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Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations.

Genet Med. 2018 10;20(10):1206-1215

Authors: Regalado ES, Mellor-Crummey L, De Backer J, Braverman AC, Ades L, Benedict S, Bradley TJ, Brickner ME, Chatfield KC, Child A, Feist C, Holmes KW, Iannucci G, Lorenz B, Mark P, Morisaki T, Morisaki H, Morris SA, Mitchell AL, Ostergaard JR, Richer J, Sallee D, Shalhub S, Tekin M, Montalcino Aortic Consortium, Estrera A, Musolino P, Yetman A, Pyeritz R, Milewicz DM

PURPOSE: Smooth muscle dysfunction syndrome (SMDS) due to heterozygous ACTA2 arginine 179 alterations is characterized by patent ductus arteriosus, vasculopathy (aneurysm and occlusive lesions), pulmonary arterial hypertension, and other complications in smooth muscle-dependent organs. We sought to define the clinical history of SMDS to develop recommendations for evaluation and management.
METHODS: Medical records of 33 patients with SMDS (median age 12 years) were abstracted and analyzed.
RESULTS: All patients had congenital mydriasis and related pupillary abnormalities at birth and presented in infancy with a patent ductus arteriosus or aortopulmonary window. Patients had cerebrovascular disease characterized by small vessel disease (hyperintense periventricular white matter lesions; 95%), intracranial artery stenosis (77%), ischemic strokes (27%), and seizures (18%). Twelve (36%) patients had thoracic aortic aneurysm repair or dissection at median age of 14 years and aortic disease was fully penetrant by the age of 25 years. Three (9%) patients had axillary artery aneurysms complicated by thromboembolic episodes. Nine patients died between the ages of 0.5 and 32 years due to aortic, pulmonary, or stroke complications, or unknown causes.
CONCLUSION: Based on these data, recommendations are provided for the surveillance and management of SMDS to help prevent early-onset life-threatening complications.

PMID: 29300374 [PubMed - indexed for MEDLINE]

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Expanding Eligibility for the Ross Procedure: A Reasonable Proposition?

Can J Cardiol. 2018 06;34(6):759-765

Authors: Ghoneim A, Bouhout I, Losenno K, Poirier N, Cartier R, Demers P, Tousch M, Guo L, Chu MWA, El-Hamamsy I

BACKGROUND: Although the Ross procedure offers potential benefits in young adults, technical complexity represents a significant limitation. Therefore, the safety of expanding its use in more complex settings is uncertain. The aim of this study was to compare early outcomes of standard isolated Ross procedures vs expanding elgibility to higher-risk clinical settings.
METHODS: From 2011 to 2016, 261 patients (46 ± 12 years) underwent Ross procedures in 2 centres. Patients were divided into 2 groups: standard Ross (n = 166) and expanded eligibility Ross (n = 95). Inclusion criteria for the expanded eligibility group were previous cardiac surgery, acute aortic valve endocarditis, severely impaired left ventricular (LV) function and patients undergoing concomitant procedures. All data were prospectively collected and are 100% complete.
RESULTS: Hospital mortality was 0% in the standard group (0/166) vs 2% in the expanded eligibility group (2/95) (P = 0.13). Sixteen patients (10%) developed acute renal injury in the standard group vs 13 (14%) patients in the expanded eligibility group (P = 0.31). There were no postoperative myocardial infarctions, no neurological events, and no infectious complications. Median intensive care unit (ICU) stay in the standard group was 2 vs 3 days in the expanded eligibility group (P = 0.004), whereas median hospital stay was 6 vs 7 days, respectively (range: 3-19 days) (P < 0.001).
CONCLUSION: Aside from longer ICU and hospital lengths of stay after the Ross procedure in higher-risk clinical scenarios, perioperative mortality and morbidity is similar to standard Ross procedures. Expanding the use of the Ross operation in young adults is a safe alternative in centres of expertise.

PMID: 29716763 [PubMed - indexed for MEDLINE]

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Non-sustained microvolt level T-wave alternans in congenital long QT syndrome types 1 and 2.

J Electrocardiol. 2018 Mar - Apr;51(2):303-308

Authors: Kannampuzha JA, Sengodan P, Avula S, White B, Ganocy SJ, Leo PJ, Kaufman ES

BACKGROUND: Patients with long QT syndrome (LQTS) are predisposed to polymorphic ventricular tachycardia (VT) during adrenergic stimulation. Microvolt T-wave alternans (MTWA) is linked to vulnerability to VT in structural heart disease. The prevalence of non-sustained MTWA (NS-MTWA) in LQTS is unknown.
METHODS: 31 LQT1, 42 LQT2, and 80 controls underwent MTWA testing during exercise. MTWA tests were classified per standardized criteria, and re-analyzed according to the modified criteria to account for NS-MTWA.
RESULTS: LQT1 and LQT2 patients had a significantly higher frequency of late NS-MTWA (26% and 12%) compared to controls (0%). There was no significant difference between the groups with respect to sustained and early NS-MTWA. Late NS-MTWA was significantly associated with QTc.
CONCLUSION: LQT1 and LQT2 patients had a higher prevalence of late NS-MTWA during exercise than matched controls. NS-MTWA likely reflects transient adrenergically mediated dispersion of repolarization, and could be a marker of arrhythmic risk in LQTS.

