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Congenital Heart Disease: Clinical Practice, Prognosis and Outcome

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A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Cardiology".

Deadline for manuscript submissions: closed (25 April 2023) | Viewed by 20511

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Prof. Dr. Gerhard-Paul Diller

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1. Department of Cardiology III - Adult Congenital and Valvular Heart Disease, University Hospital Muenster, Muenster, Germany
2. Royal Brompton Hospital, London, UK
Interests: adult congenital heart disease; pulmonary hypertension; big data research; outcome; prognosis; machine learning

Special Issue Information

Dear Colleagues,

Congenital heart disease is a field in which disruptive innovation and progress have globally transformed the lives of millions of people born with the condition over the last decades. However, far from being cured the majority of patients continue to be afflicted by ongoing morbidity and mortality. Congenital heart disease represents a chronic, life-long disease that affects multiple organ systems beyond the heart and the lungs. Continuing global efforts are required to improve the fate of people born with congenital heart disease. These include research focusing on clinical management, prognostication, and disease modification. As a result of the heterogeneity of the condition and fragmented care pattern, new concepts of big data analysis and machine learning will be essential in this context. We cordially invite contributions across the spectrum of disease for this unique issue focusing on the evolving cohort of patients with congenital heart disease.

Kind regards,

Prof. Gerhard-Paul Diller
Guest Editor

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Keywords

Congenital heart disease
prognosis
outcome
clinical management
congenital heart surgery

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Research

10 pages, 930 KiB

Open AccessArticle

Heart Disease Characterization and Myocardial Strain Analysis in Patients with PACS1 Neurodevelopmental Disorder

by Ana Latorre-Pellicer, Laura Trujillano, Julia del Rincón, Mónica Peña-Marco, Marta Gil-Salvador, Cristina Lucia-Campos, María Arnedo, Beatriz Puisac, Feliciano J. Ramos, Ariadna Ayerza-Casas and Juan Pié

J. Clin. Med. 2023, 12(12), 4052; https://doi.org/10.3390/jcm12124052 - 14 Jun 2023

Viewed by 1424

Abstract

Background: PACS1 neurodevelopmental disorder (PACS1-NDD) (MIM# 615009) is a rare autosomal dominant disease characterized by neurodevelopmental delay, dysmorphic facial features, and congenital malformations. Heart disease (HD) is frequently present in individuals with PACS1-NDD, but a compressive review of these anomalies and an evaluation of cardiac function in a cohort of patients are lacking. Methods: (i) Cardiac evaluation in 11 PACS1-NDD patients was conducted using conventional echocardiography. (ii) Heart function was assessed by tissue Doppler imaging, and two-dimensional speckle tracking was performed in seven patients and matched controls. (iii) This systematic review focused on determining HD prevalence in individuals with PACS1-NDD. Results: In our cohort, 7 of 11 patients presented HD. (Among them, three cases of ascending aortic dilatation (AAD) were detected and one mitral valve prolapse (MVP).) None of the patients showed echocardiographic pathological values, and the left global longitudinal strain was not significantly different between patients and controls (patients −24.26 ± 5.89% vs. controls −20.19 ± 1.75%, p = 0.3176). In the literature review, almost 42% (42/100) of individuals with PACS1-NDD reportedly experienced HD. Septal defects were the most common malformation, followed by patent ductus arteriosus. Conclusions: Our results show a high prevalence of HD in PACS1-NDD patients; in this way, AAD and MVP are reported for the first time in this syndrome. Furthermore, a detailed cardiac function evaluation in our cohort did not reveal evidence of cardiac dysfunction in individuals with PACS1-NDD. Cardiology evaluation should be included for all individuals with Schuurs-Hoeijmakers syndrome. Full article

(This article belongs to the Special Issue Congenital Heart Disease: Clinical Practice, Prognosis and Outcome)

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9 pages, 245 KiB

Open AccessArticle

The Prevalence of and Predisposing Factors for Late Atrial Arrhythmias after Transcatheter Closure of Secundum Atrial Septal Defects in Children

by Tariq Abu-Tair, Claudia Martin, Christiane M. Wiethoff and Christoph Kampmann

J. Clin. Med. 2023, 12(11), 3717; https://doi.org/10.3390/jcm12113717 - 28 May 2023

Cited by 1 | Viewed by 1407

Abstract

Background: A 24 h Holter study in children after transcatheter secundum ASD (ASD II) closure was conducted to detect the prevalence of defects and/or device-related late atrial arrhythmias (LAAs). ASD II closure with an Amplatzer septal occluder (ASO) is an established procedure. Little is known about LAAs after device implantation. Methods: The eligible participants were children who had undergone ASO implantation, with a follow-up of ≥5 years, as well as one pre- and at least one post-procedural Holter ECG. Results: In total, 161 patients (mean age: 6.2 ± 4.3 years), with a mean follow-up of 12.9 ± 3.1 years (range 5–19), were included. A median of four Holter ECGs per patient were available. LAAs occurred before intervention in four patients (2.5%), and it was peri-interventional in four patients (2.5%), sustained in three patients (1.9%), and developed in three patients (1.9%). In patients with pre- and peri-interventional LAAs, the Qp/Qs ratio was higher (6.4 ± 3.9 vs. non-AA: 2.0 ± 1.1 (p = 0.002)) and the IAS/ASO ratio was lower (1.18 ± 0.27 vs. non-AA: 1.7 ± 0.4 (p < 0.001)). The patients with LAAs differed from those without LAAs in their Qp/Qs (6.8 ± 3.5 vs. 2.0 ± 1.3; p < 0.0001) and IAS/ASO ratios (1.14 ± 0.19 vs. 1.73 ± 0.45; p < 0.001). The patients with LAAs had a Qp/Qs ratio ≥2.94:1, and those who developed LAAs had an IAS/ASO ratio <1.15. Conclusions: LAAs occurred in 1.9% of patients and were sustained in another 1.9% of patients but persisted in those with large shunt defects and large occluders in relation to the atrial septal length. The predisposing factors for LAAs after ASD closure were a high Qp/Qs ratio, pre-existing atrial arrhythmias, and a low IAS/ASO ratio. Full article

(This article belongs to the Special Issue Congenital Heart Disease: Clinical Practice, Prognosis and Outcome)

11 pages, 856 KiB

Open AccessArticle

Optimal Heart Rate May Improve Systolic and Diastolic Function in Patients with Fontan Circulation

by Keiichi Hirono, Teruhiko Imamura, Kaori Tsuboi, Shinya Takarada, Mako Okabe, Hideyuki Nakaoka, Keijiro Ibuki and Sayaka Ozawa

J. Clin. Med. 2023, 12(8), 3033; https://doi.org/10.3390/jcm12083033 - 21 Apr 2023

Viewed by 1510

Abstract

(1) Background: The optimal heart rate, at which the E-wave and A-wave stand adjacent without any overlaps in the Doppler transmitral flow echocardiography, is associated with maximum cardiac output and favorable clinical outcomes in adult patients with systolic heart failure. However, the clinical implication of the echocardiographic overlap length in patients with Fontan circulation remains unknown. We investigated the relationship between heart rate (HR) and hemodynamics in Fontan surgery patients with and without beta-blockers. (2) Methods and Results: A total of 26 patients (median age 1.8 years, 13 males) were enrolled. At baseline, the plasma N-terminal pro-B-type natriuretic peptide was 2439 ± 3483 pg/mL, the fraction area change was 33.5 ± 11.4%, the cardiac index was 3.55 ± 0.90 L/min/m², and the overlap length was 45.2 ± 59.0 msec. Overlap length was importantly decreased after the one-year follow-up (7.60 ± 78.57 msec, p = 0.0069). Positive correlations were noted between the overlap length and A-wave and E/A ratio (p = 0.0021 and p = 0.0046, respectively). Ventricular end-diastolic pressure was significantly correlated with the overlap length in non-beta-blocker patients (p = 0.0483). (3) Conclusion: Overlap length may reflect the status of ventricular dysfunction. Hemodynamic preservation at lower HR could be critical for cardiac reverse remodeling. Full article

(This article belongs to the Special Issue Congenital Heart Disease: Clinical Practice, Prognosis and Outcome)

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11 pages, 875 KiB

Open AccessArticle

Association between Genotype, Presentation, and Outcome in Childhood Idiopathic and Hereditary Pulmonary Arterial Hypertension

by Zhuoyuan Xu, Hongsheng Zhang, Chen Zhang, Qiangqiang Li and Hong Gu

J. Clin. Med. 2022, 11(24), 7331; https://doi.org/10.3390/jcm11247331 - 9 Dec 2022

Cited by 2 | Viewed by 1641

Abstract

Background: Paediatric-onset idiopathic/hereditary pulmonary arterial hypertension (IPAH/HPAH) is partially linked to genetic factors that may also affect treatment response and outcome. The relation between clinical characteristics and pathogenicity of gene variants in childhood IPAH/HPAH is still not well understood. Methods: We retrospectively analyzed IPAH/HPAH paediatric patients aged between 3 months and 18 years under follow-up at a large tertiary referral center. Whole-exome sequencing focused on PAH high-risk genes was performed in all patients. Pathogenicity grading of gene variant sites was assessed using ClinVar and population frequencies. The association between gene variants and death was studied using Cox proportional multivariate models. Results: Overall, 129 patients (54.3% females; 91.5% on PAH therapy) with a median age at diagnosis of 6.8 (IQR 3.4–10.7) years were included. A relevant PAH gene variant was detected in 95 patients (73.6%). The most common variants were in the BMPR2 (n = 43, 3%) gene. Over a median follow-up period of 27.6 months, 26 children died. The presence of a likely pathogenic genetic variant was significantly associated with survival (HR: 3.56, p = 0.005) on multivariable Cox analysis. The number of PAH-specific drugs at presentation was associated with better survival in the cohort with pathogenic variants (p = 0.02). Conclusions: Pathogenic/likely pathogenic genetic variants are prevalent in children with PAH and are related to a worse prognosis irrespective of other recognized risk factors in this population. Combination PAH therapy was associated with superior prognosis in children with pathogenic variants or BMPR2 variants. Therefore, proactive medical therapy should be employed in this population. Full article

(This article belongs to the Special Issue Congenital Heart Disease: Clinical Practice, Prognosis and Outcome)

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10 pages, 447 KiB

Open AccessArticle

Right Heart Catheterization in Pediatric Pulmonary Arterial Hypertension: Insights and Outcome from a Large Tertiary Center

by Zhuoyuan Xu, Hongsheng Zhang, Alexandra Arvanitaki, Chen Zhang, Qiangqiang Li, Bradley B. Keller and Hong Gu

