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Aortic arch geometry predicts outcome in patients with Loeys-Dietz syndrome independent of the causative gene.

Am J Med Genet A. 2020 Apr 30;:

Authors: Mariucci E, Spinardi L, Stagni S, Graziano C, Lovato L, Pacini D, Di Marco L, Careddu L, Angeli E, Ciuca C, Wischmeijer A, Gargiulo G, Donti A

This study aimed to investigate the potential association between imaging features and cardiovascular outcomes in patients with Loeys-Dietz syndrome (LDS). We performed a retrospective cohort study of 36 patients with LDS and described cardiovascular events and imaging data. We observed different clinical courses in patients with LDS, irrespective of the causative gene. Angular or elongated aortic arch geometry correlated with aortic dissection (R = .39, p = .02), occurrence of the first cardiovascular event before 45 years of age (R = .36, p = .03), and the number of operations (R = 0.47, p = .004), but not with age (R = -.05, p = .79) or the causative gene (R = -0.04, p = .79). The incidences of first cardiovascular events at ages 20, 40, and 60 years were 100, 75, and 56%, respectively, in patients with normal aortic arches, and 74, 39, and 21%, respectively, in patients with angular or elongated aortic arches (log-rank p = .03). Angular or elongated aortic arch geometry is associated with early-onset of disease and a worse cardiovascular outcome in LDS patients. Large multicenter studies are warranted to elucidate the impact of aortic arch morphology evaluation in clinical practice.

PMID: 32352226 [PubMed - as supplied by publisher]

Assessment of right ventricular function in patients with pulmonary arterial hypertension-congenital heart disease and repaired and unrepaired defects: Correlation among speckle tracking, conventional echocardiography, and clinical parameters.

Anatol J Cardiol. 2020 Apr;23(5):277-287

Authors: Kemal HS, Kayıkçıoğlu M, Nalbantgil S, Can LH, Moğulkoç N, Kültürsay H

OBJECTIVE: The purpose of this study is to compare the analysis of right ventricular (RV) free wall strain via 2D speckle tracking echocardiography with conventional echocardiography and clinical parameters in patients with pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) receiving specific treatment. This study also aims to describe the differences between patients with repaired and unrepaired defects.
METHODS: This prospective study included 44 adult patients with PAH-CHD who were receiving PAH-specific treatment in a single center. This study excluded patients with complex congenital heart disease. The authors studied the conventional echocardiographic parameters, such as RV fractional area change (FAC), tricuspid annular plane systolic excursion (TAPSE), right atrial (RA) area, Tricuspid S', and hemodynamic parameters, such as functional class, 6-minute walking distance (6MWD), and N-terminal pro-brain natriuretic peptide (NT-proBNP) levels.
RESULTS: The mean age of participants was 33.8±11.6 years, and 65.9% of participants were female. The mean RV free wall strain was -14.8±4.7%. Majority of the patients belonged to WHO functional class 2 (61.4%) with a mean NT-proBNP level of 619.2±778.4 and mean 6MWD of 400.2±86.9 meters. During the follow-up of 30.8±9.0 months, 6 patients (13.6%) developed clinical right heart failure, whereas 9 (20.5%) of them died. There was a positive and significant correlation between RV free wall strain and WHO functional class (r=0.320, p=0.03), whereas there was a negative correlation between RV free wall strain and FAC (r=-0.392, p=0.01), TAPSE (r=-0.577, p=0.0001), and Tricuspid S' (r=-0.489, p=0.001). There was no significant correlation of RV free wall strain with either RA area or 6MWD. Patients with repaired congenital heart defects had worse RV functional parameters and RV free wall strain than patients with unrepaired defects.
CONCLUSION: The assessment of RV free wall strain via 2D speckle tracking echocardiography is a feasible method and correlates well with conventional echocardiography and clinical parameters in patients with PAH-CHD receiving specific treatment. (Anatol J Cardiol 2020; 23: 277-87).

PMID: 32352408 [PubMed - as supplied by publisher]

Minimally invasive periareolar approach to repair sinus venosus atrial septal defect with partial anomalous pulmonary venous connection.

J Card Surg. 2020 Apr 30;:

Authors: Bozso SJ, Evans B, Chu MWA

BACKGROUND AND AIM: Atrial septal defects with anomalous venous connections are commonly repaired via sternotomy, requiring careful baffle reconstruction to redirect pulmonary venous return and ensure a durable result. The cosmetically appealing periareolar incision may provide an esthetically superior alternative to the anterolateral minithoracotomy incision used in minimally invasive cardiac surgery.
METHODS: We describe a patient with a sinus venosus atrial septal defect and partial anomalous pulmonary venous connection who underwent successful minimally invasive, endoscopic repair with apical vein translocation and autologous pericardial baffle reconstruction through a periareolar approach.
RESULTS: Post-operative echocardiography demonstrated excellent results with no residual shunt and a widely patent baffle and preserved biventricular function. At 1-year post-op, our patient has had a greatly improved quality of life and an excellent cosmetic result with normal nipple-areolar sensation.
CONCLUSIONS: We believe that periareolar approaches should be considered for all adult patients with simple and complex atrial septal defects.

PMID: 32353904 [PubMed - as supplied by publisher]

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4D flow cardiovascular magnetic resonance for monitoring of aortic valve repair in bicuspid aortic valve disease.

J Cardiovasc Magn Reson. 2020 Apr 30;22(1):29

Authors: Lenz A, Petersen J, Riedel C, Weinrich JM, Kooijman H, Schoennagel BP, Adam G, von Kodolitsch Y, Reichenspurner H, Girdauskas E, Bannas P

BACKGROUND: Aortic valve repair has become a treatment option for adults with symptomatic bicuspid (BAV) or unicuspid (UAV) aortic valve insufficiency. Our aim was to demonstrate the feasibility of 4D flow cardiovascular magnetic resonance (CMR) to assess the impact of aortic valve repair on changes in blood flow dynamics in patients with symptomatic BAV or UAV.
METHODS: Twenty patients with adult congenital heart disease (median 35 years, range 18-64; 16 male) and symptomatic aortic valve regurgitation (15 BAV, 5 UAV) were prospectively studied. All patients underwent 4D flow CMR before and after aortic valve repair. Aortic valve regurgitant fraction and systolic peak velocity were estimated. The degree of helical and vortical flow was evaluated according to a 3-point scale. Relative flow displacement and wall shear stress (WSS) were quantified at predefined levels in the thoracic aorta.
RESULTS: All patients underwent successful aortic valve repair with a significant reduction of aortic valve regurgitation (16.7 ± 9.8% to 6.4 ± 4.4%, p < 0.001) and systolic peak velocity (2.3 ± 0.9 to 1.9 ± 0.4 m/s, p = 0.014). Both helical flow (1.6 ± 0.6 vs. 0.9 ± 0.5, p < 0.001) and vortical flow (1.2 ± 0.8 vs. 0.5 ± 0.6, p = 0.002) as well as both flow displacement (0.3 ± 0.1 vs. 0.25 ± 0.1, p = 0.031) and WSS (0.8 ± 0.2 N/m2 vs. 0.5 ± 0.2 N/m2, p < 0.001) in the ascending aorta were significantly reduced after aortic valve repair.
CONCLUSIONS: 4D flow CMR allows assessment of the impact of aortic valve repair on changes in blood flow dynamics in patients with bicuspid aortic valve disease.

PMID: 32354361 [PubMed - in process]

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Eligibility for subcutaneous implantable cardioverter-defibrillator in congenital heart disease.

Heart Rhythm. 2020 May;17(5 Pt B):860-869

Authors: Wang L, Javadekar N, Rajagopalan A, Rogovoy NM, Haq KT, Broberg CS, Tereshchenko LG

BACKGROUND: Adult congenital heart disease (ACHD) patients can benefit from a subcutaneous implantable cardioverter-defibrillator (S-ICD).
OBJECTIVE: The purpose of this study was to assess left- and right-sided S-ICD eligibility in ACHD patients, use machine learning to predict S-ICD eligibility in ACHD patients, and transform 12-lead electrocardiogram (ECG) to S-ICD 3-lead ECG, and vice versa.
METHODS: ACHD outpatients (n = 101; age 42 ± 14 years; 52% female; 85% white; left ventricular ejection fraction [LVEF] 56% ± 9%) were enrolled in a prospective study. Supine and standing 12-lead ECG were recorded simultaneously with a right- and left-sided S-ICD 3-lead ECG. Peak-to-peak QRS and T amplitudes; RR, PR, QT, QTc, and QRS intervals; Tmax, and R/Tmax (31 predictor variables) were tested. Model selection, training, and testing were performed using supine ECG datasets. Validation was performed using standing ECG datasets and an out-of-sample non-ACHD population (n = 68; age 54 ± 16 years; 54% female; 94% white; LVEF 61% ± 8%).
RESULTS: Forty percent of participants were ineligible for S-ICD. Tetralogy of Fallot patients passed right-sided screening (57%) more often than left-sided screening (21%; McNemar χ2P = .025). Female participants had greater odds of eligibility (adjusted odds ratio [OR] 5.9; 95% confidence interval [CI] 1.6-21.7; P = .008). Validation of the ridge models was satisfactory for standing left-sided (receiver operating characteristic area under the curve [ROC AUC] 0.687; 95% CI 0.582-0.791) and right-sided (ROC AUC 0.655; 95% CI 0.549-0.762) S-ICD eligibility prediction. Validation of transformation matrices showed satisfactory agreement (<0.1 mV difference).
CONCLUSION: Nearly half of the contemporary ACHD population is ineligible for S-ICD. The odds of S-ICD eligibility are greater for female than for male ACHD patients. Machine learning prediction of S-ICD eligibility can be used for screening of S-ICD candidates.

PMID: 32354451 [PubMed - in process]

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Polysplenia Syndrome as a Risk Factor for Early Progression of Pulmonary Hypertension.

Circ J. 2019 03 25;83(4):831-836

Authors: Shibata A, Mori H, Kodo K, Nakanishi T, Yamagishi H

BACKGROUND: Recent progress in surgical and intensive care has improved the prognosis of congenital heart disease (CHD) associated with heterotaxy syndrome. Less is known, however, about pulmonary vascular complications in these patients. Methods and Results: We reviewed medical records of 236 patients who were diagnosed with polysplenia syndrome at 2 institutions for pediatric cardiology in Japan from 1978 to 2015. We selected and compared the clinical records of 16 patients with polysplenia who had incomplete atrioventricular septal defect (AVSD) as the polysplenia group, and 22 age-matched patients with incomplete AVSD without any syndromes including polysplenia as the control group. Although the severity of systemic to pulmonary shunt was not significantly different between the groups, mean pulmonary artery pressure (mPAP) and pulmonary vascular resistance index (PVRI) were significantly higher in the polysplenia group than the control (mPAP, 37.3 vs. 19.1 mmHg, P=0.001; PVRI, 5.7 vs. 1.4 WU∙m2, P=0.014) before surgical intervention. On regression analysis, polysplenia influenced the development of pulmonary hypertension (PH) regardless of age at evaluation or degree of systemic to pulmonary shunt in the patients with incomplete AVSD.
CONCLUSIONS: Polysplenia syndrome is an independent risk factor for CHD-associated PH. Earlier intervention may be required to adjust the pulmonary blood flow in polysplenia syndrome with CHD to avoid the progression of PH.

PMID: 30842375 [PubMed - indexed for MEDLINE]

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Fetal cardiac findings and hemodynamic changes associated with severe lower urinary tract obstruction in utero.

Ultrasound Obstet Gynecol. 2019 Dec;54(6):780-785

Authors: Cohen J, Levasseur S, Simpson L, Miller R, Freud L

OBJECTIVES: To describe fetal echocardiographic findings associated with lower urinary tract obstruction (LUTO) and to compare anatomic and hemodynamic measurements between fetuses with LUTO and gestational age (GA)-matched controls, with an emphasis on quantitative indices of diastolic function and cardiac output.
METHODS: This was a retrospective cohort study of fetuses diagnosed with severe LUTO with giant bladder, which underwent at least one fetal echocardiogram at our center between January 2005 and June 2018. Fetuses with major congenital heart disease were excluded. Control fetuses did not have any structural or functional abnormalities and were GA-matched to the LUTO fetuses based on the time of the first fetal echocardiogram. Cardiac anatomy and hemodynamic measurements were compared between fetuses with LUTO and controls. In infants with LUTO, serial fetal and postnatal echocardiographic data were assessed, when available, and clinical outcomes were reviewed.
RESULTS: Twenty-six fetuses with LUTO and at least one fetal echocardiogram available were identified, one of which was excluded due to hypoplastic left heart syndrome, leaving 25 LUTO fetuses in the final cohort. The mean GA at the first fetal echocardiogram was 25.4 ± 5.1 weeks in the LUTO group and 25.3 ± 5.0 weeks in the control group. Common findings in fetuses with LUTO included cardiomegaly (40%), pericardial effusion (44%), right ventricular (RV) hypertrophy (64%) and left ventricular (LV) hypertrophy (48%). Compared with GA-matched controls, LUTO fetuses had lower ascending aorta Z-score (-0.10 ± 0.94 vs -0.93 ± 1.03; P = 0.02) and aortic isthmus Z-score (-0.14 ± 0.86 vs -1.62 ± 1.11; P < 0.001), shorter mitral valve inflow time indexed to cardiac cycle length (0.46 ± 0.04 vs 0.41 ± 0.06; P = 0.002), and worse (increased) LV myocardial performance index (0.39 ± 0.03 vs 0.44 ± 0.04; P < 0.001). In addition, the ratio of RV to LV cardiac index was higher in LUTO fetuses compared with controls (1.62 ± 0.13 vs 1.33 ± 0.11; P < 0.001). Of the 25 LUTO pregnancies, two were lost to follow-up, three underwent elective termination of pregnancy and three ended in intrauterine fetal demise. Four (16%) patients had mildly hypoplastic left-heart structures, comprising two with aortic arch hypoplasia and two with mitral and aortic stenosis.
CONCLUSION: In addition to presenting with cardiomegaly, pericardial effusion and ventricular hypertrophy, fetuses with LUTO demonstrate LV diastolic dysfunction and appear to redistribute cardiac output as compared to control fetuses, which may contribute to the development of left-heart hypoplasia. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd.

PMID: 30908816 [PubMed - indexed for MEDLINE]

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mDixon ECG-gated 3-dimensional cardiovascular magnetic resonance angiography in patients with congenital cardiovascular disease.

J Cardiovasc Magn Reson. 2019 08 08;21(1):52

Authors: Kourtidou S, Jones MR, Moore RA, Tretter JT, Ollberding NJ, Crotty EJ, Rattan MS, Fleck RJ, Taylor MD

