RESUMO
Loeys-Dietz syndrome (LDS) is an autosomal-dominant connective tissue disorder associated with mutations in the transforming growth factor ß receptor. It is characterized by distinctive craniofacial changes, skeletal features, and cardiovascular complications. We present a case of a 24-year-old male with development delay and a one-year history of progressively worsening dyspnea on moderate exertion and orthopnea. Echocardiography revealed right atrial and right ventricle dilation, right ventricle hypertrophy, atrial septal defect, and aneurysmal dilation of the pulmonary artery trunk. This case underscores the importance of early detection and comprehensive imaging in patients suspected of having LDS, particularly considering the potential for atypical vascular manifestations.
Assuntos
Diagnóstico Tardio , Ecocardiografia , Comunicação Interatrial , Síndrome de Loeys-Dietz , Artéria Pulmonar , Humanos , Masculino , Síndrome de Loeys-Dietz/complicações , Síndrome de Loeys-Dietz/diagnóstico , Comunicação Interatrial/complicações , Comunicação Interatrial/diagnóstico , Artéria Pulmonar/diagnóstico por imagem , Artéria Pulmonar/anormalidades , Adulto Jovem , Ecocardiografia/métodos , Dilatação Patológica , Diagnóstico DiferencialRESUMO
Hereditary connective tissue disorders include more than 200 conditions affecting different organs and tissues, compromising the biological role of the extracellular matrix through interference in the synthesis, development, or secretion of collagen and/or its associated proteins. The clinical phenotype includes multiple signs and symptoms, usually nonspecific but of interest to rheumatologists because of musculoskeletal involvement. The patient´s journey to diagnosis is long, and physicians should include these disorders in their differential diagnoses of diseases with systemic involvement. In this review, insights for the diagnosis and treatment of osteogenesis imperfecta, hypermobility spectrum disorder/Ehlers-Danlos syndrome, Marfan, Loeys-Dietz, and Stickler syndromes are presented.
Assuntos
Doenças do Tecido Conjuntivo , Humanos , Artrite , Colágeno/genética , Doenças do Tecido Conjuntivo/genética , Doenças do Tecido Conjuntivo/terapia , Síndrome de Ehlers-Danlos/genética , Síndrome de Ehlers-Danlos/diagnóstico , Perda Auditiva Neurossensorial , Instabilidade Articular/genética , Síndrome de Loeys-Dietz/genética , Síndrome de Loeys-Dietz/diagnóstico , Síndrome de Marfan/genética , Síndrome de Marfan/diagnóstico , Osteogênese Imperfeita/genética , Descolamento RetinianoRESUMO
Loeys-Dietz syndrome (LDS) is a connective tissue disease related to ß-transforming growth factor mutations, which causes aneurysms formation, vascular tortuosity and skeletal manifestations. The prognosis is very poor, and mortality occurs at the age of 27 in patients without surgical treatment. Despite being diagnosed in childhood, is not usual surgical aortic replacement in children. We report a case of 12 years old child with LDS and multiple aneurysms in thoracic aorta, undergoing complete aortic arch replacement and our proposal for the anesthetic management, due to surgical complexity and implications in pediatric population.
El síndrome de Loeys-Dietz (SDL) es una enfermedad del tejido conectivo debida a mutaciones del factor de crecimiento transformador beta que provocan formación de aneurismas, malformaciones vasculares y esqueléticas. Tiene mal pronóstico y el fallecimiento sobreviene de media a los 27 años sin tratamiento quirúrgico. A pesar de diagnosticarse en la infancia, es infrecuente la cirugía en niños. Presentamos el caso de una niña de 12 años con SDL y aneurisma múltiple en aorta torácica, programada para recambio completo de arco aórtico, proponiendo estrategias para el manejo anestésico, dada la complejidad y las implicaciones de esta cirugía en la población pediátrica.
Assuntos
Anestésicos , Síndrome de Loeys-Dietz , Criança , Humanos , Aorta Torácica/cirurgia , Síndrome de Loeys-Dietz/complicações , Síndrome de Loeys-Dietz/genética , Síndrome de Loeys-Dietz/cirurgia , MutaçãoRESUMO
BACKGROUND: Loeys-Dietz syndrome (LDS) is a rare autosomal dominant syndrome characterized by heterozygous mutations causing multisystemic alterations. It was recently described in 2005, and today at least six different subtypes have been identified. Classically presenting with aortic root enlargement or aneurysms and craniofacial and skeletal abnormalities, with specific arterial tortuosity at any site. The differential diagnosis of LDS includes atypical Marfan syndrome, vascular Ehlers-Danlos syndrome, Shprintzen-Goldberg craniosynostosis, and familial aortic aneurysm and dissection syndrome. CASE SUMMARY: We present a case study of a 35-year-old female who came to the emergency department due to lower gastrointestinal bleeding and severe abdominal pain. Computed tomography revealed vascular tortuosity in almost every abdominal vein. CONCLUSION: This case report will help us analyze the infrequent presentation of LDS type 4 and the numerous complications that it implies, underlying the importance of publishing more cases in order to expand our knowledge and offer better treatment for these patients. Differential diagnosis, clinical presentation and treatment options for this syndrome are discussed in this article.
RESUMO
El síndrome de Loeys-Dietz es una enfermedad genética autosómica dominante caracterizada por aneurismas aórticos, tortuosidad arterial generalizada, hipertelorismo y úvula bifida o paladar hendido. La complicación cardiovascular más grave es la disección aórtica. Se presentan cuatro casos familiares de este síndrome en tres generaciones, todos con dilatación aórtica grave, y se describen sus aspectos diagnósticos, indicación y tratamiento quirúrgico, como así también pautas de seguimiento.