PMID: 29183619 [PubMed - indexed for MEDLINE]

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Ventricular arrhythmia burden after transcatheter versus surgical pulmonary valve replacement.

Heart. 2018 11;104(21):1791-1796

Authors: Wadia SK, Lluri G, Aboulhosn JA, Shivkumar K, Reemtsen BL, Laks H, Biniwale RM, Levi DS, Salem M, Moore JP

OBJECTIVE: Comparative ventricular arrhythmia (VA) outcomes following transcatheter (TC-PVR) or surgical pulmonary valve replacement (S-PVR) have not been evaluated. We sought to compare differences in VAs among patients with congenital heart disease (CHD) following TC-PVR or S-PVR.
METHODS: Patients with repaired CHD who underwent TC-PVR or S-PVR at the UCLA Medical Center from 2010 to 2016 were analysed retrospectively. Patients who underwent hybrid TC-PVR or had a diagnosis of congenitally corrected transposition of the great arteries were excluded. Patients were screened for a composite of non-intraoperative VA (the primary outcome variable), defined as symptomatic/recurrent non-sustained ventricular tachycardia (VT) requiring therapy, sustained VT or ventricular fibrillation. VA epochs were classified as 0-1 month (short-term), 1-12 months (mid-term) and ≥1 year (late-term).
RESULTS: Three hundred and two patients (TC-PVR, n=172 and S-PVR, n=130) were included. TC-PVR relative to S-PVR was associated with fewer clinically significant VAs in the first 30 days after valve implant (adjusted HR 0.20, p=0.002), but similar mid-term and late-term risks (adjusted HR 0.72, p=0.62 and adjusted HR 0.47, p=0.26, respectively). In propensity-adjusted models, S-PVR, patient age at PVR and native right ventricular outflow tract (RVOT) (vs bioprosthetic/conduit outflow tract) were independent predictors of early VA after pulmonary valve implantation (p<0.05 for all).
CONCLUSION: Compared with S-PVR, TC-PVR was associated with reduced short-term but comparable mid-term and late-term VA burdens. Risk factors for VA after PVR included a surgical approach, valve implantation into a native RVOT and older age at PVR.

PMID: 29636402 [PubMed - indexed for MEDLINE]

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Variation in Anticoagulation Practices in the Congenital Cardiac Catheterization Lab: Results of a Multinational PICES Survey.

Pediatr Cardiol. 2019 Jan;40(1):53-60

Authors: Taggart NW, Gordon BM, Morgan GJ, Goldstein BH

The complex nature of congenital heart disease (CHD) has hindered the establishment of management standards for peri-catheterization anticoagulation. We sought to describe anticoagulation practice variability among providers performing cardiac catheterization in children and adults with CHD. A web-based survey ( ) was distributed to pediatric and congenital interventional cardiologists. Respondents were queried on their training, practice setting, years in practice, and case volume. Clinical questions focused on general anticoagulation strategies and on five common clinical scenarios: two diagnostic (biventricular circulation, single ventricle physiology) and three interventional cardiac catheterizations (atrial septal defect closure, pulmonary artery stenting in Fontan circulation, stent placement for coarctation of aorta). Seventy-seven pediatric and congenital interventional cardiologists responded to the survey (81% in the United States). Twenty-six (36%) worked in a public medical institution; 57% worked in a free-standing children's hospital. Twenty-six percent had been in practice for < 5 years and 32% for > 15 years; 75% completed additional training in interventional congenital cardiology. The median number of cases performed was 200/year (IQR 110); median number of interventional cases was 100/year (IQR 100). Responses to general queries and specific clinical scenarios suggested significant variation in anticoagulation practices, including monitoring of anticoagulation during catheterization, protamine use, and outpatient anticoagulation after catheterization. Practices not only varied between providers but also between different clinical scenarios. Practice patterns did not correlate with provider experience or case volume. Management of anticoagulation in the congenital cardiac catheterization lab varies from operator to operator. Our study may provide some initial insight and context for discussion regarding anticoagulation in a field of increasingly heterogeneous interventional techniques and patient substrates. Future studies would be helpful to better define "best practices" for peri-procedural thromboprophylaxis in patients with congenital heart disease.

PMID: 30121864 [PubMed - indexed for MEDLINE]

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Determinants of Exercise Performance in Children and Adolescents with Repaired Tetralogy of Fallot Using Stress Echocardiography.

Pediatr Cardiol. 2019 Jan;40(1):71-78

Authors: Bhatt SM, Elci OU, Wang Y, Goldmuntz E, McBride M, Paridon S, Mercer-Rosa L

Exercise performance is variable and often impaired in patients with repaired tetralogy of Fallot (rTOF). We sought to identify factors associated with exercise performance by comparing high to low performers on cardiopulmonary exercise testing (CPET) in patients with rTOF. We conducted a cross-sectional study of subjects presenting for CPET who underwent echocardiograms at rest and peak exercise. Patients with pacemakers and arrhythmias were excluded. Right ventricular (RV) global longitudinal strain was used as a measure of systolic function. Pulmonary insufficiency (PI) was assessed with the diastolic systolic ratio and the diastolic systolic time-velocity integral ratio by Doppler interrogation of the pulmonary artery. CPET measures included percent-predicted maximum [Formula: see text][Formula: see text], percent-predicted maximum work and oxygen pulse. High versus low performers were identified as those achieving [Formula: see text] of at least 80% or falling below, respectively. Differences in echocardiographic parameters from rest to peak exercise were examined using mixed-effects regression models. Compared to the low performers (n = 17), high performers (n = 12) were younger (12.8 ± 3.3 years vs. 18.3 ± 4.8 years), had normal chronotropic response (peak heart rate > 185 bpm) with greater heart rate reserve and superior physical working capacity. High performers also had a greater reduction in PI at peak exercise, despite greater PI severity at rest. Oxygen pulse was comparable between groups. For both groups, there was no association of PI severity and RV systolic function at rest with exercise parameters. There was no group difference in the magnitude of change in RV strain and diastolic parameters from rest to peak exercise. Chronotropic response to exercise appears to be an important parameter with which to assess exercise performance in rTOF. Chronotropic health should be taken into consideration in this population, particularly given that RV function and PI severity at rest were not associated with exercise performance.

PMID: 30121867 [PubMed - indexed for MEDLINE]

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[Association between congenital heart disease and medication taken during pregnancy among women of childbearing age].

Zhonghua Liu Xing Bing Xue Za Zhi. 2018 Oct 10;39(10):1333-1338

Authors: Li MM, Guo LQ, Li SS, Zhang Q, Zhao DD, Zhang BY, Dang SN, Yan H

Objective: To analyze the relationship between medication taken during pregnancy and congenital heart disease of the newborns. Methods: A large cross-sectional survey was conducted between August and November 2013. A questionnaire survey was conducted among the childbearing aged women, selected through multistage stratified random sampling in Shaanxi from 2010 to 2013. All of the childbearing aged women under study were in pregnancy and with definite pregnancy outcomes. Multivariable Poisson regression was conducted for data analyses. Results: A total of 28 680 cases were included in this study. The proportion of medication taken at any time during pregnancy was 16.0%, and the prevalence of congenital heart disease among the newborns was 67.9/10 000. After adjustment for factors as general demographic characteristic, history of heart disease and drug allergy and the situation of disease during pregnancy of these women, results from the multivariable Poisson regression showed that, factors as taking drugs (RR=1.95, 95%CI: 1.42- 2.68), cold medicine (RR=1.68, 95%CI: 1.07-2.64), antibiotics (RR=1.90, 95%CI: 1.25-2.90), salicylates (RR=5.01, 95%CI: 1.84-13.64) and antifungal drugs (RR=10.22, 95%CI: 3.25-32.19) during pregnancy were all related to congenital heart disease, and with the history of taking cold medicine (RR=1.90, 95%CI: 1.01-3.61), antibiotics (RR=2.18, 95%CI: 1.17-4.06), salicylates (RR=6.07, 95%CI: 1.45-25.41), antifungal drugs (RR=21.01, 95%CI: 4.17-105.87) and other drugs (RR=2.31, 95%CI: 1.19-4.47) during early pregnancy. These factors were with higher risks for congenital heart disease. Conclusion: Women of childbearing age who took cold medicine, antibiotics, salicylic acid drugs, antifungal drugs and other drugs during early pregnancy would increase the risks related to congenital heart diseases.

PMID: 30453433 [PubMed - indexed for MEDLINE]

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Patient-reported outcomes of adults with congenital heart disease from eight European countries: scrutinising the association with healthcare system performance.

Eur J Cardiovasc Nurs. 2019 Feb 26;:1474515119834484

Authors: Van Bulck L, Luyckx K, Goossens E, Apers S, Kovacs AH, Thomet C, Budts W, Sluman MA, Eriksen K, Dellborg M, Berghammer M, Johansson B, Caruana M, Soufi A, Callus E, Moons P

BACKGROUND:: Inter-country variation in patient-reported outcomes of adults with congenital heart disease has been observed. Country-specific characteristics may play a role. A previous study found an association between healthcare system performance and patient-reported outcomes. However, it remains unknown which specific components of the countries' healthcare system performance are of importance for patient-reported outcomes.
AIMS:: The aim of this study was to investigate the relationship between components of healthcare system performance and patient-reported outcomes in a large sample of adults with congenital heart disease.
METHODS:: A total of 1591 adults with congenital heart disease (median age 34 years; 51% men; 32% simple, 48% moderate and 20% complex defects) from eight European countries were included in this cross-sectional study. The following patient-reported outcomes were measured: perceived physical and mental health, psychological distress, health behaviours and quality of life. The Euro Health Consumer Index 2015 and the Euro Heart Index 2016 were used as measures of healthcare system performance. General linear mixed models were conducted, adjusting for patient-specific variables and unmeasured country differences.
RESULTS:: Health risk behaviours were associated with the Euro Health Consumer Index subdomains about patient rights and information, health outcomes and financing and access to pharmaceuticals. Perceived physical health was associated with the Euro Health Consumer Index subdomain about prevention of chronic diseases. Subscales of the Euro Heart Index were not associated with patient-reported outcomes.
CONCLUSION:: Several features of healthcare system performance are associated with perceived physical health and health risk behaviour in adults with congenital heart disease. Before recommendations for policy-makers and clinicians can be conducted, future research ought to investigate the impact of the healthcare system performance on outcomes further.

PMID: 30808198 [PubMed - as supplied by publisher]

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Reconstruction of anomalous left coronary artery from pulmonary artery in an adult patient: a case report.

J Cardiothorac Surg. 2019 Feb 26;14(1):40

Authors: Mori K, Anai H, Wada T, Shuto T, Miyamoto S

BACKGROUND: Anomalous left coronary artery from the pulmonary artery is a congenital heart disease in which myocardial ischemia occurs within 1 year of birth. Adults have been reported to survive owing to the development of collateral perfusion from right coronary artery. In these cases, however, revascularization is necessary to prevent sudden cardiac death.
CASE PRESENTATION: A 62-year-old female gradually started experiencing dyspnea during exercise. Coronary computed tomography revealed that the left coronary artery arose from the main pulmonary artery. The patient was subsequently diagnosed with adult-type, anomalous left coronary artery from the pulmonary artery. She underwent a surgery, in which a 6-mm vascular prosthesis was passed through the main pulmonary artery to anastomose the left coronary artery and ascending aorta.
CONCLUSION: Our reconstructive technique using vascular prosthesis is effective for anomalous left coronary artery from pulmonary artery in adults.

PMID: 30808374 [PubMed - in process]

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Sudden death in transposition of the great arteries with atrial switch surgery: Autopsy evidence of acute myocardial ischemia despite normal coronary arteries.

Int J Cardiol. 2019 Feb 14;:

Authors: Chaix MA, Chergui M, Leduc C, Khairy P

BACKGROUND: Sudden death is the leading cause of mortality in patients with transposition of the great arteries (TGA) and atrial switch surgery. Understanding underlying mechanisms could contribute to identifying high-risk patients and preventing such catastrophic deaths.
METHODS: A total of 144 adults (≥18 years) with TGA and atrial switch surgery were followed at our adult congenital center since 1989. Four patients were excluded: two with double-outlet right ventricles and two with subsequent arterial switch surgery in childhood.
RESULTS: Of the remaining 140 patients, age 37.6 ± 7.8 years, 37.1% female, 8 (6%) had a cardiac arrest of presumed arrhythmic etiology of whom 3 were resuscitated. The arrests occurred in 3 women and 5 men at age 30.5 ± 8.6 (range 22 to 50) years. None had established coronary artery disease, sustained ventricular arrhythmias, or syncope. Four (50%) had atrial arrhythmias and 6 (75%) had at least moderate systemic right ventricular dysfunction. For 5 patients in whom circumstances surrounding the arrests were documented, 3 occurred on exertion, 1 after consuming recreational methamphetamine, and 1 in the context of an atrial tachyarrhythmia. Autopsies were performed in 2 of 5 patients. Both revealed acute massive myocardial infarction of the hypertrophied systemic right ventricle with normal coronary arteries and chronic subendocardial ischemic lesions.
CONCLUSION: This is the first report to provide histopathological evidence in support of a myocardial ischemia hypothesis as a cause of sudden death in this patient population, despite the absence of coronary atherosclerosis.

PMID: 30808604 [PubMed - as supplied by publisher]