Infective endocarditis in adults with congenital heart disease: Contemporary management and related outcomes in Central and South-Eastern European region

Brida, Margarita; Balint, H; Bence, A; Panfile, Elena; Prokšelj, Katja; Kacar, Polona; Lebid, Ihor H; Šimková, Iveta; Bobocka, K; Meidrops, Kristians; Strenge, Agnese; Perčin, Luka; Kapleriene, Lina; Gumbienė, Lina; Tomkiewicz‐Pająk, Lidia; Komar, Monika; Roos‐Hesselink, Jolien W.; Diller, Gerhard‐Paul

doi:10.1016/j.ijcard.2023.01.012

Cited by 9 publications

(4 citation statements)

References 17 publications

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“…It is well known that the risk of infective endocarditis is 15-140 times higher for patients with congenital heart defects than in the rest of the population [3,10]. Moreover, it has recently been shown that there is clear delay in establishing IE diagnosis amongst CHD patients in Central and South-Eastern European countries [11]. However, relative to other congenital diseases, the association between ASD and IE is very rare, at only around 0.4% [12,13].…”

Section: Current Reports and Actual Evidencementioning

confidence: 99%

Surgical Atrial Septal Patch Endocarditis in a Patient with a Complete Corrected Atrioventricular Canal Defect: A Case Report and Review of the Literature

Șerban

Achim²,

Gavan³

et al. 2023

Diagnostics

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Infective endocarditis (IE) is common in patients with corrected congenital heart disease (CHD) with a residual lesion, but is rarely found on surgical patches used to close atrial septal defects (ASDs). This is also reflected in the current guidelines that do not recommend antibiotic therapy for patients with a repaired ASD with no residual shunt six months after closure (percutaneous or surgical). However, the situation could be different in the case of mitral valve endocarditis, which causes leaflet disruption with severe mitral insufficiency and could seed the surgical patch. We present herein a 40-year-old male patient with a past medical history of a complete surgically corrected atrioventricular canal defect performed in childhood who presented with fever, dyspnea and severe abdominal pain. Transthoracic and transesophageal echocardiography (TTE and TEE) revealed vegetation at the level of the mitral valve and the interatrial septum. The CT scan confirmed ASD patch endocarditis and multiple septic emboli, guiding the therapeutic management. An accurate evaluation of cardiac structures should be mandatory when a systemic infection is detected in CHD patients, even if the defects were surgically corrected, because the detection and eradication of such infectious foci as well as a surgical reintervention are particularly difficult to achieve in this subpopulation.

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Section: Current Reports and Actual Evidencementioning

confidence: 99%

Surgical Atrial Septal Patch Endocarditis in a Patient with a Complete Corrected Atrioventricular Canal Defect: A Case Report and Review of the Literature

Șerban

Achim²,

Gavan³

et al. 2023

Diagnostics

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“…As an array of cardiovascular developmental deformations, CHD is clinically categorized into > 30 distinct isoforms, encompassing double-outlet right ventricle (DORV) and ventricular septal defect (VSD) [2,[7][8][9][10][11][12][13][14]. Though certain mild/minor forms of CHD may resolve spontaneously [2], severe/complex forms of CHD usually lead to worse quality of life [15][16][17], reduced exercise performance [18][19][20][21], neurodevelopmental delay and structural brain anomaly [22][23][24][25][26], ischemic/thromboembolic stroke [27,28], acute renal injury/chronic kidney disease [29][30][31][32], hepatic fibrosis [33,34], pulmonary dysplasia/ pulmonary arterial hypertension [35][36][37], bacte-Am J Transl Res 2024;16 (5):2034-2048 rial endocarditis [38][39][40][41][42], chronic heart failure [43][44][45], supraventricular/ventricular arrhythmias [46][47]…”

Section: Introductionmentioning

confidence: 99%

Discovery and functional investigation of BMP4 as a new causative gene for human congenital heart disease

Wang

2024

Am J Transl Res

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Objective: Aggregating evidence highlights the strong genetic basis underpinning congenital heart disease (CHD). Here BMP4 was chosen as a prime candidate gene causative of human CHD predominantly because BMP4 was amply expressed in the embryonic hearts and knockout of Bmp4 in mice led to embryonic demise mainly from multiple cardiovascular developmental malformations. The aim of this retrospective investigation was to discover a novel BMP4 mutation underlying human CHD and explore its functional impact. Methods: A sequencing examination of BMP4 was implemented in 212 index patients suffering from CHD and 236 unrelated non-CHD individuals as well as the family members available from the proband carrying a discovered BMP4 mutation. The impacts of the discovered CHD-causing mutation on the expression of NKX2-5 and TBX20 induced by BMP4 were measured by employing a dual-luciferase analysis system. Results: A new heterozygous BMP4 mutation, NM_001202.6:c.318T>G;p. (Tyr106*), was found in a female proband affected with familial CHD. Genetic research of the mutation carrier's relatives unveiled that the truncating mutation was in co-segregation with CHD in the pedigree. The nonsense mutation was absent from 236 unrelated non-CHD control persons. Quantitative biologic measurement revealed that Tyr106*-mutant BMP4 failed to induce the expression of NKX2-5 and TBX20, two genes whose expression is lost in CHD. Conclusion: The current findings indicate BMP4 as a new gene predisposing to human CHD, allowing for improved prenatal genetic counseling along with personalized treatment of CHD patients.

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“…As a vast collection of cardiovascular developmental anomalies, CHD is clinically assorted to >26 diverse isoforms, including patent ductus arteriosus (PDA), aortic/pulmonary atresia, aortic/pulmonary stenosis, aortic coarctation, aortopulmonary window, atrial/ ventricular septal defect, tetralogy of Fallot (the Am J Transl Res 2024;16(1):109-125 commonest cyanotic CHD), atrioventricular septal defect, single ventricle, endocardial cushion defect, transposition of the major arteries, double outlet right ventricle, aortic arch interruption, abnormal coronary artery connection, cor triatriatum, and left heart hypoplasia/left ventricular noncompaction/spongy myocardium [2,[6][7][8][9][10][11]. Though some minor types of CHD do resolve spontaneously [2], severe types of CHD may give rise to degraded health-correlated quality of life [12][13][14][15], impaired exercise capacity [16][17][18], pulmonary arterial hypertension [19][20][21], acute brain injury and delayed neurodevelopment [22][23][24][25], thromboembolic/ischemic cerebral stroke [26][27][28], acute renal injury and chronic kidney disease [29][30][31], liver fibrosis and dysfunction [32], infective endocarditis [33][34][35][36][37], chronic/congestive heart failure [38][39][40], miscellaneous supraventricular and life-threatening ventricular dysrhythmias [41]…”

Section: Introductionmentioning

confidence: 99%

Discovery of BMP10 as a new gene underpinning congenital heart defects

Dong

2024

Am J Transl Res

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Objective: Aggregating evidence convincingly establishes the predominant genetic basis underlying congenital heart defects (CHD), though the heritable determinants contributing to CHD in the majority of cases remain elusive. In the current investigation, BMP10 was selected as a prime candidate gene for human CHD mainly due to cardiovascular developmental abnormalities in Bmp10-knockout animals. The objective of this retrospective study was to identify a new BMP10 mutation responsible for CHD and characterize the functional effect of the identified CHD-causing BMP10 mutation. Methods: Sequencing assay of BMP10 was fulfilled in a cohort of 276 probands with various CHD and a total of 288 non-CHD volunteers. The available family members from the proband harboring an identified BMP10 mutation were also BMP10-genotyped. The effect of the identified CHD-causative BMP10 mutation on the transactivation of TBX20 and NKX2.5 by BMP10 was quantitatively analyzed in maintained HeLa cells utilizing a dual-luciferase reporter assay system. Results: A novel heterozygous BMP10 mutation, NM_014482.3:c.247G>T;p.(Glu83*), was identified in one proband with patent ductus arteriosus (PDA), which was confirmed to co-segregate with the PDA phenotype in the mutation carrier's family. The nonsense mutation was not observed in 288 non-CHD volunteers. Functional analysis unveiled that Glu83*-mutant BMP10 had no transactivation on its two representative target genes TBX20 and NKX2.5, which were both reported to cause CHD. Conclusion: These findings provide strong evidence indicating that genetically compromised BMP10 predisposes human beings to CHD, which sheds light on the new molecular mechanism that underlies CHD and allows for antenatal genetic counseling and individualized precise management of CHD.

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Infective endocarditis in adults with congenital heart disease: Contemporary management and related outcomes in Central and South-Eastern European region

Cited by 9 publications

References 17 publications

Surgical Atrial Septal Patch Endocarditis in a Patient with a Complete Corrected Atrioventricular Canal Defect: A Case Report and Review of the Literature

Surgical Atrial Septal Patch Endocarditis in a Patient with a Complete Corrected Atrioventricular Canal Defect: A Case Report and Review of the Literature

Discovery and functional investigation of BMP4 as a new causative gene for human congenital heart disease

Discovery of BMP10 as a new gene underpinning congenital heart defects

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