Loeys-Dietz Syndrome is an autosomal dominant disease with aortic aneurysms, arterial tortuosity with hypertelorism and bifid uvula. We describe four familial cases within three generations. The diagnosis, surgical management and followup will be addressed.
Assuntos
Humanos , Masculino , Adolescente , Síndrome de Loeys-Dietz/genética , Síndrome de Loeys-Dietz/cirurgia , Síndrome de Loeys-Dietz/diagnósticoRESUMO
Loeys-Dietz Syndrome is an autosomal dominant disease with aortic aneurysms, arterial tortuosity with hypertelorism and bifid uvula. We describe four familial cases within three generations. The diagnosis, surgical management and followup will be addressed.
El síndrome de Loeys-Dietz es una enfermedad genética autosómica dominante caracterizada por aneurismas aórticos, tortuosidad arterial generalizada, hipertelorismo y úvula bífida o paladar hendido. La complicación cardiovascular más grave es la disección aórtica. Se presentan cuatro casos familiares de este síndrome en tres generaciones, todos con dilatación aórtica grave, y se describen sus aspectos diagnósticos, indicación y tratamiento quirúrgico, como así también pautas de seguimiento.
Assuntos
Síndrome de Loeys-Dietz/genética , Adolescente , Humanos , Síndrome de Loeys-Dietz/diagnóstico , Síndrome de Loeys-Dietz/cirurgia , MasculinoRESUMO
A 10-month-old girl with type I Loeys-Dietz syndrome developed a conspicuous aortic root aneurysm that was well demonstrated on chest X-ray/CT reconstruction. She underwent successful valve-spare repair of the ascending aorta.
Assuntos
Aorta/diagnóstico por imagem , Aneurisma da Aorta Torácica/complicações , Implante de Prótese Vascular/métodos , Síndrome de Loeys-Dietz/complicações , Aorta/cirurgia , Aneurisma da Aorta Torácica/diagnóstico , Aneurisma da Aorta Torácica/cirurgia , Feminino , Seguimentos , Humanos , Lactente , Síndrome de Loeys-Dietz/diagnóstico , Tomografia Computadorizada por Raios XRESUMO
Resumen: el síndrome de Loeys-Dietz es una rara enfermedad genética, autosómica dominante, con hábito marfanoide, que pertenece a un subconjunto de enfermedades del tejido conectivo con afectación esquelética, ocular y cardiovascular, principalmente. El desarrollo de aneurismas es característico en esta patología. El síndrome de Loeys-Dietz es causado por mutaciones en los genes TGFBR1, TGFBR2, TGFB2, TGFB3 Y SMAD3. En este manuscrito se describe el caso clínico de un paciente masculino, de 22 meses de vida, con una dilatación importante de la raíz aórtica y arco aórtico elongado cuya prueba molecular confirma el diagnóstico de síndrome de Loeys-Dietz, asociado a una mutación en el gen TGFBR2. Este corresponde al primer caso reportado en el suroccidente colombiano. (AU)
Abstract: Loeys-Dietz syndrome is a rare, autosomal dominant genetic disease, with marfanoid habit, which belongs to a subset of diseases of the connective tissue with mainly skeletal, ocular, and cardiovascular involvement. Aneurysms development is characteristic in this pathology. Loeys-Dietz syndrome is caused by mutations in TGFBR1, TGFBR2, TGFB2, TGFB3 and SMAD3 genes. In this manuscript is presented the clinical case of a 22-month-old male patient with significant dilatation of the aortic root and elongated aortic arch is described. The molecular test confirms the diagnosis of Loeys-Dietz syndrome associated with a mutation in the TGFBR2 gene. This corresponds to the first case reported in the southwestern Colombian. (AU)
Assuntos
Humanos , Vulnerabilidade SexualRESUMO
Se presenta el caso clínico de una paciente de 29 años de edad, con antecedentes de ectasia aórtica, quien había sido estudiada a los 18 años mediante cineangiografía y se halló un aneurisma fusiforme de la aorta abdominal infrarrenal y de la arteria ilíaca primitiva izquierda, de causa no precisada, las cuales fueron sustituidas con derivación aortofemoral izquierda. Posteriormente, en el 2012, presentó dolor y aumento del volumen en la región inguinal izquierda, por lo que fue atendida en el Cuerpo de Guardia del Hospital Provincial Docente Clinicoquirúrgico "Saturnino Lora Torres" de Santiago de Cuba, y evaluada por especialistas del Servicio de Angiología y Cirugía Vascular, los cuales determinaron operarle de urgencia, al observar un aneurisma anastomótico de la arteria femoral izquierda, de causa micótica, y las características: craneosinostosis, úvula bífida y hendidura del paladar; propias del síndrome de Loeys-Dietz.
The case report of a 29 year-old patient, with a history of aortic ectasia who had been studied when she was 18 years through cineangiography is presented and a fusiform aneurysm of the infrarrenal abdominal aorta and of the left primitive iliac artery, of unspecific cause was found, which were substituted with left aortofemoral bypass. Later on, in 2012, she presented pain and increase of the volume in the left inguinal region, reason why she was assisted in the emergency room of "Saturnino Lora Torres" Teaching Provincial Clinical Surgical Hospital in Santiago de Cuba, and evaluated by specialists of the Angiology and Vascular Surgery Service, which determined to treat her with an emergency surgery, when observing an anastomotic aneurysm of the left femoral artery of fungal cause, and the characteristics: craneosinostosis, bifid uvula and cleft palate; characteristic of Loeys Dietz syndrome.