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1.
Birth Defects Res ; 115(20): 1936-1940, 2023 12 01.
Artigo em Inglês | MEDLINE | ID: mdl-37817360

RESUMO

BACKGROUND: Both hypoplastic left heart syndrome and ventriculo-coronary communication are extremely rare congenital cardiac conditions. CASE: The diagnosis of hypoplastic left heart syndrome combined with endocardial fibroelastosis and ventriculo-coronary communication was made in a pregnant woman at 24 weeks of gestation. Interestingly, unlike diastolic flow from the coronary artery to the left ventricle in typical ventriculo-coronary communication, this fetus showed a systolic flow from the left ventricle to the coronary artery. CONCLUSION: To the best of our knowledge, this is the first study to present only a systolic flow signal in hypoplastic left heart syndrome combined with ventriculo-coronary communication in prenatal ultrasonography.


Assuntos
Fibroelastose Endocárdica , Cardiopatias Congênitas , Síndrome do Coração Esquerdo Hipoplásico , Gravidez , Feminino , Humanos , Síndrome do Coração Esquerdo Hipoplásico/diagnóstico por imagem , Ventrículos do Coração/diagnóstico por imagem , Ventrículos do Coração/anormalidades
2.
Heart Fail Rev ; 28(5): 1023-1031, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-37222928

RESUMO

Endocardial fibroelastosis (EFE) is a rare cardiac condition characterized by excessive endocardial thickening secondary to fibroelastic tissues that commonly present in infants and young children. Most of endocardial fibroelastosis cases are secondary forms, which occur in conjunction with other cardiac diseases. Endocardial fibroelastosis has been associated with poor prognosis and outcomes. In light of recent advancements in understanding pathophysiology, several new data have revealed compelling evidence that abnormal endothelial-to-mesenchymal transition is the root cause of endocardial fibroelastosis. This article aims to review the recent development in pathophysiology, diagnostic workup, and management, and to discuss possible differential diagnoses.


Assuntos
Fibroelastose Endocárdica , Humanos , Lactente , Criança , Pré-Escolar , Fibroelastose Endocárdica/complicações , Fibroelastose Endocárdica/diagnóstico , Endocárdio , Diagnóstico Diferencial
3.
Ultrasound Obstet Gynecol ; 62(1): 148-151, 2023 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-36806323

RESUMO

Anti-Ro/SSA-antibody-mediated endocardial fibroelastosis (EFE) without atrioventricular (AV) block at presentation is a rare cardiac phenotype. We report on 11 fetuses with this rare type of anti-Ro/SSA-antibody-mediated cardiac involvement, presenting with a distinctive echocardiographic pattern of EFE. Eleven fetuses with isolated EFE at presentation were included from four cardiac centers, and experienced fetal cardiologists reached a consensus regarding EFE location on echocardiography at presentation. Interval changes to subsequent fetal and postnatal echocardiograms were assessed to evaluate response to therapy. Echocardiographic markers of cardiac performance, including diastolic function and AV conduction, were reviewed. Ten fetuses were found to have EFE of the aortic root, proximal aorta and/or left ventricular outflow tract. In the same 10 cases, EFE of the pulmonary root, pulmonary artery and/or right ventricular outflow tract was identified. Six cases had atrial EFE and six had EFE of the crux. Four cases were known to be positive for anti-Ro/SSA antibodies prior to diagnosis, whereas, in the remaining seven, echocardiographic findings prompted testing, which was positive in all cases. The AV interval at presentation was normal in all cases, but one fetus subsequently developed AV block. Nine patients were treated with transplacental dexamethasone, five of which also received intravenous immunoglobulin (IVIG), and one received IVIG only. Of the 10 treated cases, six had improvement in EFE as shown by serial imaging and, in four cases, the severity was unchanged. All patients were liveborn. In our cohort, EFE of the aortic and pulmonary arteries and outflow tracts was nearly universal, and involvement of the atria and the crux of the heart was also common. The high survival rate and low burden of AV block are also suggestive of a distinct phenotype of anti-Ro/SSA-antibody-mediated cardiac disease with a favorable prognosis. © 2023 International Society of Ultrasound in Obstetrics and Gynecology.