J. Clin. Med. 2022, 11(18), 5374; https://doi.org/10.3390/jcm11185374 - 13 Sep 2022

Cited by 2 | Viewed by 1643

Abstract

Aim: To define the clinical characteristics, hemodynamics, and adverse events for pediatric patients with pulmonary arterial hypertension (PAH) undergoing right heart catheterization (RHC). Methods: The large referral single center data of 591 diagnostic RHC procedures performed between 2005 and 2020 on pediatric PAH patients was retrospectively collected and analyzed. Results: A total of 591 RHC procedures performed on 469 patients with congenital heart disease (CHD)-PAH (median age 8.8 years, 7.9% New York Heart Association (NYHA) class > II, 1.5% with syncope) and 122 patients with idiopathic PAH (median age of 9.0 years, 27.0% NYHA class > II, 27.0% with syncope) were included. Of those, 373 (63.1%) procedures were performed under general anesthesia. Eighteen patients (18/591, 3.0%) suffered adverse events (mainly pulmonary hypertensive crisis, PHC, n = 17) during the RHC procedure, including 14 idiopathic pulmonary arterial hypertension (IPAH) patients and 4 CHD-PAH patients, and one IPAH patient died in hospital 63 hours after RHC. The risk of developing PHC was significantly increased in patients with IPAH (OR = 14.02, 95%CI: 4.49–43.85, p < 0.001), atrial blood gas pH < 7.35 (OR = 12.504, 95%CI: 3.545–44.102, p < 0.001) and RAP > 14 mmHg (OR = 10.636, 95%CI: 3.668–30.847, p < 0.001). Conclusions: RHC is generally a low-risk procedure in pediatric patients with PAH. However, PHC occur in approximately 3% of patients. Therefore, RHC should be performed in a large, experienced referral pediatric cardiology center, especially in pediatric patients with IPAH requiring general anesthesia. Full article

(This article belongs to the Special Issue Congenital Heart Disease: Clinical Practice, Prognosis and Outcome)

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11 pages, 1219 KiB

Open AccessArticle

Safety and Efficacy of the Nit-Occlud^® Coil for Percutaneous Closure of Various Sizes of PDA

by Seyong Jung, Jaehee Seol, Jaeyoung Choi and Keesoo Ha

J. Clin. Med. 2022, 11(9), 2469; https://doi.org/10.3390/jcm11092469 - 28 Apr 2022

Cited by 1 | Viewed by 1991

Abstract

Most interventionalists use the Amplatzer Duct Occluder (ADO) or the Nit-Occlud^® Coils (NOC) to close patent ductus arteriosus (PDA). Data regarding the success and effect of NOCs in the occlusion of large PDAs are insufficient. We aimed to investigate whether the PDA occlusion of large PDAs using NOC is safe and efficient for all ages. This was a retrospective study involving 361 pediatric and adult patients who underwent the transcatheter closure of PDA using NOC over the past 21 years for all PDA sizes and ages. The sizes of PDA were classified as small, moderate, and large. A comparison of the aortic pressure before and after PDA occlusion using NOC showed significant differences in terms of systolic and pulse pressures for all age groups (p < 0.05). The rate of the residual shunts of NOC was 2%, while the rate of complete occlusions of NOC was 98% at 12 months after occlusion regardless of the shape of PDA. The complication rate with PDA occlusion using NOC was 5%. PDA occlusion using NOC is as effective and safe as ADO for the occlusion of PDA of all sizes. Therefore, PDA occlusion using NOC can be a safe and feasible procedure to close various sizes and types of PDA without complications. Full article

(This article belongs to the Special Issue Congenital Heart Disease: Clinical Practice, Prognosis and Outcome)

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11 pages, 334 KiB

Open AccessArticle

Frequency, Mortality, and Predictors of Adverse Outcomes for Endocarditis in Patients with Congenital Heart Disease: Results of a Nationwide Analysis including 2512 Endocarditis Cases

by Maarja Maser, Eva Freisinger, Leo Bronstein, Jeanette Köppe, Stefan Orwat, Gerrit Kaleschke, Helmut Baumgartner, Gerhard-Paul Diller and Astrid Lammers

