RESUMEN
Anomalous aortic origin of a coronary artery (AAOCA) is associated with sudden death in the young. Risk stratification and management decision-making remain challenging. Data addressing post-diagnosis perceptions of exercise behavior and safety are lacking. We aimed to determine how AAOCA affects exercise behaviors, safety perceptions, and emotional well-being of patients/parents. Qualitative and quantitative analysis of AAOCA patient-/parent-specific survey was conducted to examine exercise frequency/restrictions, perceived safety of competitive/recreational exercise, and psychosocial well-being. Subgroups stratified by AAOCA subtype, surgical intervention, and physician-driven restrictions were compared using chi-squared and Fisher's exact tests. Cohen's kappa determined agreement in parent/child responses. AAOCA subtypes included 13 (24%) left AAOCA, 36 (67%) right AAOCA, and 5 (9%) other/unknown. Of 54 parents and 41 paired child responses, 22% of patients were physician-restricted from exercise. Parents imposed restrictions on competitive/recreational exercise 34%/26% of the time, respectively. Children without physician restrictions still self-restricted exercise 35% of the time. Parents reported feeling their child was unsafe exercising 61% competitively and 33% recreationally. Twenty-two percent of children reported feeling unsafe exercising, with good agreement to parental perceptions of competitive exercise safety (kappa = 0.779, p < 0.001). One-third of parents and children reported feeling sad, angry, or lonely, and about half reported feeling different. Importantly, 47% of children desired to exercise more. No difference was seen across restriction status, AAOCA subtype, or surgical management strategy. CONCLUSION: There are different perceptions of exercise behavior and safety following AAOCA evaluation, regardless of risk category or management strategy, impacting their well-being. These unmet needs should be at the forefront of care. WHAT IS KNOWN: ⢠AAOCA is one of the leading causes of sudden cardiac death in the young. ⢠Exercise restriction varies according to AAOCA subtype and its perceived risk of inducing myocardial ischemia. WHAT IS NEW: ⢠There are different perceptions of exercise behavior and safety in patients and parents following a diagnosis of AAOCA, impacting their well-being. ⢠Risk category or management strategy has no effect in patients' and parents' perception of exercise safety. ⢠These unmet needs in this population should be at the forefront of care.
RESUMEN
Background: Left ventricular (LV) wall motion assessment is an important adjunct in addition to perfusion defects in assessing ischemic changes. This study aims to investigate the feasibility and utility of performing feature tracking (FT) in pediatric patients with coronary anomalies undergoing dobutamine stress CMR to assess wall motion abnormalities (WMA) and perfusion defects. Method: This is a retrospective study where 10 patients with an inducible first-pass perfusion (FPP) defect and 10 without were selected. Global LV circumferential strain/strain rate (GCS/GCSR) was measured at rest and at peak stress (systole and diastole) using a commercially available feature tracking software. Peak GCS and GCSR were compared to indexed wall motion score (WMSI) between groups with and without FPP defect and in subjects with and without WMA. Results: The median age of patients was 13.5 years (Q1, 11 years; Q3, 15 years). Five subjects had qualitatively WMA at peak stress. A moderate correlation of GCS with WMSI at peak stress (0.48, p = 0.026) and a significant difference between GCS at rest and stress in patients with no inducible WMA (p = 0.007) were seen. No significant difference was noted in GCS between rest and stress in patients with WMA (p = 0.13). There was a larger absolute GCS/GCSR at peak stress in subjects with no inducible FPP defect or WMA. Conclusion: Smaller absolute GCS and a lack of significant change in GCS at peak stress in those with inducible WMA or perfusion defect are suggestive of compromised LV deformation in subjects with inducible WMA. Given these findings, GCS derived from CMR-FT may be used to objectively assess WMA in pediatric patients undergoing stress CMR.