Assuntos
Bloqueio Atrioventricular , Fibroelastose Endocárdica , Gravidez , Feminino , Humanos , Imunoglobulinas Intravenosas , Feto , Fibroelastose Endocárdica/diagnóstico por imagem , Ecocardiografia/métodos
4.
J Thorac Cardiovasc Surg ; 166(3): 933-942.e3, 2023 09.
Artigo em Inglês | MEDLINE | ID: mdl-36803549

RESUMO

OBJECTIVE: A subset of patients with borderline hypoplastic left heart may be candidates for single to biventricular conversion, but long-term morbidity and mortality persist. Prior studies have shown conflicting results regarding the association of preoperative diastolic dysfunction and outcome, and patient selection remains challenging. METHODS: Patients with borderline hypoplastic left heart undergoing biventricular conversion from 2005 to 2017 were included. Cox regression identified preoperative factors associated with a composite outcome of time to mortality, heart transplant, takedown to single ventricle circulation, or hemodynamic failure (defined as left ventricular end-diastolic pressure >20 mm Hg, mean pulmonary artery pressure >35 mm Hg, or pulmonary vascular resistance >6 international Woods units). RESULTS: Among 43 patients, 20 (46%) met the outcome, with a median time to outcome of 5.2 years. On univariate analysis, endocardial fibroelastosis, lower left ventricular end-diastolic volume/body surface area (when <50 mL/m2), lower left ventricular stroke volume/body surface area (when <32 mL/m2), and lower left:right ventricular stroke volume ratio (when <0.7) were associated with outcome; higher preoperative left ventricular end-diastolic pressure was not. Multivariable analysis demonstrated that endocardial fibroelastosis (hazard ratio, 5.1, 95% confidence interval, 1.5-22.7, P = .033) and left ventricular stroke volume/body surface area 28 mL/m2 or less (hazard ratio, 4.3, 95% confidence interval, 1.5-12.3, P = .006) were independently associated with a higher hazard of the outcome. Approximately all patients (86%) with endocardial fibroelastosis and left ventricular stroke volume/body surface area 28 mL/m2 or less met the outcome compared with 10% of those without endocardial fibroelastosis and with higher stroke volume/body surface area. CONCLUSIONS: History of endocardial fibroelastosis and smaller left ventricular stroke volume/body surface area are independent factors associated with adverse outcomes among patients with borderline hypoplastic left heart undergoing biventricular conversion. Normal preoperative left ventricular end-diastolic pressure is insufficient to reassure against diastolic dysfunction after biventricular conversion.


Assuntos
Fibroelastose Endocárdica , Transplante de Coração , Síndrome do Coração Esquerdo Hipoplásico , Humanos , Síndrome do Coração Esquerdo Hipoplásico/complicações , Síndrome do Coração Esquerdo Hipoplásico/cirurgia , Transplante de Coração/efeitos adversos , Ventrículos do Coração/diagnóstico por imagem , Ventrículos do Coração/cirurgia , Hemodinâmica
5.
Cardiol Young ; 33(5): 810-812, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-36217801

RESUMO

Left ventricular non-compaction is a very rare, still unclassified congenital cardiomyopathy. Nine distinct subtypes of functional and anatomical left ventricular non-compaction have been identified. Studies on the prognosis and mortality of subtypes are ongoing. Our study presented the first restrictive subtype left ventricular non-compaction case with family history and MYH7 gene mutation.


Assuntos
Fibroelastose Endocárdica , Cardiopatias , Humanos , Mutação , Ventrículos do Coração , Cadeias Pesadas de Miosina/genética , Miosinas Cardíacas/genética
6.
Am J Med Genet A ; 188(6): 1676-1687, 2022 06.
Artigo em Inglês | MEDLINE | ID: mdl-35166435

RESUMO

The Nexilin F-Actin Binding Protein (Nexilin) encoded by NEXN is a cardiac Z-disc protein important for cardiac function and development in humans, zebrafish, and mice. Heterozygote variants in the human NEXN gene have been reported to cause dilated and hypertrophic cardiomyopathy. Homozygous variants in NEXN cause a lethal form of human fetal cardiomyopathy, only described in two patients before. In a Swedish, four-generation, non-consanguineous family comprising 42 individuals, one female had three consecutive pregnancies with intrauterine fetal deaths caused by a lethal form of dilated cardiomyopathy. Whole-exome sequencing and variant analysis revealed that the affected fetuses were homozygous for a NEXN variant (NM_144573:c.1302del;p.(Ile435Serfs*3)). Moreover, autopsy and histology staining declared that they presented with cardiomegaly and endocardial fibroelastosis. Immunohistochemistry staining for Nexilin in the affected fetuses revealed reduced antibody staining and loss of striation in the heart, supporting loss of Nexilin function. Clinical examination of seven heterozygote carriers confirmed dilated cardiomyopathy (two individuals), other cardiac findings (three individuals), or no cardiac deviations (two individuals), indicating incomplete penetrance or age-dependent expression of dilated cardiomyopathy. RNA sequencing spanning the variant in cDNA blood of heterozygote individuals revealed nonsense-mediated mRNA decay of the mutated transcripts. In the current study, we present the first natural course of the recessively inherited lethal form of human fetal cardiomyopathy caused by loss of Nexilin function. The affected family had uneventful pregnancies until week 23-24, followed by fetal death at week 24-30, characterized by cardiomegaly and endocardial fibroelastosis.


