treatment, and outcome of these patients are reviewed and discussed.


Assuntos
Aneurisma/etiologia , Doenças das Artérias Carótidas/etiologia , Artéria Carótida Interna , Síndrome de Marfan/complicações , Aneurisma/diagnóstico por imagem , Aneurisma/cirurgia , Doenças das Artérias Carótidas/diagnóstico por imagem , Doenças das Artérias Carótidas/cirurgia , Artéria Carótida Interna/diagnóstico por imagem , Artéria Carótida Interna/cirurgia , Angiografia por Tomografia Computadorizada , Feminino , Humanos , Síndrome de Marfan/diagnóstico , Pessoa de Meia-Idade , Resultado do Tratamento
18.
Rev. esp. anestesiol. reanim ; 66(1): 49-52, ene. 2019.
Artigo em Espanhol | IBECS | ID: ibc-177290

RESUMO

El síndrome de Marfan es un trastorno hereditario del tejido conectivo. La principal causa de mortalidad en estas pacientes es debida a complicaciones cardiovasculares relacionadas con dilatación aneurismática de la raíz aórtica y disección de la misma, situación que aumenta su riesgo con los cambios fisiológicos que ocurren durante el embarazo, el parto y el puerperio. Presentamos el caso de una paciente embarazada que presentaba síndrome de Marfan y dilatación de la raíz aórtica de 42mm, e intentamos arrojar luz sobre temas como son la vía de parto (parto vaginal vs. cesárea) en función del diámetro aórtico o la elección del tipo de anestesia (general vs. neuroaxial) en estos casos


Marfan syndrome is a hereditary connective tissue disorder. The main cause of mortality in these patients is due to cardiovascular complications related to dilation of an aneurysm and dissection of the aortic root, a situation that increases their risk due to the physiological changes that occur during pregnancy, childbirth and puerperium. The case is presented of a pregnant woman with Marfan syndrome and aortic root dilatation of 42mm. The issues are discussed, such as the mode of delivery (vaginal delivery vs. caesarean section) depending on the aortic root diameter or the choice of type of anaesthesia (general vs. neuraxial) in these cases


Assuntos
Humanos , Feminino , Gravidez , Adulto , Síndrome de Marfan/diagnóstico , Insuficiência da Valva Aórtica/complicações , Cesárea , Anestesia Obstétrica/métodos , Síndrome de Marfan/complicações , Complicações na Gravidez/diagnóstico , Gravidez de Alto Risco
20.
Genet Med ; 21(1): 124-132, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-29875419

RESUMO

PURPOSE: We aimed to assess the definition of actionability of secondary findings in childhood, using a screening framework. METHODS: For 31 disorders on the American College of Medical Genetics and Genomics SF v.2.0 list, World Health Organization screening criteria were applied to assess actionability in childhood. RESULTS: The age of onset was variable. We categorized disorders based on the proportion of cases that presented in childhood: rare (n = 6), fewer than half the cases (n = 9), the majority of cases (n = 12), or unclear (n = 4). The age at initiation of intervention was based on the youngest age of onset reported, not evidence of the benefit of early intervention. For 15 disorders, guidelines were supported by a moderate quality of evidence for at least one recommendation. Only tuberous sclerosis complex had recommendations based on high-quality evidence. All others were based on evidence of low or very low quality. CONCLUSION: We propose that actionability in childhood should be based on the proportion of cases that manifest in childhood and the quality of the evidence supporting intervention recommendations. Ideally, disclosure in childhood would be limited to disorders for which a majority of cases present in childhood and for which interventions are supported by evidence of at least moderate quality (i.e., multiple endocrine neoplasia type 2, retinoblastoma, tuberous sclerosis complex, Marfan syndrome, and Wilson's disease).


Assuntos
Doenças Genéticas Inatas/genética , Testes Genéticos , Genoma Humano/genética , Sequenciamento de Nucleotídeos em Larga Escala , Adolescente , Criança , Feminino , Doenças Genéticas Inatas/diagnóstico , Doenças Genéticas Inatas/patologia , Genômica , Degeneração Hepatolenticular/diagnóstico , Degeneração Hepatolenticular/epidemiologia , Degeneração Hepatolenticular/genética , Humanos , Masculino , Síndrome de Marfan/diagnóstico , Síndrome de Marfan/epidemiologia , Síndrome de Marfan/genética , Neoplasia Endócrina Múltipla Tipo 2a/diagnóstico , Neoplasia Endócrina Múltipla Tipo 2a/epidemiologia , Neoplasia Endócrina Múltipla Tipo 2a/genética , Retinoblastoma/diagnóstico , Retinoblastoma/epidemiologia , Retinoblastoma/genética , Esclerose Tuberosa/diagnóstico , Esclerose Tuberosa/epidemiologia , Esclerose Tuberosa/genética
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA