Recent advances in multimodal imaging in tetralogy of fallot and double outlet right ventricle.

PURPOSE OF REVIEW: In the ever-evolving field of medical imaging, this review highlights significant advancements in preoperative and postoperative imaging for Tetralogy of Fallot (TOF) and double outlet right ventricle (DORV) over the past 18 months. RECENT FINDINGS: This review showcases innovations in echocardiography such as 3D speckle tracking echocardiography (3DSTE) for assessing right ventricle-pulmonary artery coupling (RVPAC) and Doppler velocity reconstruction (DoVeR) for intracardiac flow fields evaluation. Furthermore, advances in assessment of cardiovascular anatomy using computed tomography (CT) improve the integration of imaging in ablation procedures. Additionally, the inclusion of cardiac magnetic resonance (CMR) parameters as risk score predictors for morbidity, and mortality and for timing of pulmonary valve replacement (PVR) indicates its significance in clinical management. The utilization of 4D flow techniques for postoperative hemodynamic assessment promises new insights into pressure mapping. Lastly, emerging technologies such as 3D printing and 3D virtual reality are expected to improve image quality and surgical confidence in preoperative planning. SUMMARY: Developments in multimodality imaging in TOF and DORV are poised to shape the future of clinical practice in this field.

A Pediatric Primary Cardiac Spindle Cell Neoplasm With a Rare PDGFRA::USP8 Gene Fusion: A Case Report.

We report a case of a primary cardiac spindle cell neoplasm with concerning histological features and a rare PDGFRA::USP8 gene fusion in a 3 year old boy. The patient presented with a large cardiac mass predominantly in the right ventricle, originating from the ventricular septum. The mass was resected with grossly negative margins. Pathology revealed an unclassified spindle cell neoplasm with a PDGFRA::USP8 gene fusion. This gene fusion has only been previously reported twice in the medical literature, one in a pediatric cardiac sarcoma and the other in an abdominal soft tissue tumor in an adult woman. The patient is alive and well with no evidence of recurrence 11 months after excision.

Assessment of liver fibrosis using a 3-dimensional high-resolution late gadolinium enhancement sequence in children and adolescents with Fontan circulation.

OBJECTIVES: To assess abnormal liver enhancement on 15-20 min delayed 3D high-resolution late gadolinium enhancement (3D HR LGE) sequence in patients with Fontan circulation. METHODS: Retrospective study of pediatric Fontan patients (< 18 years old) with combined cardiac-liver MRI from January 2018 to August 2021. Abnormal hepatic enhancement was graded (0-3) for each lobe, summed for a total liver enhancement score (0-6), and compared to repaired tetralogy of Fallot (rTOF) patients. Correlations with other hepatic imaging biomarkers were performed. Temporal relationships of enhancement compared to traditional early portal venous and 5-7-min delayed phase liver imaging were analyzed. RESULTS: The Fontan group (n = 35, 13 ± 3.4 years old, median time from Fontan 10 (9-12) years) had 23/35 (66%) with delayed 3D HR LGE total liver enhancement score > 0 (range 0-5), with greater involvement of the right lobe (1 (0-1) vs 0 (0-1), p < 0.01). The rTOF group (n = 35, 14 ± 2.6 years old) had no abnormal enhancement. In the Fontan group, total liver enhancement was 3 (2-4) in the early portal venous phase, lower at 1 (1-2) in the 5-7-min delayed phase (p < 0.01), and lowest at 1 (0-2) in the 15-20-min delayed phase (p = 0.03). 3D HR LGE enhancement correlated inversely with portal vein flow (rs = - 0.42, p = 0.01) and positively with left lobe stiffness (rs = 0.51, p < 0.01). The enhancement score decreased in 13/35 (37%) between the 5-7- and 15-20-min delayed phases. CONCLUSIONS: Liver fibrosis can be assessed on 3D HR LGE sequences in patients with Fontan circulation, correlates with other imaging biomarkers of Fontan liver disease, and may add information for hepatic surveillance in this population. KEY POINTS: • Abnormal liver enhancement on 3D HR LGE sequences in Fontan patients likely represents liver fibrosis and is seen in up to 66% of children and adolescents with variable distribution and severity. • The degree of 3D HR LGE liver enhancement correlates with decreased portal vein flow and increased left hepatic lobe stiffness.

Myocardial late gadolinium enhancement using delayed 3D IR-FLASH in the pediatric population: feasibility and diagnostic performance compared to single-shot PSIR-bSSFP.

BACKGROUND: This study compares three-dimensional (3D) high-resolution (HR) late gadolinium enhancement (LGE; 3D HR-LGE) imaging using a respiratory navigated, electrocardiographically-gated inversion recovery gradient echo sequence with conventional LGE imaging using a single-shot phase-sensitive inversion recovery (PSIR) balanced steady-state free precession (bSSFP; PSIR-bSSFP) sequence for routine clinical use in the pediatric population. METHODS: Pediatric patients (0-18 years) who underwent clinical cardiovascular magnetic resonance (CMR) with both 3D HR-LGE and single-shot PSIR-bSSFP LGE between January 2018 and June 2020 were included. Image quality (0-4) and detection of LGE in the left ventricle (LV) (per 17 segments), in the right ventricle (RV) (per 3 segments), as endocardial fibroelastosis (EFE), at the hinge points, and at the papillary muscles was analyzed by two blinded readers for each sequence. Ratios of the mean signal intensity of LGE to normal myocardium (LGE:Myo) and to LV blood pool (LGE:Blood) were recorded. Data is presented as median (1st-3rd quartiles). Wilcoxon signed rank test and chi-square analyses were used as appropriate. Inter-rater agreement was analyzed using weighted κ-statistics. RESULTS: 102 patients were included with median age at CMR of 8 (1-13) years-old and 44% of exams performed under general anesthesia. LGE was detected in 55% of cases. 3D HR LGE compared to single-shot PSIR-bSSFP had longer scan time [4:30 (3:35-5:34) vs 1:11 (0:47-1:32) minutes, p < 0.001], higher image quality ratings [3 (3-4) vs 2 (2-3), p < 0.001], higher LGE:Myo [23.7 (16.9-31.2) vs 5.0 (2.9-9.0), p < 0.001], detected more segments of LGE in both the LV [4 (2-8) vs 3 (1-7), p = 0.045] and RV [1 (1-1) vs 1 (0-1), p < 0.001], and also detected more cases of LGE with 13/56 (23%) of patients with LGE only detectable by 3D HR LGE (p < 0.001). 3D HR LGE specifically detected a greater proportion of RV LGE (27/27 vs 17/27, p < 0.001), EFE (11/11 vs 5/11, p = 0.004), and papillary muscle LGE (14/15 vs 4/15, p < 0.001). Inter-rater agreement for the recorded variables ranged from 0.42 to 1.00. CONCLUSIONS: 3D HR LGE achieves greater image quality and detects more LGE than conventional single-shot PSIR-bSSFP LGE imaging, and should be considered an alternative to conventional LGE sequences for routine clinical use in the pediatric population.

Training on Congenital 3D Cardiac Models - Will Models Improve Surgical Performance?

Technical skill development in congenital heart surgery (CHS) is challenging due to numerous factors which potentially limit the hands-on operative exposure in surgical training. These challenges have stimulated the growth of simulation-based training through the development of 3D-printed models, providing hands-on surgical training (HOST). From its inception in 2015, the models used in the HOST program have constantly improved, and now include valvar/subvalvar apparatus and better materials that mimic real tissue. Evidence shows that deliberate, regular simulation practice can improve a surgeon's technical skills across the spectrum of CHS. Furthermore, surgical trainees who undergo simulation training are able to translate this improved performance into the operative environment with improved patient outcomes. Despite evidence to support the incorporation of simulation methods into congenital training, its widespread adoption into training curricula remains low. This is due to numerous factors including funding, lack of dedicated time or proctorship and access to models-all of which can be overcome with the newer generation of models and committed trainers. Training programs should consider incorporating simulation-methods as a routine component of congenital training programs.

Expert Consensus Statement: Anatomy, Imaging, and Nomenclature of Congenital Aortic Root Malformations.

Over the past 2 decades, several categorizations have been proposed for the abnormalities of the aortic root. These schemes have mostly been devoid of input from specialists of congenital cardiac disease. The aim of this review is to provide a classification, from the perspective of these specialists, based on an understanding of normal and abnormal morphogenesis and anatomy, with emphasis placed on the features of clinical and surgical relevance. We contend that the description of the congenitally malformed aortic root is simplified when approached in a fashion that recognizes the normal root to be made up of 3 leaflets, supported by their own sinuses, with the sinuses themselves separated by the interleaflet triangles. The malformed root, usually found in the setting of 3 sinuses, can also be found with 2 sinuses, and very rarely with 4 sinuses. This permits description of trisinuate, bisinuate, and quadrisinuate variants, respectively. This feature then provides the basis for classification of the anatomical and functional number of leaflets present. By offering standardized terms and definitions, we submit that our classification will be suitable for those working in all cardiac specialties, whether pediatric or adult. It is of equal value in the settings of acquired or congenital cardiac disease. Our recommendations will serve to amend and/or add to the existing International Paediatric and Congenital Cardiac Code, along with the Eleventh iteration of the International Classification of Diseases provided by the World Health Organization.

Hemodynamic effects of pulmonary regurgitation in one and one-half ventricle repair.

The pulmonary circulation after one and one-half ventricle repair is complex because of the direct connection of two sources of blood flow. Associated pulmonary regurgitation further complicates the pulmonary circulation. We report the complex hemodynamics depicted by phase-contrast magnetic resonance imaging in a patient with one and one-half ventricle circuit and severe pulmonary regurgitation. Antegrade superior vena caval flow occurred almost exclusively during diastole and regurgitated into the right ventricle. Consequently, the entire systemic venous return reached the right ventricle during diastole and is pumped back into the pulmonary arteries in systole. The case highlights the importance of analyzing flow patterns phase-by phase throughout the cardiac cycle instead of relying on the net flow volumes through each source of pulmonary blood flow.

Semiquantitative characterization of dynamic magnetic resonance perfusion of the liver in pediatric Fontan patients.

BACKGROUND: Dynamic contrast-enhanced magnetic resonance imaging (MRI) of the liver in pediatric Fontan patients often shows peripheral reticular areas of hypoenhancement, which has not been studied in detail. OBJECTIVE: To semiquantitatively score the hepatic MR perfusion abnormality seen in pediatric Fontan patients, and to correlate the perfusion abnormality with functional clinical and hemodynamic parameters. MATERIALS AND METHODS: All children (< 18 years old) after Fontan palliation with combined clinical cardiac and liver MRI performed between May 2017 and April 2019 were considered for inclusion. A semiquantitative perfusion score was used to assess the severity of the hepatic reticular pattern seen on dynamic contrast-enhanced liver imaging. The liver was divided into four sections: right posterior, right anterior, left medial and left lateral. Each liver section was assigned a score from 0 to 4 depending on the amount of abnormal reticular hypoenhancement. Scoring was assigned for each section of the liver across eight successive dynamic contrast-enhanced modified spoiled gradient echo runs. Scores were correlated with clinical and hemodynamic parameters. RESULTS: All Fontan children showed hepatic reticular hypoenhancement by MRI, most severe in the early portal venous phase with a median maximum total perfusion abnormality score of 12 (range: 9-14). All perfusion abnormalities progressively resolved during the hepatic venous phase. Perfusion abnormality scores were greatest in the right compared to left hepatic lobes (7 range: [6-8] vs. 5 [range: 3-6], P < 0.01). The maximum left hepatic lobe perfusion abnormality scores were greatest in children with versus without imaging signs of portal hypertension (8 [range: 7-8] vs. 4 [range: 3-5], P < 0.01). High unconjugated bilirubin and low platelets correlated with greater perfusion abnormality (R = 0.450, P = 0.024, and R = - 0.458, P < 0.01, respectively). Age at MRI, time from Fontan, focal liver lesions and cardiac MRI hemodynamic parameters did not show significant correlations with the severity of the liver perfusion abnormality. CONCLUSION: All Fontan children have hepatic reticular hypoenhancement abnormalities seen with MRI that are most severe in the right hepatic lobe and universally show gradual resolution through the hepatic venous phase. Perfusion abnormality in the left hepatic lobe is worse in children with portal hypertension.

Congenital Heart Surgery Skill Training Using Simulation Models: Not an Option but a Necessity.

Congenital heart surgery (CHS) is technically demanding, and its training is extremely complex and challenging. Training of the surgeon's technical skills has relied on a preceptorship format in which the trainees are gradually exposed to patients in the operating room under the close tutelage of senior staff surgeons. Training in the operating room is an inefficient process and the concept of a learning curve is no longer acceptable in terms of patient outcomes. The benefits of surgical simulation in training of congenital heart surgeons are well known and appreciated. However, adequate surgical simulation models and equipment for training have been scarce until the recent development of three-dimensionally (3D) printed models. Using comprehensive 3D printing and silicone-molding techniques, realistic simulation training models for most congenital heart surgical procedures have been produced. Newly developed silicone-molded models allow efficient CHS training in a stress-free environment with instantaneous feedback from the proctors and avoids risk to patients. The time has arrived when all congenital heart surgeons should consider surgical simulation training before progressing to real-life operating in a similar fashion to the aviation industry where all pilots are required to complete simulation training before flying a real aircraft. It is argued here that simulation training is not an option anymore but should be a mandatory component of CHS training.

Adverse fibrosis remodeling and aortopulmonary collateral flow are associated with poor Fontan outcomes.

BACKGROUND: The extent and significance in of cardiac remodeling in Fontan patients are unclear and were the subject of this study. METHODS: This retrospective cohort study compared cardiovascular magnetic resonance (CMR) imaging markers of cardiac function, myocardial fibrosis, and hemodynamics in young Fontan patients to controls. RESULTS: Fifty-five Fontan patients and 44 healthy controls were included (median age 14 years (range 7-17 years) vs 13 years (range 4-14 years), p = 0.057). Fontan patients had a higher indexed end-diastolic ventricular volume (EDVI 129 ml/m2 vs 93 ml/m2, p < 0.001), and lower ejection fraction (EF 45% vs 58%, p < 0.001), circumferential (CS - 23.5% vs - 30.8%, p < 0.001), radial (6.4% vs 8.2%, p < 0.001), and longitudinal strain (- 13.3% vs - 24.8%, p < 0.001). Compared to healthy controls, Fontan patients had higher extracellular volume fraction (ECV) (26.3% vs 20.6%, p < 0.001) and native T1 (1041 ms vs 986 ms, p < 0.001). Patients with a dominant right ventricle demonstrated larger ventricles (EDVI 146 ml/m2 vs 120 ml/m2, p = 0.03), lower EF (41% vs 47%, p = 0.008), worse CS (- 20.1% vs - 25.6%, p = 0.003), and a trend towards higher ECV (28.3% versus 24.1%, p = 0.09). Worse EF and CS correlated with longer cumulative bypass (R = - 0.36, p = 0.003 and R = 0.46, p < 0.001), cross-clamp (R = - 0.41, p = 0.001 and R = 0.40, p = 0.003) and circulatory arrest times (R = - 0.42, p < 0.001 and R = 0.27, p = 0.03). T1 correlated with aortopulmonary collateral (APC) flow (R = 0.36, p = 0.009) which, in the linear regression model, was independent of ventricular morphology (p = 0.9) and EDVI (p = 0.2). The composite outcome (cardiac readmission, cardiac reintervention, Fontan failure or any clinically significant arrhythmia) was associated with increased native T1 (1063 ms vs 1026 ms, p = 0.029) and EDVI (146 ml/m2 vs 118 ml/m2, p = 0.013), as well as decreased EF (42% vs 46%, p = 0.045) and worse CS (- 22% vs - 25%, p = 0.029). APC flow (HR 5.5 CI 1.9-16.2, p = 0.002) was independently associated with the composite outcome, independent of ventricular morphology (HR 0.71 CI 0.30-1.69 p = 0.44) and T1 (HR1.006 CI 1.0-1.13, p = 0.07). CONCLUSIONS: Pediatric Fontan patients have ventricular dysfunction, altered myocardial mechanics and increased fibrotic remodeling. Cumulative exposure to cardiopulmonary bypass and increased aortopulmonary collateral flow are associated with myocardial dysfunction and fibrosis. Cardiac dysfunction, fibrosis, and collateral flow are associated with adverse outcomes.

Usefulness of TI-scout images in the assessment of late gadolinium enhancement in children.

BACKGROUND: Cardiovascular magnetic resonance (CMR) late gadolinium enhancement (LGE) requires identification of the normal myocardial nulling time using inversion time (TI)-scout imaging sequence. Although TI-scout images are not primarily used for myocardial assessment, they provide information regarding different signal recovery patterns of normal and abnormal myocardium facilitating identification of LGE in instances where standard LGE images alone are not diagnostic. We aimed to assess the diagnostic performance of TI-scout as compared to that of standard LGE images. METHODS: CMR studies with LGE imaging in 519 patients (345 males, 1-17 years) were reviewed to assess the diagnostic performance of LGE imaging in terms of the location of LGE and the pathologic entities. The diagnostic performance of the TI-scout and standard LGE imaging was classified into four categories: (1) equally diagnostic, (2) TI-scout superior to standard LGE, (3) standard LGE superior to TI-scout, and (4) complementary, by the consensus of the two observers. RESULTS: The study cohort consisted of 440 patients with negative LGE and 79 with evidence for LGE. For a negative diagnosis of LGE, TI-scout and standard LGE images were equally diagnostic in 75% of the cases and were complementary in 12%. For patients with LGE, TI-scout images were superior to standard LGE images in 52% of the cases and were complementary in 19%. The diagnostic performance of TI-scout images was superior to that of standard LGE images in all locations. TI-scout images were superior to standard LGE images in 11 of 12 (92%) cases with LGE involving the papillary muscles, in 7 /12 (58%) cases with subendocardial LGE, and in 4/7 (57%) cases with transmural LGE. TI-scout images were particularly useful assessing the presence and extent of LGE in hypertrophic cardiomyopathy (HCM). TI-scout was superior to standard LGE in 6/10 (60%) and was complementary in 3/10 (30%) of the positive cases with HCM. CONCLUSIONS: TI-scout images enhance the diagnostic performance of LGE imaging in children.

Abdominal Imaging of Children and Young Adults With Fontan Circulation: Pathophysiology and Surveillance.

OBJECTIVE. The Fontan procedure has significantly improved the survival in children with a functional single ventricle, but it is associated with chronically elevated systemic venous pressure that leads to multisystemic complications. Imaging plays an important role in assessing these complications and guiding management. The pathophysiology, imaging modalities, and current surveillance recommendations are discussed and illustrated. CONCLUSION. Significant improvement in survival of patients with Fontan circulation is associated with ongoing cardiac and extracardiac comorbidities and multisystemic complications. The liver and intestines are particularly vulnerable to damage. In addition, this patient population has been shown to be at increased risk of certain malignancies such as hepatocellular carcinoma and neuroendocrine tumors. Familiarity with imaging findings of Fontan-associated liver disease and other abdominal complications of the Fontan circulation is essential for radiologists because we are likely to encounter these patients in our general practice.

Mixed-reality view of cardiac specimens: a new approach to understanding complex intracardiac congenital lesions.

Digital reality is an emerging platform for three-dimensional representation of medical imaging data. In this technical innovation paper, the authors evaluated the accuracy and utility of mixed-reality technology in the morphological evaluation of complex congenital heart disease. The authors converted CT datasets of 12 heart specimens with different subtypes of double-outlet right ventricle to stereoscopic images and interrogated them using a mixed-reality system. The morphological features identified on the stereoscopic models were compared with findings at macroscopic examination of the actual heart specimens. The results showed that the mixed-reality system provided highly accurate stereoscopic display of spatially complex congenital cardiac lesions, with interactive features that might enhance 3-D understanding of morphology. Additionally, the authors found that high-resolution digital reproduction of cardiac specimens using clinical CT scanners is feasible for preservation and educational purposes.

Increased extracellular volume in the liver of pediatric Fontan patients.

BACKGROUND: Patients with single ventricle physiology are at increased risk for developing liver fibrosis. Its extent and prevalence in children with bidirectional cavopulmonary connection (BCPC) and Fontan circulation are unclear. Extracellular volume fraction (ECV), derived from cardiovascular magnetic resonance (CMR) and T1 relaxometry, reflect fibrotic remodeling and/or congestion in the liver. The aim of this study was to investigate whether pediatric patients with single ventricle physiology experience increased native T1 and ECV as markers of liver fibrosis/congestion. METHODS: Hepatic native T1 times and ECV, using a cardiac short axis modified Look-Locker inversion recovery sequence displaying the liver, were measured retrospectively in children with BCPC- and Fontan circulations and compared to pediatric controls. RESULTS: Hepatic native T1 time were increased in Fontan patients (n = 62, 11.4 ± 4.4 years, T1 762 ± 64 ms) versus BCPC patients (n = 20, 2.8 ± 0.9 years, T1 645 ± 43 ms, p = 0.04). Both cohorts had higher T1 than controls (n = 44, 13.7 ± 2.9 years, T1 604 ± 54 ms, p < 0.001 for both). ECV was 41.4 ± 4.8% in Fontan and 36.4 ± 4.8% in BCPC patients, respectively (p = 0.02). In Fontan patients, T1 values correlated with exposure to cardiopulmonary bypass time (R = 0.3, p = 0.02), systolic and end diastolic volumes (R = 0.3, p = 0.04 for both) and inversely with oxygen saturations and body surface area (R = -0.3, p = 0.04 for both). There were no demonstrable associations of T1 or ECV with central venous pressure or age after Fontan. CONCLUSION: Fontan and BCPC patients have elevated CMR markers suggestive of hepatic fibrosis and/or congestion, even at a young age. The tissue changes do not appear to be related to central venous pressures. TRIAL REGISTRATION: Retrospectively registered data.

Mapping versus source methods for quantifying myocardial T1 in controls and in repaired tetralogy of Fallot: interchangeability and reproducibility in children.

BACKGROUND: Myocardial T1 relaxometry can be performed by contouring on individual T1-weighted source images (source method) or on a single T1 map (mapping method). OBJECTIVE: This study compares (a) agreement between native T1 and extracellular volume results of the two methods and (b) interobserver reproducibility of the two methods in children without heart disease and those with tetralogy of Fallot (TOF). MATERIALS AND METHODS: We retrospectively analyzed pediatric patients (controls and those with repaired TOF) with cardiac magnetic resonance examinations including extracellular volume quantification using the modified Look-Locker inversion recovery (MOLLI) sequence. We compared native T1 and extracellular volume of the entire left ventricle and interventricular septum derived using the source and the mapping approaches. RESULTS: In the control group (n=25, median age 14.0 years, interquartile range [IQR] 11.5-16.5 years), the mapping method produced lower native T1 values than the source method in the interventricular septum (mean difference ± standard deviation [SD] = 12±15 ms, P<0.001). In the TOF group (n=50, median age 13.3 years, IQR 9.9-15.0 years), the mapping method produced lower values for native T1 and extracellular volume in the interventricular septum (mean difference 9±14 ms and 0.6±1.1%, P<0.001). In 6-12% of the children, differences were >3 standard deviations from the mean difference. Interobserver reproducibility between the two methods by intraclass correlation coefficients were clinically equivalent. CONCLUSION: T1 and extracellular volume values generated by the source and mapping methods show systematic differences and can vary significantly in an individual child, and thus cannot be used interchangeably in clinical practice. The source method might allow for easier detection and, in some cases, mitigation of artifacts that are not infrequent in children and can be difficult to appreciate on the T1 map.

Dual phase infusion with bolus tracking: technical innovation for cardiac and respiratory navigated magnetic resonance angiography using extracellular contrast.

This technical innovation paper describes a technique for performing cardiac-gated, respiratory-navigated cardiovascular magnetic resonance angiography using an extracellular gadolinium-based contrast agent at 1.5 Tesla (T) with a dual phase bolus injection and slow infusion technique.

Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association.

For many neuromuscular diseases (NMDs), cardiac disease represents a major cause of morbidity and mortality. The management of cardiac disease in NMDs is made challenging by the broad clinical heterogeneity that exists among many NMDs and by limited knowledge about disease-specific cardiovascular pathogenesis and course-modifying interventions. The overlay of compromise in peripheral muscle function and other organ systems, such as the lungs, also makes the simple application of endorsed adult or pediatric heart failure guidelines to the NMD population problematic. In this statement, we provide background on several NMDs in which there is cardiac involvement, highlighting unique features of NMD-associated myocardial disease that require clinicians to tailor their approach to prevention and treatment of heart failure. Undoubtedly, further investigations are required to best inform future guidelines on NMD-specific cardiovascular health risks, treatments, and outcomes.

Diagnosis and Management of Noncardiac Complications in Adults With Congenital Heart Disease: A Scientific Statement From the American Heart Association.

Life expectancy and quality of life for those born with congenital heart disease (CHD) have greatly improved over the past 3 decades. While representing a great advance for these patients, who have been able to move from childhood to successful adult lives in increasing numbers, this development has resulted in an epidemiological shift and a generation of patients who are at risk of developing chronic multisystem disease in adulthood. Noncardiac complications significantly contribute to the morbidity and mortality of adults with CHD. Reduced survival has been documented in patients with CHD with renal dysfunction, restrictive lung disease, anemia, and cirrhosis. Furthermore, as this population ages, atherosclerotic cardiovascular disease and its risk factors are becoming increasingly prevalent. Disorders of psychosocial and cognitive development are key factors affecting the quality of life of these individuals. It is incumbent on physicians who care for patients with CHD to be mindful of the effects that disease of organs other than the heart may have on the well-being of adults with CHD. Further research is needed to understand how these noncardiac complications may affect the long-term outcome in these patients and what modifiable factors can be targeted for preventive intervention.

How many versus how much: comprehensive haemodynamic evaluation of partial anomalous pulmonary venous connection by cardiac MRI.

OBJECTIVES: The objective of this study was to investigate the effect of location and number of anomalously connected pulmonary veins and any associated atrial septal defect (ASD) on the magnitude of left-to-right shunting in patients with partial anomalous pulmonary venous connection (PAPVC), and how that influences right ventricular volume loading. METHODS AND RESULTS: The cardiac magnetic resonance (CMR) and echocardiography examinations of 26 paediatric patients (mean age, 11.2 ± 5.1 years) with unrepaired PAPVC were analysed. Fourteen patients had right-sided, 11 left-sided and 1 patient bilateral PAPVC. An ASD was present in 11 patients, of which none had a Qp/Qs < 1.5 and 8 had a Qp/Qs≥ 2.0. No patient with isolated left upper PAPVC experienced a Qp/Qs ≥ 2.0 compared to 9/12 patients with right upper PAPVC. Qp/Qs correlated with indexed right ventricle (RV) end-diastolic volume (RVEDVi, r = 0.59, p = 0.002) by CMR and with echocardiographic right ventricular end-diastolic dimension (RVED) z-score (r = 0.68, p = 0.003). A RVEDVi >124 ml/m2 by CMR and a RVED z-score >2.2 by echocardiography identified patients with a Qp/Qs ≥1.5 with good sensitivity and specificity. CONCLUSIONS: An asymptomatic patient with a single anomalously connected left upper pulmonary vein and without an ASD is unlikely to have a significant left-to-right shunt. On the other hand, right-sided PAPVC is frequently associated with a significant left-to-right shunt, especially when an ASD is present. KEY POINTS: • Patients with PAPVC and ASD routinely have a significant left-to-right shunt. • Patients with right PAPVC are likely to have a significant left-to-right shunt. • Patients with left PAPVC are unlikely to have a significant left-to-right shunt. • CMR is helpful in decision-making for patients with PAPVC.