Assuntos
Cardiomegalia , Fibroelastose Endocárdica , Proteínas dos Microfilamentos , Cardiomegalia/genética , Cardiomegalia/metabolismo , Cardiomegalia/patologia , Fibroelastose Endocárdica/genética , Fibroelastose Endocárdica/metabolismo , Fibroelastose Endocárdica/patologia , Feminino , Humanos , Imuno-Histoquímica , Proteínas dos Microfilamentos/genética , Proteínas dos Microfilamentos/metabolismo , Sequenciamento do Exoma
7.
J Am Heart Assoc ; 11(3): e023000, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-35001672

RESUMO

Background Transplacental fetal treatment of immune-mediated fetal heart disease, including third-degree atrioventricular block (AVB III) and endocardial fibroelastosis, is controversial. Methods and Results To study the impact of routine transplacental fetal treatment, we reviewed 130 consecutive cases, including 108 with AVB III and 22 with other diagnoses (first-degree/second-degree atrioventricular block [n=10]; isolated endocardial fibroelastosis [n=9]; atrial bradycardia [n=3]). Dexamethasone was started at a median of 22.4 gestational weeks. Additional treatment for AVB III included the use of a ß-agonist (n=47) and intravenous immune globulin (n=34). Fetal, neonatal, and 1-year survival rates with AVB III were 95%, 93%, and 89%, respectively. Variables present at diagnosis that were associated with perinatal death included an atrial rate <90 beats per minute (odds ratio [OR], 258.4; 95% CI, 11.5-5798.9; P<0.001), endocardial fibroelastosis (OR, 28.9; 95% CI, 1.6-521.7; P<0.001), fetal hydrops (OR, 25.5; 95% CI, 4.4-145.3; P<0.001), ventricular dysfunction (OR, 7.6; 95% CI, 1.5-39.4; P=0.03), and a ventricular rate <45 beats per minute (OR, 12.9; 95% CI, 1.75-95.8; P=0.034). At a median follow-up of 5.9 years, 85 of 100 neonatal survivors were paced, and 1 required a heart transplant for dilated cardiomyopathy. Cotreatment with intravenous immune globulin was used in 16 of 22 fetuses with diagnoses other than AVB III. Neonatal and 1-year survival rates of this cohort were 100% and 95%, respectively. At a median age of 3.1 years, 5 of 21 children were paced, and all had normal ventricular function. Conclusions Our findings reveal a low risk of perinatal mortality and postnatal cardiomyopathy in fetuses that received transplacental dexamethasone±other treatment from the time of a new diagnosis of immune-mediated heart disease.


Assuntos
Bloqueio Atrioventricular , Fibroelastose Endocárdica , Doenças Fetais , Anti-Inflamatórios/uso terapêutico , Anticorpos , Criança , Pré-Escolar , Dexametasona/uso terapêutico , Feminino , Doenças Fetais/diagnóstico , Doenças Fetais/tratamento farmacológico , Humanos , Imunoglobulinas Intravenosas/uso terapêutico , Recém-Nascido , Gravidez
8.
World J Pediatr Congenit Heart Surg ; 13(3): 389-392, 2022 05.
Artigo em Inglês | MEDLINE | ID: mdl-34775844

RESUMO

Optimal management of critical aortic stenosis (AS) in infants depends on the left ventricle's (LV's) ability to maintain adequate output. Determining feasibility of biventricular repair may be difficult, particularly in those with mitral disease, endocardial fibroelastosis (EFE), multi-level obstruction, and uncertain physiologic capacity. We report a case of a three-month-old with critical AS, severely reduced LV function, EFE, and moderate mitral regurgitation (MR), who underwent a Ross-Konno procedure with concomitant EFE resection and mitral valve repair. Although the technical sequence is challenging, definitive surgery completely relieved multi-level obstruction and MR with markedly improved LV function.


Assuntos
Estenose da Valva Aórtica , Procedimentos Cirúrgicos Cardíacos , Fibroelastose Endocárdica , Insuficiência da Valva Mitral , Obstrução do Fluxo Ventricular Externo , Valva Aórtica/cirurgia , Estenose da Valva Aórtica/cirurgia , Procedimentos Cirúrgicos Cardíacos/métodos , Fibroelastose Endocárdica/cirurgia , Humanos , Lactente , Valva Mitral/cirurgia , Insuficiência da Valva Mitral/cirurgia , Resultado do Tratamento , Obstrução do Fluxo Ventricular Externo/cirurgia
9.
Pediatr Res ; 92(3): 721-728, 2022 09.
Artigo em Inglês | MEDLINE | ID: mdl-34837068

RESUMO

BACKGROUND: Endothelial-to-mesenchymal-transition (EndMT) plays a major role in cardiac fibrosis, including endocardial fibroelastosis but the stimuli are still unknown. We developed an endothelial cell (EC) culture and a whole heart model to test whether mechanical strain triggers TGF-ß-mediated EndMT. METHODS: Isolated ECs were exposed to 10% uniaxial static stretch for 8 h (stretch) and TGF-ß-mediated EndMT was determined using the TGF-ß-inhibitor SB431542 (stretch + TGF-ß-inhibitor), BMP-7 (stretch + BMP-7) or losartan (stretch + losartan), and isolated mature and immature rats were exposed to stretch through a weight on the apex of the left ventricle. Immunohistochemical staining for double-staining with endothelial markers (VE-cadherin, PECAM1) and mesenchymal markers (αSMA) or transcription factors (SLUG/SNAIL) positive nuclei was indicative of EndMT. RESULTS: Stretch-induced EndMT in ECs expressed as double-stained ECs/total ECs (cells: 46 ± 13%; heart: 15.9 ± 2%) compared to controls (cells: 7 ± 2%; heart: 3.1 ± 0.1; p < 0.05), but only immature hearts showed endocardial EndMT. Inhibition of TGF-ß decreased the number of double-stained cells significantly, comparable to controls (cells/heart: control: 7 ± 2%/3.1 ± 0.1%, stretch: 46 ± 13%/15 ± 2%, stretch + BMP-7: 7 ± 2%/2.9 ± 0.1%, stretch + TGF-ß-inhibitor (heart only): 5.2 ± 1.3%, stretch + losartan (heart only): 0.89 ± 0.1%; p < 0.001 versus stretch). CONCLUSIONS: Endocardial EndMT is an age-dependent consequence of increased strain triggered by TGF- ß activation. Local inhibition through either rebalancing TGF-ß/BMP or with losartan was effective to block EndMT. IMPACT: Mechanical strain imposed on the immature LV induces endocardial fibroelastosis (EFE) formation through TGF-ß-mediated activation of endothelial-to-mesenchymal transition (EndMT) in endocardial endothelial cells but has no effect in mature hearts. Local inhibition through either rebalancing the TGF-ß/BMP pathway or with losartan blocks EndMT. Inhibition of endocardial EndMT with clinically applicable treatments may lead to a better outcome for congenital heart defects associated with EFE.


Assuntos
Fibroelastose Endocárdica , Endocárdio , Animais , Proteína Morfogenética Óssea 7/metabolismo , Proteína Morfogenética Óssea 7/farmacologia , Fibroelastose Endocárdica/metabolismo , Endocárdio/metabolismo , Células Endoteliais/metabolismo , Transição Epitelial-Mesenquimal/fisiologia , Losartan/farmacologia , Ratos , Transdução de Sinais , Fatores de Transcrição/metabolismo , Fator de Crescimento Transformador beta/metabolismo
10.
Cardiol Young ; 32(7): 1041-1047, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-34486505

RESUMO

Heart failure due to dilated cardiomyopathy is a major indication for paediatric cardiac transplantation. Endocardial fibroelastosis is a recognised pathological finding of unknown prognostic significance in paediatric dilated cardiomyopathy. To evaluate the nature of the association between left ventricular endocardial fibroelastosis and paediatric dilated cardiomyopathy, we reviewed surgical pathology reports of dilated cardiomyopathy explants (1986-2016) in order to characterise the pathological findings and to compare and contrast their frequency among four age groups: less than 1 year; 1-5 years; 6-10 years; and greater than 11 years. The 89 explants (47 males and 42 females) were all characterised by increased weight and left ventricular chamber dilatation without increased wall thickness. Ninety-five per cent of the specimens in the two youngest subsets had left ventricular endocardial fibroelastosis. Compared to the oldest age group, recipients aged 1-5 years had a 6-fold increase and those younger than 1 year a 19-fold increase in the odds of observing left ventricular endocardial fibroelastosis. Explants with and without endocardial fibroelastosis were otherwise phenotypically similar. In paediatric dilated cardiomyopathy endocardial fibroelastosis is a very common pathological finding, especially in infants and young children. We propose that the descriptive, clinico-pathological designation "Dilated Cardiomyopathy with Endocardial Fibroelastosis" should be adopted to facilitate future investigation into the potential prognostic/therapeutic significance of left ventricular endocardial fibroelastosis.


Assuntos
Cardiomiopatia Dilatada , Fibroelastose Endocárdica , Transplante de Coração , Cardiomegalia , Criança , Pré-Escolar , Fibroelastose Endocárdica/complicações , Endocárdio/patologia , Feminino , Ventrículos do Coração , Humanos , Lactente , Masculino
11.
J Mol Med (Berl) ; 99(11): 1623-1638, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-34387706

RESUMO

Among neonatal cardiomyopathies, primary endocardial fibroelastosis (pEFE) remains a mysterious disease of the endomyocardium that is poorly genetically characterized, affecting 1/5000 live births and accounting for 25% of the entire pediatric dilated cardiomyopathy (DCM) with a devastating course and grave prognosis. To investigate the potential genetic contribution to pEFE, we performed integrative genomic analysis, using whole exome sequencing (WES) and RNA-seq in a female infant with confirmed pathological diagnosis of pEFE. Within regions of homozygosity in the proband genome, WES analysis revealed novel parent-transmitted homozygous mutations affecting three genes with known roles in cilia assembly or function. Among them, a novel homozygous variant [c.1943delA] of uncertain significance in ALMS1 was prioritized for functional genomic and mechanistic analysis. Loss of function mutations of ALMS1 have been implicated in Alstrom syndrome (AS) [OMIM 203800], a rare recessive ciliopathy that has been associated with cardiomyopathy. The variant of interest results in a frameshift introducing a premature stop codon. RNA-seq of the proband's dermal fibroblasts confirmed the impact of the novel ALMS1 variant on RNA-seq reads and revealed dysregulated cellular signaling and function, including the induction of epithelial mesenchymal transition (EMT) and activation of TGFß signaling. ALMS1 loss enhanced cellular migration in patient fibroblasts as well as neonatal cardiac fibroblasts, while ALMS1-depleted cardiomyocytes exhibited enhanced proliferation activity. Herein, we present the unique pathological features of pEFE compared to DCM and utilize integrated genomic analysis to elucidate the molecular impact of a novel mutation in ALMS1 gene in an AS case. Our report provides insights into pEFE etiology and suggests, for the first time to our knowledge, ciliopathy as a potential underlying mechanism for this poorly understood and incurable form of neonatal cardiomyopathy. KEY MESSAGE: Primary endocardial fibroelastosis (pEFE) is a rare form of neonatal cardiomyopathy that occurs in 1/5000 live births with significant consequences but unknown etiology. Integrated genomics analysis (whole exome sequencing and RNA sequencing) elucidates novel genetic contribution to pEFE etiology. In this case, the cardiac manifestation in Alstrom syndrome is pEFE. To our knowledge, this report provides the first evidence linking ciliopathy to pEFE etiology. Infants with pEFE should be examined for syndromic features of Alstrom syndrome. Our findings lead to a better understanding of the molecular mechanisms of pEFE, paving the way to potential diagnostic and therapeutic applications.


Assuntos
Síndrome de Alstrom , Cardiomiopatias , Ciliopatias , Fibroelastose Endocárdica , Síndrome de Alstrom/genética , Síndrome de Alstrom/metabolismo , Síndrome de Alstrom/patologia , Cardiomiopatias/genética , Cardiomiopatias/metabolismo , Cardiomiopatias/patologia , Proteínas de Ciclo Celular/genética , Proteínas de Ciclo Celular/metabolismo , Ciliopatias/genética , Ciliopatias/metabolismo , Ciliopatias/patologia , Fibroelastose Endocárdica/genética , Fibroelastose Endocárdica/metabolismo , Fibroelastose Endocárdica/patologia , Transição Epitelial-Mesenquimal , Feminino , Fibroblastos , Humanos , Lactente , Mutação , Miocárdio/metabolismo , Miocárdio/patologia , Fenótipo , RNA-Seq , Transcriptoma
12.
Artigo em Inglês | MEDLINE | ID: mdl-34116780

RESUMO

Hypoplastic left heart complex with "borderline left ventricle" and intact ventricular septum is a clinical conundrum for the congenital heart surgeon. The choice between neonatal biventricular repair and single ventricle palliation can be challenging, and the current tools to aid in the decision-making process fail to account for the morbidity associated with intermediate and late diastolic dysfunction. Staged ventricular recruitment, consisting of valvular repair techniques, resection of endocardial fibroelastosis, atrial septal restriction, and augmentation of pulmonary blood flow, has been shown to improve left ventricular size and function culminating in eventual biventricular circulation. Despite staged ventricular recruitment, some patients cannot undergo biventricular conversion. Strategies to address these complex patients, including the "reverse" double switch, are the next frontier in biventricular repair.


Assuntos
Fibroelastose Endocárdica , Síndrome do Coração Esquerdo Hipoplásico , Ventrículos do Coração/cirurgia , Humanos , Síndrome do Coração Esquerdo Hipoplásico/cirurgia , Recém-Nascido , Cuidados Paliativos , Circulação Pulmonar
13.
BMC Cardiovasc Disord ; 21(1): 174, 2021 04 13.
Artigo em Inglês | MEDLINE | ID: mdl-33849460

RESUMO

BACKGROUND: Autopsies regularly aim to clarify the cause of death; however, relatives may directly benefit from autopsy results in the setting of heritable traits ("mortui vivos docent"). CASE PRESENTATION: A case of a sudden unexpected cardiac death of a 5.5-months-old child is presented. Autopsy and thorough postmortem cardiac examinations revealed a massively enlarged heart with endomyocardial fibroelastosis. Postmortem molecular testing (molecular autopsy) revealed an unusual combination of two biparental MYBPC3 gene mutations likely to underlie the cardiac abnormalities. Thus, the molecular autoptic findings also had consequences for the relatives of the deceased child and impact on further family planning. CONCLUSIONS: The presented case highlights the need for clinical autopsies including cardiac examinations and postmortem molecular testing; it also paves the way for further cascade screening of family members for cardiac disease, if a distinct genetic disorder is suspected.


Assuntos
Proteínas de Transporte/genética , Morte Súbita Cardíaca/etiologia , Fibroelastose Endocárdica/genética , Mutação , Autopsia , Cardiomegalia/genética , Cardiomegalia/patologia , Análise Mutacional de DNA , Morte Súbita Cardíaca/patologia , Fibroelastose Endocárdica/patologia , Evolução Fatal , Predisposição Genética para Doença , Hereditariedade , Heterozigoto , Humanos , Lactente , Masculino , Miocárdio/patologia , Linhagem , Fenótipo
14.
Ann Thorac Surg ; 111(3): e177-e180, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-32882198

RESUMO

In a pediatric population, congenital or acquired disease of the aortic and mitral valves may coexist and sometimes require replacement of both valves. Enlargement of aortic and mitral annuli may also be required. We demonstrate a challenging case that required upsizing of both prosthetic valves by redo anterior aortoventriculoplasty and patch enlargement of the aortic-mitral fibrous body. This case highlights the complexity and feasibility of enlarging both annuli in a reoperative setting, to implant larger prostheses.


Assuntos
Estenose da Valva Aórtica/cirurgia , Valva Aórtica/cirurgia , Fibroelastose Endocárdica/cirurgia , Implante de Prótese de Valva Cardíaca/métodos , Próteses Valvulares Cardíacas , Anuloplastia da Valva Mitral/métodos , Valva Mitral/cirurgia , Adolescente , Valva Aórtica/diagnóstico por imagem , Estenose da Valva Aórtica/diagnóstico , Ecocardiografia , Fibroelastose Endocárdica/diagnóstico , Humanos , Masculino , Valva Mitral/diagnóstico por imagem , Desenho de Prótese , Tomografia Computadorizada por Raios X
15.
J Vet Cardiol ; 32: 33-39, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33091799

RESUMO

In a 6-month-old, intact female, Japanese spitz presenting with severe dyspnea, lung ultrasonography revealed confluent B lines associated with severe echocardiographic left sided volume overload and systolic dysfunction. A congenital shunt or valvular dysplasia was not demonstrable. On electrocardiogram, there was a constant sinus rhythm, respectively sinus tachycardia. Cardiac troponin I was normal. Within 2 days of admission, the dog died of heart failure. On macroscopic postmortem examination, the left ventricle and atrium were markedly dilated, and the left ventricular endocardium had a mild diffuse whitish appearance. Histopathology revealed moderate to severe thickening of the left ventricular endocardium, composed mostly of abundant elastic fibers and fewer collagen fibers, diagnostic for endocardial fibroelastosis. In addition, there were mild degenerative changes of the atrioventricular valves. Endocardial fibroelastosis is a rare congenital disease and should be considered in a young dog if more common causes of echocardiographic dilated cardiomyopathy phenotype are ruled out.


Assuntos
Doenças do Cão/diagnóstico , Fibroelastose Endocárdica/veterinária , Insuficiência Cardíaca/veterinária , Animais , Diagnóstico Diferencial , Doenças do Cão/diagnóstico por imagem , Doenças do Cão/fisiopatologia , Cães , Dispneia/etiologia , Dispneia/veterinária , Ecocardiografia/veterinária , Fibroelastose Endocárdica/complicações , Fibroelastose Endocárdica/diagnóstico , Feminino , Insuficiência Cardíaca/complicações , Insuficiência Cardíaca/diagnóstico , Linhagem
16.
Georgian Med News ; (299): 55-61, 2020 Feb.
Artigo em Russo | MEDLINE | ID: mdl-32242845

RESUMO

The purpose of the study was to investigate the morphogenesis of the left ventricle in the hypoplastic left heart syndrome (HLHS). There are five types of hypoplastic left ventricles were identified: with a slit-like shape and hypoplasia of LV wall, with a slit-like cavity shape and wall hypertrophy and types with endocardial fibroelastosis (with a cylindrical cavity shape, with lacunar cavities and lacunar-cylindrical cavity of the left ventricle), as a result of differences in the wall structure, cavity shape, presence or absence of endocardial fibroelastosis. The analysis of morphometric data of pathomorphological types of the left ventricle in the HLHS revealed the possible ways of their morphogenesis. Left displacement of interventricular septum in embryogenesis at 4-5 weeks of intrauterine development is associated with the occurrence of atresia of the left atrioventricular orifice and aortic valve and the appearance of a slit-like shape and hypoplasia of LV wall in the HLHS. The displacement of only the conotruncus septum leads to the appearance of a slit-like shape of cavity and hypertrophy of LV wall in the HLHS. The pathomorphological types with endocardial fibroelastosis in the HLHS depends on the stage of embryogenesis of myocardium at which fibroelastosis appears: before the myocardial compaction (up to 4th week of gestation) - the lacunar shape of LV cavity with thin compact layer of myocardium; during the compaction of myocardium (5-6th week of gestation) - the lacunar-cylindrical shape of LV cavity and after compaction (after 7-8th week of fetal development) - a cylindrical shape of LV cavity.


Assuntos
Fibroelastose Endocárdica/patologia , Valvas Cardíacas/embriologia , Ventrículos do Coração/embriologia , Síndrome do Coração Esquerdo Hipoplásico/patologia , Morfogênese , Valva Aórtica , Fibroelastose Endocárdica/complicações , Valvas Cardíacas/patologia , Ventrículos do Coração/anormalidades , Humanos
17.
JACC Cardiovasc Imaging ; 13(2 Pt 2): 577-585, 2020 02.
Artigo em Inglês | MEDLINE | ID: mdl-31202761

RESUMO

OBJECTIVES: This study sought to investigate whether left ventricular (LV) global longitudinal strain (GLS) is associated with long-term outcome after mitral valve (MV) surgery for primary mitral regurgitation (MR) and assess the differences in outcome according to MR etiology: Barlow's disease (BD), fibroelastic deficiency (FED), and forme fruste (FF). BACKGROUND: Appropriate timing of MV surgery for primary MR is still challenging and may differ according to the etiology. In these patients, LV-GLS has been proposed as more sensitive measure to detect subtle LV dysfunction as compared with LV ejection fraction. METHODS: Echocardiography was performed in 593 patients (64% men, age 65 ± 12 years) with severe primary MR who underwent MV surgery, including assessment of LV-GLS. The etiology (BD, FED, or FF) was defined based on surgical observation. During follow-up, primary endpoint was all-cause mortality and a secondary endpoint included cardiovascular death, heart failure hospitalizations, and cerebrovascular accidents. RESULTS: During a median follow-up of 6.4 (interquartile range: 3.6 to 10.4) years, 146 patients died (16 within 30 days after surgery), 46 patients were hospitalized for heart failure, and 13 patients had a cerebrovascular accident. Age (hazard ratio [HR]: 1.08; 95% confidence interval [CI]: 1.05 to 1.11; p < 0.001) and LV-GLS (HR: 1.13; 95% CI: 1.06 to 1.21; p < 0.001) were independently associated with all-cause mortality. Patients with LV-GLS >-20.6% (more impaired) showed significant worse survival than did patients with LV-GLS ≤-20.6%; of interest, patients with BD showed similar prognosis compared with FED and FF. In addition, previous atrial fibrillation (HR: 1.70; 95% CI: 1.01 to 2.86; p = 0.045) and LV-GLS (HR: 1.01; 95% CI: 1.01 to 1.15; p = 0.019) were independently associated with the secondary endpoint. CONCLUSIONS: LV-GLS is independently associated with all-cause mortality and cardiovascular events after MV surgery for primary MR and might be helpful to guide surgical timing. Importantly, patients with BD showed similar prognosis when corrected for age, compared with patients with FED or FF.


Assuntos
Procedimentos Cirúrgicos Cardíacos , Ecocardiografia , Fibroelastose Endocárdica/cirurgia , Insuficiência da Valva Mitral/cirurgia , Prolapso da Valva Mitral/cirurgia , Valva Mitral/cirurgia , Disfunção Ventricular Esquerda/diagnóstico por imagem , Função Ventricular Esquerda , Idoso , Procedimentos Cirúrgicos Cardíacos/efeitos adversos , Procedimentos Cirúrgicos Cardíacos/mortalidade , Fibroelastose Endocárdica/diagnóstico por imagem , Fibroelastose Endocárdica/mortalidade , Fibroelastose Endocárdica/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Valva Mitral/diagnóstico por imagem , Valva Mitral/fisiopatologia , Insuficiência da Valva Mitral/diagnóstico por imagem , Insuficiência da Valva Mitral/etiologia , Insuficiência da Valva Mitral/fisiopatologia , Prolapso da Valva Mitral/diagnóstico por imagem , Prolapso da Valva Mitral/mortalidade , Prolapso da Valva Mitral/fisiopatologia , Valor Preditivo dos Testes , Recuperação de Função Fisiológica , Estudos Retrospectivos , Fatores de Risco , Volume Sistólico , Fatores de Tempo , Resultado do Tratamento , Disfunção Ventricular Esquerda/mortalidade , Disfunção Ventricular Esquerda/fisiopatologia
20.
J Thorac Cardiovasc Surg ; 159(2): 637-646, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31668539

RESUMO

OBJECTIVES: Endothelial-to-mesenchymal transition (EndMT) has been identified as the underlying mechanism of endocardial fibroelastosis (EFE) formation. The purpose of this study was to determine whether hemodynamic alterations due to valvar defects promote EndMT and whether age-specific structural changes affect ventricular diastolic compliance despite extensive surgical resection of EFE tissue. MATERIAL AND METHODS: We analyzed EFE tissue from 24 patients with hypoplastic left heart syndrome (HLHS) who underwent left ventricular (LV) rehabilitation surgery at Boston Children's Hospital between December 2011 and March 2018. Six patients with flow disturbances across the aortic valve and/or mitral valve but no HLHS diagnosis and macroscopic appearance of "EFE-like tissue" in the LV were included for comparison. All samples were examined for amount of collagen/elastin production and degradation, and presence of active EndMT by histologic analysis. RESULTS: EFE tissue from patients with and without HLHS consisted predominantly of elastin and collagen fibers. There was no alteration in degradation activity for collagen or elastin as shown by in situ zymography. Active EndMT was found in all patients with and without HLHS with flow disturbances ("EFE-like"). In patients with HLHS, EFE infiltrated into the underlying myocardium with increasing age. CONCLUSIONS: Patients with and without HLHS with flow disturbances due to stenotic or incompetent valves develop EndMT-derived fibrotic tissue covering the LV. When EFE recurs, it is directly associated with flow disturbances and switches to an infiltrative growth pattern with increasing age, leading to increased diastolic stiffness of the LV.


Assuntos
Fibroelastose Endocárdica , Síndrome do Coração Esquerdo Hipoplásico , Procedimentos Cirúrgicos Cardíacos , Criança , Pré-Escolar , Estudos de Coortes , Colágeno/metabolismo , Elastina/metabolismo , Fibroelastose Endocárdica/etiologia , Fibroelastose Endocárdica/patologia , Fibroelastose Endocárdica/fisiopatologia , Ventrículos do Coração/química , Ventrículos do Coração/patologia , Ventrículos do Coração/fisiopatologia , Ventrículos do Coração/cirurgia , Hemodinâmica/fisiologia , Humanos , Síndrome do Coração Esquerdo Hipoplásico/complicações , Síndrome do Coração Esquerdo Hipoplásico/fisiopatologia , Síndrome do Coração Esquerdo Hipoplásico/cirurgia , Lactente
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