J. Clin. Med. 2021, 10(21), 5071; https://doi.org/10.3390/jcm10215071 - 29 Oct 2021

Cited by 14 | Viewed by 2056

Abstract

Background: Infective endocarditis (IE) represents a major complication in patients with congenital heart disease (CHD) and is associated with high morbidity and mortality. The aim of this study was to analyse the frequency and outcome of IE in contemporary CHD patients based on all IE hospital admissions in Germany over a 10-year period. Methods: Based on data of all hospital admissions in Germany from 2009 to 2018, we identified all CHD cases with a diagnosis of IE. The data contained information on patient demographics, diagnoses, surgical procedures, and mortality. The primary endpoint of the study was endocarditis-associated mortality as well as major adverse events (defined as death or myocardial infarction, stroke, pulmonary embolism, sepsis, renal dialysis, resuscitation, or intubation). Results: Overall, 309,245 CHD inpatient cases were included in the analysis (underlying heart defects of simple complexity 55%, moderate complexity 23%, and complex heart defects 22%, respectively). Of those, 2512 (0.8% of all inpatient cases) were treated for IE. The mortality rate of IE inpatient cases was 6% with a major adverse events rate of 46%, and 41.5% of cases required surgical intervention. The overall IE associated mortality was lower in adult CHD cases compared to the 153,242 in adult IE cases without CHD (7.1% vs. 16.1%, p < 0.001). After adjustments using multivariable logistic regression analysis, the presence or complexity of CHD was not associated with the outcomes. Meanwhile, age, male sex, and co-morbidities emerged as significant predictors of adverse outcomes. Conclusions: IE accounts for a minority of CHD related hospitalizations but remains a deadly disease, and major adverse events are common in this setting. Due to different demographic and co-morbidity spectrums, adult CHD patients tend to have better survival prospects when compared to non-CHD IE patients. Acquired co-morbidities emerged as the main predictors of adverse outcomes. Full article

(This article belongs to the Special Issue Congenital Heart Disease: Clinical Practice, Prognosis and Outcome)

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8 pages, 1321 KiB

Open AccessArticle

Secundum Type Atrial Septal Defect in Patients with Trisomy 21—Therapeutic Strategies, Outcome, and Survival: A Nationwide Study of the German National Registry for Congenital Heart Defects

by Astrid E. Lammers, Julia Stegger, Marc-André Koerten, Paul C. Helm, Ulrike M. Bauer, Helmut Baumgartner and Anselm S. Uebing

J. Clin. Med. 2021, 10(17), 3807; https://doi.org/10.3390/jcm10173807 - 25 Aug 2021

Cited by 3 | Viewed by 2678

Abstract

(1) Secundum type atrial septal defect (ASD II) is usually considered a relatively benign cardiac lesion amenable to elective closure at preschool age. Patients with trisomy 21 (T21), however, are known to have a higher susceptibility for pulmonary vascular disease (PVD). Therefore, T21 children may present with clinical symptoms earlier than those without associated anomalies. In addition, early PVD may even preclude closure in selected T21 patients. (2) We performed a retrospective analysis of the German National Register for Congenital Heart Defects including T21 patients with associated isolated ASD II. We report incidence, demographics, therapeutic strategy, outcome, and survival of this cohort. (3) Of 46,628 patients included in the registry, 1549 (3.3%) had T21. Of these, 156 (49.4% female) had an isolated ASD II. Fifty-four patients (34.6%) underwent closure at 6.4 ± 9.9 years of age. Over a cumulative follow-up (FU) of 1148 patient-years, (median 7.4 years), only one patient developed Eisenmenger syndrome and five patients died. Survival of T21 patients without PVD was not statistically different to age- and gender-matched controls from the normal population (p = 0.62), whereas children with uncorrected T21/ASD II (including patients with severe PVD, in whom ASD-closure was considered contraindicated) showed a significantly higher mortality. (4) The outcome of T21-patients with ASD II and without PVD is excellent. However, PVD, either precluding ASD-closure or development of progressive PVD after ASD-closure, is associated with significant mortality in this cohort. Thus T21 patients with ASD II who fulfill general criteria for closure and without PVD should be offered defect closure analogous to patients without T21. Full article

(This article belongs to the Special Issue Congenital Heart Disease: Clinical Practice, Prognosis and Outcome)