RESUMEN
AIMS: Data on mitral annular disjunction (MAD) in children with Marfan syndrome (MFS) are sparse. To investigate the diagnostic yield of MAD by echocardiography and cardiac magnetic resonance imaging (CMR), its prevalence and progression during childhood. METHODS AND RESULTS: We included patients <21 years old with MFS, defined by 2010 Ghent criteria and a pathogenic FBN1 variant or ectopia lentis. Two readers measured systolic separation between the mitral valve (MV) posterior hinge point and left ventricular (LV) myocardium on initial and subsequent imaging. MAD was defined as MV-LV separation ≥2â mm, MV prolapse (MVP) as atrial displacement ≥2â mm. Kappa coefficients evaluated echocardiogram-CMR agreement. Bland-Altman and intraclass correlation coefficients (ICCs) assessed inter-rater and inter-modality reliability. Univariable mixed-effects linear regression was used to evaluate longitudinal changes of MAD. MAD was detected in 60% (110/185) eligible patients. MVP was present in 48% (53/110) of MAD and MAD in 90% (53/59) of MVP. MAD detection by CMR and echocardiography had 96% overall agreement (Kappa = 0.89, P < 0.001) and a 0.32â mm estimate bias (95% CI 0.00, 0.65). ICC by echocardiography, CMR, and between modalities were 0.97 (95% CI 0.93, 0.98), 0.92 (95% CI 0.79, 0.97), and 0.91 (95% CI 0.85, 0.94), respectively. MAD was associated with aortic root dilation (P < 0.001). MAD was found in children of all ages, increased +0.18â mm/year (95% CI +0.14, +0.22) during a median duration of 5.5 years (IQR 3.1, 7.5 years). MAD indexed by height yielded a constant value +0.0002â mm/m/year (95% CI -0.0002, +0.0005â mm/m/year). CONCLUSION: MAD was common in pediatric MFS and was associated with aortic root dilation. MAD detection by echocardiography and CMR was highly reliable, suggesting that routine assessment in MFS is feasible. MAD was present in neonates and progressed over time but remained constant when indexing by height. Further studies are needed to evaluate MAD as a biomarker for clinical outcomes in pediatric MFS.
Asunto(s)
Progresión de la Enfermedad , Ecocardiografía , Síndrome de Marfan , Humanos , Síndrome de Marfan/diagnóstico por imagen , Síndrome de Marfan/complicaciones , Masculino , Femenino , Niño , Adolescente , Ecocardiografía/métodos , Preescolar , Imagen por Resonancia Cinemagnética/métodos , Válvula Mitral/diagnóstico por imagen , Estudios Retrospectivos , Estudios de Cohortes , Insuficiencia de la Válvula Mitral/diagnóstico por imagen , Prolapso de la Válvula Mitral/diagnóstico por imagenRESUMEN
BACKGROUND: We describe outcomes and management strategies for single-ventricle and bilaterally discontinuous pulmonary arteries (PAs) originating from bilateral ductus arteriosus. METHODS: We reviewed 22 patients with aforementioned anatomy and PA centralization from 1995 to 2023, excluding those with biventricular repair. RESULTS: Median age at centralization was 9 days (minimum-maximum, 0 days-2 years). Centralization was performed with systemic-to-pulmonary shunt (n =20 [91%]; 2 after bilateral ductal stents) or bidirectional cavopulmonary connection (n = 2 [9%]) using pericardial roll (n = 14 [64%]), patch-augmented direct anastomosis (n = 7 [32%]), and interposition graft (n = 1 [5%]) techniques. Concurrent total anomalous pulmonary venous connection (TAPVC, n = 11 [50%]) was associated with significantly inferior survival (P = .01). Five patients (23%) died at a median of 59 days (minimum-maximum, 6-257 days) after centralization, all with noncardiac TAPVC. At the latest follow-up for 17 survivors (median, 13.5 years; minimum-maximum, 0.5-25.1 years after centralization), 12 completed Fontan, 4 completed second-stage palliation, and 1 received a transplant before second-stage palliation. PA reintervention was required in 14 patients (64%), including 3 with reoperations independent of staged palliation. Echocardiography from baseline to before the second stage demonstrated branch PA growth with significantly increased diameters (left, P = .0006; right, P = .0002); z-scores significantly increased for right (P = .004) but not left (P = .11). CONCLUSIONS: Successful single-ventricle palliation is possible, although high risk, for patients with bilateral discontinuous ductal PAs. Early postcentralization mortality remains substantial, particularly with associated noncardiac TAPVC. Many require reintervention to maintain PA growth, typically concurrently with staged palliation.
Asunto(s)
Ventrículos Cardíacos , Arteria Pulmonar , Humanos , Lactante , Arteria Pulmonar/cirugía , Arteria Pulmonar/anomalías , Recién Nacido , Femenino , Masculino , Estudios Retrospectivos , Preescolar , Ventrículos Cardíacos/anomalías , Ventrículos Cardíacos/cirugía , Resultado del Tratamiento , Corazón Univentricular/cirugía , Conducto Arterial/cirugía , Conducto Arterial/diagnóstico por imagen , Cardiopatías Congénitas/cirugía , Anomalías Múltiples/cirugíaRESUMEN
OBJECTIVE: Marfan syndrome (MFS)-associated cardiomyopathy, defined as ventricular dilation and dysfunction unexplained by volume loading, is not well defined in children. This study evaluated ventricular size and function in paediatric MFS using cardiac MRI (cMRI). METHODS: This retrospective cohort study examined patients with MFS <19 years old at first cMRI. Left ventricular (LV) ejection fraction (EF) <55% was considered abnormal, as were z-scores >2. Combined mitral and aortic regurgitation indexed to LV stroke volume <20% defined absent/mild volume load. Biventricular volumes and EF on serial cMRI studies were compared with normative paediatric cMRI values, with measures converted to z-scores as appropriate. Longitudinal changes in volumes and EF were evaluated by mixed linear regression. Associations between ventricular, aortic and mitral characteristics were evaluated. RESULTS: 58 patients (60% male) were evaluated. Median age at initial cMRI was 13.6 years (IQR 10.0-15.8 years). Among patients with absent/mild LV volume load at initial cMRI (n=44, 76%), indexed LV end-diastolic volume (EDV) was significantly increased above normative values (median z-score 1.8, IQR 0.6-3.5, p<0.0001) and LVEF was abnormal in 48% (21/44). In the absence of volume loading, mitral valve prolapse (MVP) was associated with larger ventricular volumes and lower LVEF. Among those with serial cMRIs, LVEF and EDV z-scores did not significantly change over a mean follow-up time between cMRI studies of 1.5 years. CONCLUSION: Ventricular dilation and reduced EF are common in children with MFS and occur with no/mild LV volume load, suggesting intrinsic cardiomyopathy. MVP may be associated with cardiomyopathy.
Asunto(s)
Síndrome de Marfan , Volumen Sistólico , Función Ventricular Izquierda , Humanos , Síndrome de Marfan/complicaciones , Síndrome de Marfan/fisiopatología , Síndrome de Marfan/diagnóstico , Masculino , Femenino , Estudios Retrospectivos , Niño , Adolescente , Volumen Sistólico/fisiología , Función Ventricular Izquierda/fisiología , Imagen por Resonancia Cinemagnética/métodos , Ventrículos Cardíacos/diagnóstico por imagen , Ventrículos Cardíacos/fisiopatología , Cardiomiopatías/etiología , Cardiomiopatías/fisiopatología , Cardiomiopatías/diagnóstico por imagen , Disfunción Ventricular Izquierda/etiología , Disfunción Ventricular Izquierda/fisiopatología , Disfunción Ventricular Izquierda/diagnóstico por imagenAsunto(s)
Ecocardiografía Tridimensional , Ecocardiografía Transesofágica , Estudios de Factibilidad , Humanos , Ecocardiografía Transesofágica/métodos , Ecocardiografía Tridimensional/métodos , Niño , Masculino , Femenino , Preescolar , Adolescente , Lactante , Cardiopatías Congénitas/diagnóstico por imagenRESUMEN
OBJECTIVES: A subset of hypoplastic-left-heart-syndrome (HLHS) fetuses have a complex cor-triatriatum sinister that we named "labyrinthine-cor (L-cor)". We sought to determine the prevalence of L-cor in HLHS fetuses and hypothesized that it is associated with increased mortality. METHODS: This single-center retrospective cohort study included all HLHS fetuses from January 2010-December 2020. Fetuses with other hypoplastic-left-heart variants, inadequate images, lack of follow-up and fetal atrial-septal interventions were excluded. RAS was defined as the ratio of pulmonary-vein forward-to-reverse velocity-time-integral (VTI) ≤ 5 and severe-RAS defined as VTI-ratio <3. Kaplan-Meier survival-analysis was performed for the primary outcome of transplant-free survival for 62 weeks after gestational-age of 30 weeks (â¼1 year). RESULTS: Of the 156 consecutive fetuses with HLHS, 11 (7.7%) had L-cor and 8/11 (72.7%) of these had RAS. When compared to HLHS-RAS without L-cor, fetuses with HLHS-RAS and L-cor were less likely to survive to 28 days (87% vs. 62.5%, p = 0.017) and to 1 year (69.6% vs. 25%, p = 0.029). When comparing by survival analysis, fetuses with severe-RAS with L-cor had lower survival compared severe-RAS without L-cor (p = 0.020). CONCLUSION: L-cor in fetal HLHS is associated with increased mortality. Recognition of this finding is important for prognostication and atrial-septal-intervention planning.
Asunto(s)
Corazón Triatrial , Síndrome del Corazón Izquierdo Hipoplásico , Humanos , Femenino , Estudios Retrospectivos , Embarazo , Síndrome del Corazón Izquierdo Hipoplásico/mortalidad , Síndrome del Corazón Izquierdo Hipoplásico/diagnóstico , Corazón Triatrial/complicaciones , Corazón Triatrial/diagnóstico , Corazón Triatrial/diagnóstico por imagen , Adulto , Ultrasonografía Prenatal , Estudios de CohortesRESUMEN
Background: Coarctation of the aorta can be associated with significant hypoplasia of the aortic arch. In contrast to patch aortoplasty, ascending sliding arch aortoplasty uses viable autologous tissue for potential growth in children. We reviewed the mid- to long-term outcomes of this technique. Methods: Between 2002 and 2023, 28 patients underwent ascending sliding arch aortoplasty for the patients with coarctation of the aorta (n = 22) and interrupted aortic arch (n = 2). Four patients underwent previous surgical coarctation repair at other institutions. The median patient age and body weight were 28.5 months (3 weeks to 15.6 years) and 13.4 kg (3.7-70 kg), respectively. Results: Although one patient had a recurrent nerve injury postoperatively, there were no other major morbidities or mortalities. The last follow-up echocardiography demonstrated that the mean peak velocity improved from 3.9 ± 0.6 to 0.9 ± 0.8 m/s, and the pressure gradient improved from 63.6 ± 21.5 to 7.1 ± 7.7 mm Hg. The postoperative diameters of the ascending aorta, proximal arch, distal arch, and isthmus all increased significantly. The mean postoperative length of stay was 5.9 ± 2.1 days, and the median follow-up time was 7.3 years (10 days to 20.5 years). No reoperation or catheterization-based intervention was performed for residual coarctation. Conclusions: Ascending sliding arch aortoplasty is safe and effective for treating coarctation of the aorta with aortic arch hypoplasia. This technique is applicable for children ranging in size from neonates to older children (or adolescents), recurrent coarctation cases, and provides complete relief of narrowing by utilizing viable native aortic tissue.
Asunto(s)
Aorta Torácica , Coartación Aórtica , Humanos , Coartación Aórtica/cirugía , Aorta Torácica/cirugía , Lactante , Preescolar , Femenino , Masculino , Niño , Adolescente , Estudios Retrospectivos , Resultado del Tratamiento , Recién Nacido , Estudios de Seguimiento , Procedimientos Quirúrgicos Vasculares/métodos , Factores de Tiempo , EcocardiografíaRESUMEN
Ductal stenting has transformed the care of neonates with ductal-dependent critical CHD, especially in low-income countries. In small infants, a 3.5- or 4-mm stent may lead to too much pulmonary blood flow resulting in pulmonary oedema. We herein presented a novel technique to restrict ductal stent flow in a premature neonate with pulmonary atresia and intact ventricular septum following radiofrequency perforation of the pulmonary valve.
RESUMEN
OBJECTIVE: To describe clinical, functional, surgical, and outcomes data in pediatric patients with a myocardial bridge (MB) evaluated and managed following a standardized approach. METHODS: Prospective observational study included patients evaluated in the Coronary Artery Anomalies Program. Anatomy was determined by computed tomography angiography, myocardial perfusion by stress perfusion imaging, and coronary hemodynamic assessment by cardiac catheterization. RESULTS: In total, 39 of 42 patients with a complete evaluation for MB were included (December 2012 to June 2022) at a median age of 14.1 years (interquartile range, 12.2-16.4). Sudden cardiac arrest occurred in 3 of 39 (8%), exertional symptoms in 14 (36%), and no/nonspecific symptoms in 7 (18%) patients. Exercise stress test was abnormal in 3 of 34 (9%), stress perfusion imaging in 8 of 34 (24%), and resting instantaneous wave-free ratio ≤0.89 or diastolic dobutamine fractional flow reserve ≤0.80 in 11 of 21 (52%) patients. As a result, 15 of 39 (38%) patients were determined to have hemodynamically significant MB, 1 of 15 patients started beta-blocker, and 14 of 15 were referred for surgery. Myotomy (n = 11) and coronary bypass (n = 1) were performed successfully, resulting in improved symptoms and stress testing results. One patient required pericardiocentesis postoperatively, and all were discharged without other complications. At median follow-up time of 2.9 (1.8-5.8) years, all (except 2 pending surgery) were doing well without exercise restriction. CONCLUSIONS: Pediatric patients with MB can present with myocardial ischemia and sudden cardiac arrest. Provocative stress test and intracoronary hemodynamic tests helped risk-stratify symptomatic patients with MB and concern for ischemia. Surgical repair was safe and effective in mitigating exertional symptoms and stress test results, allowing patients to return to exercise without restriction.
RESUMEN
Congenital coronary anomalies are not an infrequent occurrence and their clinical presentation typically occurs during early years, though may be manifested only in adulthood. In the setting of anomalous aortic origin of a coronary artery, this is particularly concerning as it inflicts sudden loss of healthy young lives. Risk stratification remains a challenge and so does the best management decision-making in these patients, particularly if asymptomatic. Standardized approach to evaluation and management, with careful data collection and collaboration among centers, will likely impact future outcomes in this patient population, thus allowing for exercise participation and healthier lives.
Asunto(s)
Anomalías de los Vasos Coronarios , Humanos , Anomalías de los Vasos Coronarios/epidemiología , Aorta , Ejercicio FísicoRESUMEN
OBJECTIVE: This prospective study of pregnant patients, Surveillance To Prevent AV Block Likely to Occur Quickly (STOP BLOQ), addresses the impact of anti-SSA/Ro titers and utility of ambulatory monitoring in the detection of fetal second-degree atrioventricular block (AVB). METHODS: Women with anti-SSA/Ro autoantibodies by commercial testing were stratified into high and low anti-52-kD and/or 60-kD SSA/Ro titers applying at-risk thresholds defined by previous evaluation of AVB pregnancies. The high-titer group performed fetal heart rate and rhythm monitoring (FHRM) thrice daily and weekly/biweekly echocardiography from 17-26 weeks. Abnormal FHRM prompted urgent echocardiography to identify AVB. RESULTS: Anti-52-kD and/or 60-kD SSA/Ro met thresholds for monitoring in 261 of 413 participants (63%); for those, AVB frequency was 3.8%. No cases occurred with low titers. The incidence of AVB increased with higher levels, reaching 7.7% for those in the top quartile for anti-60-kD SSA/Ro, which increased to 27.3% in those with a previous child who had AVB. Based on levels from 15 participants with paired samples from both an AVB and a non-AVB pregnancy, healthy pregnancies were not explained by decreased titers. FHRM was considered abnormal in 45 of 30,920 recordings, 10 confirmed AVB by urgent echocardiogram, 7 being second-degree AVB, all <12 hours from normal FHRM and within another 0.75 to 4 hours to echocardiogram. The one participant with second/third-degree and two participants with third-degree AVB were diagnosed by urgent echocardiogram >17 to 72 hours from an FHRM. Surveillance echocardiograms detected no AVB when the preceding interval FHRM recordings were normal. CONCLUSION: High-titer antibodies are associated with an increased incidence of AVB. Anti-SSA/Ro titers remain stable over time and do not explain the discordant recurrence rates, suggesting that other factors are required. Fetal heart rate and rhythm (FHRM) with results confirmed by a pediatric cardiologist reliably detects conduction abnormalities, which may reduce the need for serial echocardiograms.
Asunto(s)
Bloqueo Atrioventricular , Complicaciones del Embarazo , Niño , Embarazo , Humanos , Femenino , Bloqueo Atrioventricular/diagnóstico , Bloqueo Atrioventricular/epidemiología , Autoanticuerpos , Estudios Prospectivos , Anticuerpos Antinucleares , Ecocardiografía/métodosRESUMEN
Animal assisted therapy (AAT) has been explored as a treatment option for children with mental health disorders and associated symptoms. AAT can be implemented in inpatient, outpatient, and residential care settings. Some studies demonstrate significant improvement in symptom severity while others report only modest results. In this review, we summarize previous studies that have investigated the applications of AAT for pediatric mental health treatment, focusing on management of symptoms related to post-traumatic stress disorder, depression, anxiety, attention-deficit/hyperactivity disorder, and internet gaming disorder. Current studies on AAT and mental health care tend to lack generalizability due to being single-site studies, and comparisons between studies are difficult because studies tend to adopt different definitions of AAT. Future studies examining the effects of AAT on mental health in general and on symptoms for specific conditions are needed before AAT is widely recommended for the pediatric population.
Asunto(s)
Terapia Asistida por Animales , Trastorno por Déficit de Atención con Hiperactividad , Animales , Humanos , Niño , Salud Mental , Trastornos de Ansiedad/terapia , Ansiedad/terapiaRESUMEN
Objective: Patients with complex single-ventricle anatomy with transposed great arteries and systemic outflow obstruction (SV-TGA-SOO) undergo varied initial palliation with ultimate goal of Fontan circulation. We examine a longitudinal experience with multiple techniques, including the largest published cohort following palliative arterial switch operation (pASO), to describe outcomes and decision-making factors. Methods: Neonates with SV-TGA-SOO who underwent initial surgical palliation from 1995 to 2022 at a single institution were retrospectively reviewed. Results: In total, 71 neonates with SV-TGA-SOO underwent index surgical palliation at a median age of 7 days (interquartile range, 6-10) by pASO (n = 23), pulmonary artery band (PAB) with or without arch repair (n = 25), or modified Norwood with Damus-Kaye-Stansel aortopulmonary amalgamation (n = 23). Single-ventricle pathology included double-inlet left ventricle (n = 37, 52%), tricuspid atresia (n = 27, 38%), and others (n = 7, 10%). All mortalities (n = 5, 7%) occurred in the first interstage period after PAB (n = 3) and Norwood (n = 2). Subaortic obstruction in the PAB group was addressed by operative resection (n = 10 total, 7 at index operation) and/or delayed aortopulmonary amalgamation (n = 13, 52%). Two patients with pASO (9%) had early postoperative coronary complications, 1 requiring operative revision. Median follow-up for survivors was 10.4 years (interquartile range, 4.5-16.6 years). Comparing patients by their initial palliation type, notable significant differences included size of bulboventricular foramen, weight at initial operation, operation duration, postoperative length of stay, time to second-stage palliation, multiple pulmonary artery reinterventions, and left pulmonary artery interventions. There were no significant differences in overall survival, Fontan completion, reintervention-free survival in the first interstage period, pulmonary artery reintervention-free survival, long-term systemic valve competency, or ventricular dysfunction. Conclusions: Excellent mid- to long-term outcomes are achievable following neonatal palliation for SV-TGA-SOO via pASO, PAB, and modified Norwood, with comparable survival and Fontan completion. Initial palliation strategy should be individualized to optimize anatomy and physiology for successful Fontan by ensuring an unobstructed subaortic pathway and accessible pulmonary arteries. pASO is a reasonable strategy to consider for these heterogeneous lesions.
RESUMEN
A previously healthy nine-year-old boy with anomalous aortic origin of the left coronary artery (AAOLCA) with high-risk anatomy demonstrated negative stress on magnetic resonance imaging. Invasive cardiac catheterization for intracoronary flow measurement was performed and demonstrated compromised coronary flow during pharmacologic stress and significant stenosis on angiography. The patient underwent surgical intervention with normalization of coronary flow upon postoperative evaluation. Invasive intracoronary flow determination with angiography under provocative stress is emerging as a critical data point for risk stratification and management decision-making in high-risk AAOLCA patients with negative noninvasive perfusion studies.
Asunto(s)
Anomalías de los Vasos Coronarios , Vasos Coronarios , Masculino , Humanos , Niño , Vasos Coronarios/cirugía , Aorta , Imagen por Resonancia Magnética , Angiografía , Angiografía Coronaria , Anomalías de los Vasos Coronarios/cirugíaRESUMEN
Background Arterial tortuosity is associated with adverse events in Marfan and Loeys-Dietz syndromes but remains understudied in Vascular Ehlers-Danlos syndrome. Methods and Results Subjects with a pathogenic COL3A1 variant diagnosed at age <50 years were included from 2 institutions and the GenTAC Registry (National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular Conditions). Height-adjusted vertebral artery tortuosity index (VTI-h) using magnetic resonance or computed tomography angiography was calculated. Associations between VTI-h and outcomes of (1) cardiovascular events (arterial dissection/rupture, aneurysm requiring intervention, stroke), or (2) hollow organ collapse/rupture at age <50 years were evaluated using receiver operator curve analysis (using outcome by age 30 years) and mixed-effects Poisson regression for incidence rate ratios. Of 65 subjects (54% male), median VTI-h was 12 (interquartile range, 8-16). Variants were missense in 46%, splice site in 31%, and null/gene deletion in 14%. Thirty-two subjects (49%) had 59 events, including 28 dissections, 5 arterial ruptures, 4 aneurysms requiring intervention, 4 strokes, 11 hollow organ ruptures, and 7 pneumothoraces. Receiver operator curve analysis suggested optimal discrimination at VTI-h ≥15.5 for cardiovascular events (sensitivity 70%, specificity 76%) and no association with noncardiovascular events (area under the curve, 0.49 [95% CI, 0.22-0.78]). By multivariable analysis, older age was associated with increased cardiovascular event rate while VTI-h ≥15.5 was not (incidence rate ratios, 1.79 [95% CI, 0.76-4.24], P=0.185). However, VTI-h ≥15.5 was associated with events among those with high-risk variants <40 years (incidence rate ratios, 4.14 [95% CI, 1.13-15.10], P=0.032), suggesting effect modification by genotype and age. Conclusions Increased arterial tortuosity is associated with a higher incidence rate of cardiovascular events in Vascular Ehlers-Danlos syndrome. Vertebral tortuosity index may be a useful biomarker for prognosis when evaluated in conjunction with genotype and age.
Asunto(s)
Disección Aórtica , Síndrome de Ehlers-Danlos Tipo IV , Síndrome de Loeys-Dietz , Humanos , Masculino , Persona de Mediana Edad , Adulto , Femenino , ArteriasRESUMEN
We herein presented a 17-year-old female with history of mild mitral valve prolapse who was admitted for methicillin-sensitive Staphylococcus aureus endocarditis and diagnosed with mitral annular disjunction and perforated posterior mitral valve leaflet on two-dimensional and three-dimensional echocardiography (P1-P2). A perforation in the posterior leaflet was confirmed and repaired during surgical intervention. This is a rare presentation of leaflet perforation in the area of mitral annular disjunction.