BACKGROUND: Cardiovascular magnetic resonance (CMR) angiography (CMRA) is an important non-invasive imaging tool for congenital heart disease (CHD) and aortopathy patients. The conventional 3D balanced steady-state free precession (bSSFP) sequence is often confounded by imaging artifacts. We sought to compare the respiratory navigated and electrocardiogram (ECG) gated modified Dixon (mDixon) CMRA sequence to conventional non-gated dynamic multi-phase contrast enhanced CMRA (CE-CMRA) and bSSFP across a variety of diagnoses.
METHODS: We included 24 patients with CHD or aortopathy with CMR performed between September 2017 to December 2017. Each patient had undergone CE-CMRA, followed by a bSSFP and mDixon angiogram. Patients with CMR-incompatible implants or contraindications to contrast were excluded. The studies were rated according to image quality at a scale from 1 (poor) to 4 (excellent) based on diagnostic adequacy, artifact burden, vascular border delineation, myocardium-blood pool contrast, and visualization of pulmonary and systemic veins and coronaries. Contrast-to-noise ratio (CNR), signal-to-noise ratio (SNR) and quantitative vascular measurements were compared between the two gated sequences. Bland-Altman plots were generated to compare paired measures.
RESULTS: All scans were diagnostically adequate. Mean (SD) quality scores were 3.4 (0.7) for the mDixon, 3.2 (0.5) for the bSSFP and 3.4 (0.5) for the CE-CMRA. Qualitatively, the intracardiac anatomy and myocardium-blood pool definition were better in the bSSFP; however, mDixon images showed enhanced vessel wall sharpness with less blurring surrounding the anatomical borders distally. Coronary origins were identified in all cases. Pulmonary veins were visualized in 92% of mDixon sequences, 75% of bSSFP and 96% of CE-CMRA. Similarly, neck veins were identified in 92, 83 and 96% respectively. Artifacts prevented vascular measurement in 6/192 (3%) and 4/192 (2%) of total vascular measurements for the mDixon and bSSFP, respectively. However, the size of signal void and field distortion were significantly worse in the latter, particularly for flow and metal induced artifacts.
CONCLUSION: In patients with congenital heart disease, ECG gated mDixon angiography yields high fidelity vascular images including better delineation of head and neck vasculature and pulmonary veins and fewer artifacts than the comparable bSSFP sequence. It should be considered as the preferred strategy for successful CHD imaging in patients with valve stenosis, vascular stents, or metallic implants.

PMID: 31391061 [PubMed - indexed for MEDLINE]

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Mothers with long QT syndrome are at increased risk for fetal death: findings from a multicenter international study.

Am J Obstet Gynecol. 2020 03;222(3):263.e1-263.e11

Authors: Cuneo BF, Kaizer AM, Clur SA, Swan H, Herberg U, Winbo A, Rydberg A, Haugaa K, Etheridge S, Ackerman MJ, Dagradi F, Killen SAS, Wacker-Gussmann A, Benson DW, Wilde AAM, Pan Z, Lam A, Spazzolini C, Horigome H, Schwartz PJ, Fetal LQTS Consortium

BACKGROUND: Most fetal deaths are unexplained. Long QT syndrome is a genetic disorder of cardiac ion channels. Affected individuals, including fetuses, are predisposed to sudden death. We sought to determine the risk of fetal death in familial long QT syndrome, in which the mother or father carries the long QT syndrome genotype. In addition, we assessed whether risk differed if the long QT syndrome genotype was inherited from the mother or father.
OBJECTIVE: This was a retrospective review of pregnancies in families with the 3 most common heterozygous pathogenic long QT syndrome genotypes in KCNQ1 (LQT1), KCNH2 (LQT2), or SCN5A (LQT3), which occur in approximately 1 in 2000 individuals. The purpose of our study was to compare pregnancy and birth outcomes in familial long QT syndrome with the normal population and between maternal and paternal carriers of the long QT syndrome genotype. We hypothesized that fetal death before (miscarriage) and after (stillbirths) 20 weeks gestation would be increased in familial long QT syndrome compared with the normal population and that the parent of origin would not affect birth outcomes.
STUDY DESIGN: Our study was a multicenter observational case series of 148 pregnancies from 103 families (80 mothers, 23 fathers) with familial long QT syndrome (60 with LQT1, 29 with LQT2, 14 with LQT3) who were recruited from 11 international centers with expertise in hereditary heart rhythm diseases, pediatric and/or adult electrophysiology, and high-risk pregnancies. Clinical databases from these sites were reviewed for long QT syndrome that occurred in men or women of childbearing age (18-40 years). Pregnancy outcomes (livebirth, stillbirth, and miscarriage), birthweights, and gestational age at delivery were compared among long QT syndrome genotypes and between maternal vs paternal long QT syndrome-affected status with the use of logistic regression analysis.
RESULTS: Most offspring (80%; 118/148) were liveborn at term; 66% of offspring (73/110) had long QT syndrome. Newborn infants of mothers with long QT syndrome were delivered earlier and, when the data were controlled for gestational age, weighed less than newborn infants of long QT syndrome fathers. Fetal arrhythmias were observed rarely, but stillbirths (fetal death at >20 weeks gestation) were 8 times more frequent in long QT syndrome (4% vs approximately 0.5%); miscarriages (fetal death at ≤20 weeks gestation) were 2 times that of the general population (16% vs 8%). The likelihood of fetal death was significantly greater with maternal vs paternal long QT syndrome (24.4% vs 3.4%; P=.036). Only 10% of all fetal deaths underwent postmortem long QT syndrome testing; 2 of 3 cases were positive for the family long QT syndrome genotype.
CONCLUSION: This is the first report to demonstrate that mothers with long QT syndrome are at increased risk of fetal death and to uncover a previously unreported cause of stillbirth. Our results suggest that maternal effects of long QT syndrome channelopathy may cause placental or myometrial dysfunction that confers increased susceptibility to fetal death and growth restriction in newborn survivors, regardless of long QT syndrome status.

PMID: 31520628 [PubMed - indexed for MEDLINE]

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Repaired coarctation of the aorta, persistent arterial hypertension and the selfish brain.

J Cardiovasc Magn Reson. 2019 11 07;21(1):68

Authors: Rodrigues JCL, Jaring MFR, Werndle MC, Mitrousi K, Lyen SM, Nightingale AK, Hamilton MCK, Curtis SL, Manghat NE, Paton JFR, Hart EC

BACKGROUND: It has been estimated that 20-30% of repaired aortic coarctation (CoA) patients develop hypertension, with significant cardiovascular morbidity and mortality. Vertebral artery hypoplasia (VAH) with an incomplete posterior circle of Willis (ipCoW; VAH + ipCoW) is associated with increased cerebrovascular resistance before the onset of increased sympathetic nerve activity in borderline hypertensive humans, suggesting brainstem hypoperfusion may evoke hypertension to maintain cerebral blood flow: the "selfish brain" hypothesis. We now assess the "selfish brain" in hypertension post-CoA repair.
METHODS: Time-of-flight cardiovascular magnetic resonance angiography from 127 repaired CoA patients (34 ± 14 years, 61% male, systolic blood pressure (SBP) 138 ± 19 mmHg, diastolic blood pressure (DBP) 76 ± 11 mmHg) was compared with 33 normotensive controls (42 ± 14 years, 48% male, SBP 124 ± 10 mmHg, DBP 76 ± 8 mmHg). VAH was defined as < 2 mm and ipCoW as hypoplasia of one or both posterior communicating arteries.
RESULTS: VAH + ipCoW was more prevalent in repaired CoA than controls (odds ratio: 5.8 [1.6-20.8], p = 0.007), after controlling for age, sex and body mass index (BMI). VAH + ipCoW was an independent predictor of hypertension (odds ratio: 2.5 [1.2-5.2], p = 0.017), after controlling for age, gender and BMI. Repaired CoA subjects with VAH + ipCoW were more likely to have difficult to treat hypertension (odds ratio: 3.3 [1.01-10.7], p = 0.049). Neither age at time of CoA repair nor any specific repair type were significant predictors of VAH + ipCoW in univariate regression analysis.
CONCLUSIONS: VAH + ipCoW predicts arterial hypertension and difficult to treat hypertension in repaired CoA. It is unrelated to age at time of repair or repair type. CoA appears to be a marker of wider congenital cerebrovascular problems. Understanding the "selfish brain" in post-CoA repair may help guide management.
JOURNAL SUBJECT CODES: High Blood Pressure; Hypertension; Magnetic Resonance Imaging (MRI); Cardiovascular Surgery; Cerebrovascular Malformations.

PMID: 31703697 [PubMed - indexed for MEDLINE]