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1.
Am J Med Genet A ; 191(5): 1250-1260, 2023 05.
Artigo em Inglês | MEDLINE | ID: mdl-36760094

RESUMO

Arteriovenous malformations (AVM) are characterized by abnormal vessels connecting arteries and veins resulting in a disruption of normal blood flow. Hereditary hemorrhagic telangiectasia (HHT) is the most common cause of pulmonary AVM characterized by a right to left shunt. Here we describe a distinct malformation where the flow of blood was from a systemic artery to the pulmonary artery (PA) resulting in a left to right shunt instead of the right to left shunt seen in individuals with HHT. This distinct malformation was identified in seven probands, one from a multiplex family containing 10 affected individuals from five generations. To identify the molecular basis of this distinct malformation, we performed exome sequencing (ES) on the seven probands and the affected paternal female cousin from the multiplex family. PhenoDB was used to prioritize candidate causative variants along with burden analysis. We describe the clinical and radiological details of the new systemic artery to PA malformation with or without pulmonary artery aneurysm (SA-PA(A)) and recommend distinct treatment techniques. Moreover, ES analysis revealed possible causative variants identified in three families with variants in a novel candidate disease gene, MCF2L. Further functional studies will be necessary to better understand the molecular mechanisms involved on SA-PA(A) malformation, however our findings suggest that MCF2L is a novel disease gene associated with SA-PA(A).


Assuntos
Aneurisma , Malformações Arteriovenosas , Telangiectasia Hemorrágica Hereditária , Malformações Vasculares , Humanos , Feminino , Artéria Pulmonar/diagnóstico por imagem , Artéria Pulmonar/anormalidades , Malformações Vasculares/genética , Telangiectasia Hemorrágica Hereditária/diagnóstico por imagem , Telangiectasia Hemorrágica Hereditária/genética , Aneurisma/diagnóstico por imagem , Aneurisma/genética , Fatores de Troca de Nucleotídeo Guanina Rho
2.
Pediatr Transplant ; 5(3): 187-91, 2001 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-11422821

RESUMO

This study was carried out to compare echocardiographic findings of children taking tacrolimus and cyclosporin A (CsA) after orthotopic liver transplantation (OLT). Echocardiograms of 19 children were reviewed during hospitalizations after OLT, and echocardiograms were performed on 23 children who returned to the clinic for a routine follow-up visit after OLT. Measurements were made of the left ventricle (LV) end-diastolic dimension, and of the thickness of the LV free wall (LVFW) and the inter-ventricular septum (IVS). From these measurements, the LV mass was calculated. LV outflow gradient was measured by using Doppler interrogation. Comparisons were made between patients on CsA and patients on tacrolimus. Children with hypertrophic cardiomyopathy (HCM) were identified. Two patients from the in-patient tacrolimus group were found to have HCM. These two patients had asymmetric septal hypertrophy with dynamic LV outflow obstruction and were successfully treated with propranolol, with or without discontinuing tacrolimus. In the out-patient studies, there was no difference in LVFW and IVS thickness, or LV mass index, between children on CsA and children on tacrolimus. Hence, tacrolimus is associated with the development of HCM in children. The effect of tacrolimus on HCM development may be acute and temporary. More data are needed to determine the incidence of HCM in children on tacrolimus therapy and to establish guidelines for clinicians who follow-up these children.


Assuntos
Cardiomiopatia Hipertrófica/induzido quimicamente , Cardiomiopatia Hipertrófica/diagnóstico por imagem , Ciclosporina/efeitos adversos , Ciclosporina/uso terapêutico , Imunossupressores/efeitos adversos , Imunossupressores/uso terapêutico , Transplante de Fígado/diagnóstico por imagem , Tacrolimo/efeitos adversos , Tacrolimo/uso terapêutico , Adolescente , Cardiomiopatia Hipertrófica/fisiopatologia , Criança , Pré-Escolar , Feminino , Rejeição de Enxerto/tratamento farmacológico , Rejeição de Enxerto/fisiopatologia , Rejeição de Enxerto/prevenção & controle , Ventrículos do Coração/diagnóstico por imagem , Ventrículos do Coração/patologia , Humanos , Lactente , Hepatopatias/cirurgia , Transplante de Fígado/fisiologia , Masculino , Ultrassonografia , Função Ventricular Esquerda/fisiologia
3.
J Am Coll Cardiol ; 32(6): 1749-55, 1998 Nov 15.
Artigo em Inglês | MEDLINE | ID: mdl-9822105

RESUMO

OBJECTIVES: The purpose of the study was to assess the effects of maternal HIV-1 (human immunodeficiency virus) infection and vertically transmitted HIV-1 infection on the prevalence of congenital cardiovascular malformations in children. BACKGROUND: In the United States, an estimated 7000 children are born to HIV-infected women annually. Previous limited reports have suggested an increase in the prevalence of congenital cardiovascular malformations in vertically transmitted HIV-infected children. METHODS: In a prospective longitudinal multicenter study, diagnostic echocardiograms were performed at 4-6-month intervals on two cohorts of children exposed to maternal HIV-1 infection: 1) a Neonatal Cohort of 90 HIV-infected, 449 HIV-uninfected and 19 HIV-indeterminate children; and 2) an Older HIV-Infected Cohort of 201 children with vertically transmitted HIV-1 infection recruited after 28 days of age. RESULTS: In the Neonatal Cohort, 36 lesions were seen in 36 patients, yielding an overall congenital cardiovascular malformation prevalence of 6.5% (36/558), with a 8.9% (8/90) prevalence in HIV-infected children and a 5.6% (25/449) prevalence in HIV-uninfected children. Two children (2/558, 0.4%) had cyanotic lesions. In the Older HIV-Infected Cohort, there was a congenital cardiovascular malformation prevalence of 7.5% (15/201). The distribution of lesions did not differ significantly between the groups. CONCLUSIONS: There was no statistically significant difference in congenital cardiovascular malformation prevalence in HIV-infected versus HIV-uninfected children born to HIV-infected women. With the use of early screening echocardiography, rates of congenital cardiovascular malformations in both the HIV-infected and HIV-uninfected children were five- to ten-fold higher than rates reported in population-based epidemiologic studies but not higher than in normal populations similarly screened. Potentially important subclinical congenital cardiovascular malformations were detected.


Assuntos
Infecções por HIV/complicações , Cardiopatias Congênitas/epidemiologia , Cardiopatias Congênitas/etiologia , Complicações Infecciosas na Gravidez , Estudos de Coortes , Eletrocardiografia , Feminino , Infecções por HIV/transmissão , Comunicação Interatrial/etiologia , Humanos , Lactente , Recém-Nascido , Transmissão Vertical de Doenças Infecciosas , Estudos Longitudinais , Masculino , Gravidez , Prevalência , Estudos Prospectivos
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