Journal Watch

Related Articles

No-React® Injectable BioPulmonic™ valves re-evaluated: discouraging follow-up results.

Interact Cardiovasc Thorac Surg. 2015 Nov;21(5):657-65

Authors: Grohmann J, Höhn R, Fleck T, Stiller B, Neumann E, Sigler M, Kroll J, Beyersdorf F, Siepe M

OBJECTIVES: The No-React® Injectable BioPulmonic™ valve (BioIntegral) was introduced for minimally invasive off-pump replacement of the pulmonary valve almost 10 years ago. We present our mid- to long-term follow-up results.
METHODS: We conducted a retrospective analysis of all 7 patients treated at our institution at the median age of 9 (range 1-24) years. The children underwent cardiac catheterization when worsening strain on the right heart was suspected after examining their medical history and/or observing significant changes on echocardiography.
RESULTS: After a median follow-up period lasting 5.2 (range 0.7-6.7) years, all patients presented the indication for recatheterization, particularly because the maximum instantaneous velocity measured by Doppler had revealed systolic gradients of a median 63 (dP 18-74) mmHg across the right ventricular outflow. Catheterization confirmed severe stenosis in 2, and moderate stenosis together with moderate insufficiency in 4 patients. We observed two principal failure mechanisms: technical problems resulting from poor alignment to the right ventricular outflow tract and structural problems leading to neointimal proliferation even in cases with appropriate prosthesis positioning. At median of 5.7 (0.7-7) years after implantation, 6 of the 7 patients underwent valve rereplacement. Redo surgery was necessary in 3, and percutaneous valve-in-valve implantation in the remaining 3 patients. Histological analysis of two explanted valves confirmed significant neointima proliferation and thickened valve cusps leading to stenosis of the graft.
CONCLUSIONS: These mid-term results after implantation of the No-React® Injectable BioPulmonic™ valve are disappointing. Graft failure was mainly due to neointimal formation and valve malposition.

PMID: 26232985 [PubMed - indexed for MEDLINE]

Related Articles

A HAND2 Loss-of-Function Mutation Causes Familial Ventricular Septal Defect and Pulmonary Stenosis.

G3 (Bethesda). 2016 Apr 07;6(4):987-92

Authors: Sun YM, Wang J, Qiu XB, Yuan F, Li RG, Xu YJ, Qu XK, Shi HY, Hou XM, Huang RT, Xue S, Yang YQ

Congenital heart disease (CHD) is the most common developmental abnormality, and is the leading noninfectious cause of mortality in neonates. Increasing evidence demonstrates that genetic defects play an important role in the pathogenesis of CHD. However, CHD exhibits substantial heterogeneity, and the genetic determinants for CHD remain unknown in the overwhelming majority of cases. In the current study, the coding exons and flanking introns of the HAND2 gene, which encodes a basic helix-loop-helix transcription factor essential for normal cardiovascular development, were sequenced in 192 unrelated patients with CHD, and a novel heterozygous mutation, p.S65I, was identified in a patient with congenital ventricular septal defect (VSD). Genetic analysis of the index patient's pedigree revealed that the mutation was present in all seven affected family members available, but absent in the 13 unaffected family members examined. Besides, in addition to VSD, five of the proband's close relatives also had pulmonary stenosis (PS), and the proband's son also had double outlet right ventricle (DORV). The missense mutation, which altered an evolutionarily conserved amino acid, was absent in 300 unrelated, ethnically matched healthy individuals. Biological analyses using a dual-luciferase reporter assay system showed that the mutant HAND2 was associated with significantly diminished transcriptional activity. Furthermore, the mutation abolished the synergistic activation between HAND2 and GATA4, as well as NKX2.5-two other cardiac core transcriptional factors that have been causally linked to CHD. These findings indicate that HAND2 loss-of-function mutation contributes to human CHD, perhaps via its interaction with GATA4 and NKX2.5.

PMID: 26865696 [PubMed - indexed for MEDLINE]

Related Articles

Homozygous Mutation of the FGFR1 Gene Associated with Congenital Heart Disease and 46,XY Disorder of Sex Development.

Sex Dev. 2016;10(1):16-22

Authors: Mazen I, Amin H, Kamel A, El Ruby M, Bignon-Topalovic J, Bashamboo A, McElreavey K

Congenital heart diseases (CHDs) are the most common cause of all birth defects and account for nearly 25% of all major congenital anomalies leading to mortality in the first year of life. Extracardiac anomalies including urogenital aberrations are present in ∼30% of all cases. Here, we present a rare case of a 46,XY patient with CHD associated with ambiguous genitalia consisting of a clitoris-like phallus and a bifid scrotum. Exome sequencing revealed novel homozygous mutations in the FGFR1 and STARD3 genes that may be associated with the phenotype.

PMID: 27055092 [PubMed - indexed for MEDLINE]

Related Articles

Comparison of participants and non-participants in patient-reported outcome surveys: the case of Assessment of Patterns of Patient-Reported Outcomes in Adults with Congenital Heart disease - International Study.

Cardiol Young. 2017 Apr;27(3):427-434

Authors: Berghammer MC, Mattsson E, Johansson B, Moons P, Dellborg M

BACKGROUND: The last decade has seen a vast increase in the use of patient-reported outcomes. As patient-reported outcomes are used in order to capture patients' perspectives of their health and illness, it is a prerequisite for accurate patient-reported outcome evaluations to use representative samples. In order to evaluate representativeness, the present study focussed on the comparison between participants and non-participants in the Swedish branch of the international study APPROACH-IS (Assessment of Patterns of Patient-Reported Outcomes in Adults with Congenital Heart disease - International Study), regarding demographic, clinical, and health status characteristics.
METHODS: Eligible patients for APPROACH-IS were identified and selected from SWEDCON, the Swedish registry for congenital heart disease (CHD). Overall, 912 eligible patients were identified, of whom 471 participated, 398 did not participate, and 43 were either unreachable or declined to participate in APPROACH-IS. The participants and non-participants were compared in terms of statistical significance and effect sizes.
RESULTS: Significant differences were observed between participants and non-participants for sex, age, primary diagnosis, number of cardiac operations, and fatigue; however, the effect sizes were in general small, except for the difference in primary diagnosis. No differences between the two groups were found in number of catheterisations, implanted device, the distribution of NYHA functional class, or health status and symptoms.
CONCLUSIONS: This study shows that participants and non-participants are relatively comparable groups, which confirms the representativeness of the participants. The Swedish data from APPROACH-IS can therefore be reliably generalised to the population of adults with CHD in Sweden.

PMID: 27167242 [PubMed - indexed for MEDLINE]

Related Articles

Identification of fetal cardiac anatomy and hemodynamics: a novel enhanced screening protocol.

BMC Pregnancy Childbirth. 2016 Jun 30;16:145

Authors: Zhang Y, