scholarly journals Perspectives in the management of congenital heart defects in adult patients

2015 ◽  
Vol 156 (3) ◽  
pp. 92-97
Author(s):  
István Hartyánszky ◽  
Sándor Varga ◽  
Kálmán Havasi ◽  
Barna Babik ◽  
Márta Katona ◽  
...  
Keyword(s):  
Heart Transplantation ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Heart Defects ◽  
Adult Patients ◽  
Univentricular Heart ◽  
Transposition Of Great Arteries ◽  
Number Of Patients

Due to improving results in congenital heart surgery, the number of adult patients with congenital heart defect is increasing. The question is: what kind of problems can be managed in this patient-group? The authors review the different problems of management of congenital heart defects in adults based on national and international literature data. Simple defects recognised in adults, postoperative residual problems, changing of small grafts and valves, correction of primary or operated coarctation aortae can be usually managed without problems. A very close follow-up is necessary to establish the correct period for heart transplantation in patients with transposition of great arteries with Senning/Mustard operation, and univentricular heart corrected with “Fontan-circulation” type surgical procedure. The authors conclude that although the number of patients increases, only a few congenital heart diseases may cause problems. It seems important (1) to monitor asymptomatic patient who underwent operation (Fallot-IV, Ross procedure, etc.), (2) follow up regularly patients who underwent Senning/Mustard procedure (magnetic resonance imaging, echocardiography, brain natriuretic peptide measurement), (3) define the proper period of preparation for heart transplantation of patients with a univentricular heart, with special attention to the possibility of multiorgan (lung, liver, etc.) failure. Due to the improvement of foetal diagnosis of congenital heart defects, the number of patients with complex congenital heart defects is decreasing. The standard management of these patients could be primary heart transplantation in infancy. Orv. Hetil., 2015, 156(3), 92–97.

5206SICD registry in European paediatric and adult patients with congenital heart defects: preliminary results of the SIDECAR project

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
M S Silvetti ◽  
L Kornyei ◽  
J Kwiatkowska ◽  
I Tamburri ◽  
F A Saputo ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Young Patients ◽  
Adult Patients ◽  
Icd Implantation ◽  
Preliminary Results ◽  
Inappropriate Shocks ◽  
European Paediatric

Abstract Aim Use of the subcutaneous implantable cardioverter-defibrillator (S-ICD) to prevent sudden cardiac death is increasing. Few data exist on S-ICD in young patients. We report preliminary data from a multicenter European registry of paediatric and young adult patients who underwent S-ICD implantation Methods Observational, prospective, non-randomized, standard-of-care study on S-ICD implantation/follow-up in young patients with inherited arrhythmias (IA), cardiomyopathies, and congenital heart defects (CHD). Results 29 patients (12 CHD, 14 Cardiomyopathies, and 3 IA), mean age 17±6 years, 13 of them <18 years, with body mass index (BMI) 23±4, underwent S-ICD implantation (primary prevention 66%). The first 8 patients underwent a three-incision procedure, the following 21 (72%) a two-incision procedure. No intraoperative complications occurred. Over 19 months median follow-up (25th–75th percentiles, 5–37) 5 patients (17%) received appropriate and 2 (7%) inappropriate shocks. Four patients (14%) had device-related complications requiring surgical intervention: three skin erosions at the superior parasternal incision, one pocket infection. A higher risk of complications was seen in patients who underwent standard procedures [hazard ratio (HR) 14.7, 95% confidence interval (CI) 2.34 to 93.03; P=0.001] and those with BMI <20 (HR 11.06, 95% CI 1.01–121.07; P=0.008). Conclusion These preliminary results of a multicenter European paediatric registry suggest that S-ICD is safe and effective with low rates of inappropriate shocks. Improvement of implantation techniques seems associated with better outcome.

Surgical management of congenital heart defects in adolescent and adult patients, between years 2001–2008

2009 ◽  
Vol 150 (37) ◽  
pp. 1739-1743 ◽  
Author(s):  
István Hartyánszky ◽  
Andrea Székely ◽  
László Király ◽  
Zsolt Prodán ◽  
Sándor Mihályi ◽  
...  
Keyword(s):  
Surgical Management ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Adult Patients

A felnőttkorban operált veleszületett szívhibák között vezetnek az I. rekonstrukciós beavatkozások: a) frissen felismert betegségek, b) megelőzően inoperábilisnak ítélt kórképek, c) pulmonalis hypertonia, jobbkamra-elégtelenség miatt „elkésett” műtétek. Növekszik a II. REDO műtétek száma: a) residuumok korrigálása, b) kinőtt, diszfunkciós homograftok cseréje, c) műtéti/intervenciós korrigálás utáni recoarctatio (aneurysma, dissectio) sebészete, d) aorta valvulotomia/valvuloplastica, illetve társvitiumok (TGA) korrigálásának következményeként Ross-műtét, műbillentyű-beültetés . Betegek, eredmények: A 2001–2008 között végzett 4496 műtét közül 166 volt fiatal-felnőtt korú (16–52, átlagéletkor: 28 év) (Ia: 77, Ib: 15, Ic: 4, IIa: 11, IIb: 22, IIc: 9, IId: 28). Műtéti mortalitás nem volt, 1 beteg pulmonalis hypertoniás krízisben, 1 jobbkamra-elégtelenség miatti malignus ritmuszavarban, 2 többszerv-elégtelenségben halt meg. Konklúzió: A rizikófaktorokat a pulmonalis hypertonia és a jobbkamra-elégtelenség jelenti. A bonyolult sebészi megoldások a „congenitalis szívsebész” számára nem jelentenek problémát, de koraibb diagnózisok, terápiában az extracorporalis membránoxigenátor használata az eredményeket javíthatja.

scholarly journals Personalized Genetic Diagnosis of Congenital Heart Defects in Newborns

2021 ◽  
Vol 11 (6) ◽  
pp. 562
Author(s):  
Olga María Diz ◽  
Rocio Toro ◽  
Sergi Cesar ◽  
Olga Gomez ◽  
Georgia Sarquella-Brugada ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart Defects ◽  
Congenital Malformations ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Heart Defects ◽  
Genetic Diagnosis ◽  
Single Nucleotide Variants ◽  
Personalized Approach

Congenital heart disease is a group of pathologies characterized by structural malformations of the heart or great vessels. These alterations occur during the embryonic period and are the most frequently observed severe congenital malformations, the main cause of neonatal mortality due to malformation, and the second most frequent congenital malformations overall after malformations of the central nervous system. The severity of different types of congenital heart disease varies depending on the combination of associated anatomical defects. The causes of these malformations are usually considered multifactorial, but genetic variants play a key role. Currently, use of high-throughput genetic technologies allows identification of pathogenic aneuploidies, deletions/duplications of large segments, as well as rare single nucleotide variants. The high incidence of congenital heart disease as well as the associated complications makes it necessary to establish a diagnosis as early as possible to adopt the most appropriate measures in a personalized approach. In this review, we provide an exhaustive update of the genetic bases of the most frequent congenital heart diseases as well as other syndromes associated with congenital heart defects, and how genetic data can be translated to clinical practice in a personalized approach.

Fetal echocardiography in Lithuania: traditions, significance and problems

2010 ◽  
Vol 17 (3-4) ◽  
pp. 116-122
Author(s):  
Ramunė VANKEVIČIENĖ
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Fetal Echocardiography ◽  
Heart Defects ◽  
Tertiary Care ◽  
Congenital Heart Diseases ◽  
Conduction Disturbances ◽  
Tertiary Care Centers ◽  
Almost All

Background. The discovery of ultrasound has made a revolution in almost all fields of medicine. The past three decades have withessed an intensive development of fetal echocardiography methods and technique. The aim of the paper is to present a review of the results and trends of the last 10 years of fetal echocardiography in Lithuania and to show the spectrum and outcomes of prenatally detected congenital heart diseases. Materials and methods. Fetal echocardiography was performed for 1816 fetuses during the period from 1999 to 2009. Results. Cardiac pathology was diagnosed in 176 (9.7%) fetuses. Heart defects were detected in 112 (63.6%) of them, cardiac rhythm and conduction disturbances in 62 (35.2%), cardiomyopathy in 2 (1.1%) fetuses, and heart rhabdomyoma in 1 (0.6%) fetus. The general rate of the postnatal diagnosis of congenital heart defects in Lithuania was about 10%. Most of fetal cardiac diseases (70.5%) were diagnosed after 22 weeks of gestation. Because most of antenatally diagnosed congenital heart defects (74%) were critical and inconsistent with life, a large part of newborns (40.2%) died in the neonatal period, 10.7% of fetuses died in utero, and 8% of pregnancies were terminated by abortion. The data demonstrate good tendencies: the diagnosis has become earlier, a wider spectrum of diseases have been diagnosed, more newborns have survived. Our survey shows that 41.1% of newborns with prenatally diagnosed congenital heart defects have survived. Conclusions. 10% of severe congenital heart diseases are detected prenatally in Lithuania. The efficacy of antenatal diagnostics depends on the qualification of specialists, the number of tertiary care centers, on a successful collaboration among pediatric cardiologists, obstetricians and geneticists. The main problem is an insufficient preparation of obstetricians, the uncertified favor of pediatric cardiologist. Keywords: congenital heart disease, fetal echocardiography, antenatal diagnostics

scholarly journals Epigenomic and Transcriptomic Dynamics During Human Heart Organogenesis

2020 ◽  
Vol 127 (9) ◽  
Author(s):  
Jennifer VanOudenhove ◽  
Tara N. Yankee ◽  
Andrea Wilderman ◽  
Justin Cotney
Keyword(s):  
Gene Expression ◽  
Congenital Heart Defects ◽  
Human Heart ◽  
Congenital Heart ◽  
Heart Defects ◽  
Regulatory Control ◽  
Whole Genome Sequencing Data ◽  
Regulatory Sequences ◽  
Sequencing Data ◽  
Number Of Patients

Rationale: There is growing evidence that common variants and rare sequence alterations in regulatory sequences can result in birth defects or predisposition to disease. Congenital heart defects are the most common birth defect and have a clear genetic component, yet only a third of cases can be attributed to structural variation in the genome or a mutation in a gene. The remaining unknown cases could be caused by alterations in regulatory sequences. Objective: Identify regulatory sequences and gene expression networks that are active during organogenesis of the human heart. Determine whether these sites and networks are enriched for disease-relevant genes and associated genetic variation. Methods and Results: We characterized ChromHMM (chromatin state) and gene expression dynamics during human heart organogenesis. We profiled 7 histone modifications in embryonic hearts from each of 9 distinct Carnegie stages (13–14, 16–21, and 23), annotated chromatin states, and compared these maps to over 100 human tissues and cell types. We also generated RNA-sequencing data, performed differential expression, and constructed weighted gene coexpression networks. We identified 177 412 heart enhancers; 12 395 had not been previously annotated as strong enhancers. We identified 92% of all functionally validated heart-positive enhancers (n=281; 7.5× enrichment; P <2.2×10 −16 ). Integration of these data demonstrated novel heart enhancers are enriched near genes expressed more strongly in cardiac tissue and are enriched for variants associated with ECG measures and atrial fibrillation. Our gene expression network analysis identified gene modules strongly enriched for heart-related functions, regulatory control by heart-specific enhancers, and putative disease genes. Conclusions: Well-connected hub genes with heart-specific expression targeted by embryonic heart-specific enhancers are likely disease candidates. Our functional annotations will allow for better interpretation of whole genome sequencing data in the large number of patients affected by congenital heart defects.

scholarly journals Impact of 3D Printing on Short-Term Outcomes of Biventricular Conversion From Single Ventricular Palliation for the Complex Congenital Heart Defects

2021 ◽  
Vol 8 ◽  
Author(s):  
Bozhong Shi ◽  
Yanjun Pan ◽  
Weiru Luo ◽  
Kai Luo ◽  
Qi Sun ◽  
...  
Keyword(s):  
3D Printing ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Vena Cava ◽  
Left Ventricular ◽  
Long Term Results ◽  
Short Term ◽  
The Mean

Background: Although Fontan palliation seems to be inevitable for many patients with complex congenital heart defects (CHDs), candidates with appropriate conditions could be selected for biventricular conversion. We aimed to summarize our single-center experience in patient selection, surgical strategies, and early outcomes in biventricular conversion for the complex CHD.Methods: From April 2017 to June 2021, we reviewed 23 cases with complex CHD who underwent biventricular conversion. Patients were divided into two groups according to the development of the ventricles: balanced ventricular group (15 cases) and imbalanced ventricular group (8 cases). Early and short-term outcomes during the 30.2 months (range, 4.2–49.8 months) follow-up period were compared.Results: The overall mortality rate was 4.3% with one death case. In the balanced ventricular group, 6 cases received 3D printing for pre-operational evaluation. One case died because of heart failure in the early postoperative period. One case received reoperation due to the obstruction of the superior vena cava. In the imbalanced ventricular group, the mean left ventricular end-diastolic volume was (33.6 ± 2.1) ml/m2, the mean left ventricular end-diastolic pressure was 9.1 ± 1.9 mmHg, and 4 cases received 3D printing. No death occurred while one case implanted a pacemaker due to a third-degree atrioventricular block. The pre-operational evaluation and surgery simulation with a 3D printing model helped to reduce bypass time in the balanced group (p &lt; 0.05), and reduced both bypass and aorta clamp time in the imbalanced group (p &lt; 0.05). All patients presented great cardiac function in the follow-up period.Conclusion: Comprehensive evaluation, especially 3D printing technique, was conducive to finding the appropriate cases for biventricular conversion and significantly reduced surgery time. Biventricular conversion in selected patients led to promising clinical outcomes, albeit unverified long-term results.

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