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12 pages, 4594 KiB

Open AccessArticle

Optimizing Care for Adults with Congenital Heart Disease: Results of a Conjoint Analysis Based on a Nationwide Sample of Patients Included in the German National Register

by Astrid E. Lammers, Paul C. Helm, Ulrike M. Bauer, Ann-Kathrin van Huelsen, Helmut Schneider, Helmut Baumgartner and Gerhard-Paul Diller

J. Clin. Med. 2021, 10(16), 3483; https://doi.org/10.3390/jcm10163483 - 6 Aug 2021

Cited by 5 | Viewed by 1991

Abstract

(1) Background: Congenital heart disease (CHD) requires lifelong specialized care. Failure to follow up and gaps in care are common in this group and lead to increased morbidity/mortality. We evaluated patients’ perceived needs and expectations regarding specialized care using state-of-the-art statistical and market research techniques based on a nationwide sample of CHD patients. (2) Methods: A random sample of adults with CHD registered in the German National Register for Congenital Heart Defects were invited to answer an adaptive online questionnaire based on the conjoint analysis (CA) technique. CA determines the relative importance of various aspects of health care provision and allows individuals to trade between characteristics, thus recognizing limited resources. (3) Results: 637 patients participated (mean age 33.8 ± 12.6 years; 55.6% female; disease complexity: simple defect 12.6%, moderate complexity 40.3%, complex CHD 40.2%) in the analysis. Patients assigned the highest relative importance to aspects of patient–physician communication, physician qualifications, waiting time, medical care, and medical equipment. Comfort-related aspects such as driving time or hotel aspects of care received much lower scores. We identified four well-defined clusters of patients with differing expectation patterns: (i) time sensitive patients; (ii) excellence seeking patients; (iii) continuity seekers, and (iv) support seeking patients. (4) Conclusions: Adult CHD patients rank effective patient–physician interaction and communication as the most important factors. As we identified significant heterogeneity between CHD patients, centers should cater for individual preferences and integrate individual needs into treatment plans to prevent failure to follow up and ensure patient compliance. Full article

(This article belongs to the Special Issue Congenital Heart Disease: Clinical Practice, Prognosis and Outcome)

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10 pages, 636 KiB

Open AccessArticle

Cerebral and Somatic Oxygen Saturation in Neonates with Congenital Heart Disease before Surgery

by Mi Jin Kim, Jae Suk Baek, Jung A Kim, Seul Gi Cha and Jeong Jin Yu

J. Clin. Med. 2021, 10(11), 2455; https://doi.org/10.3390/jcm10112455 - 1 Jun 2021

Cited by 7 | Viewed by 2590

Abstract

Background: We investigated preoperative cerebral (ScO₂) and abdominal (StO₂) regional oxygen saturations according to cardiac diagnosis in neonates with critical CHD, their time trends, and the clinical and biochemical parameters associated with them. Methods: Thirty-seven neonates with a prenatal diagnosis of CHD were included. ScO₂ and StO₂ values were continuously evaluated using near-infrared spectroscopy. Measurements were obtained hourly before surgery. A linear mixed effects model was used to assess the effects of time and cardiac diagnosis on regional oxygenation and to explore the contributing factors. Results: Regional oxygenation differed according to cardiac diagnosis (p < 0.001). ScO₂ was lowest in the patients with severe atrioventricular valvar regurgitation (AVVR) (48.1 ± 8.0%). StO₂ tended to be lower than ScO₂, and both worsened gradually during the period between birth and surgery. There was also a significant interaction between cardiac diagnosis and time. The factors related to ScO₂ were hemoglobin and arterial saturation, whereas no factor was associated with StO₂. Conclusions: Preoperative ScO₂ and StO₂ in critical CHD differed according to cardiac diagnosis. ScO₂ in the patients with severe AVVR was very low, which may imply cerebral hypoxia. ScO₂ gradually decreased, suggesting that the longer the time to surgery, the higher the risk of hypoxic brain injury. Full article

(This article belongs to the Special Issue Congenital Heart Disease: Clinical Practice, Prognosis and Outcome)

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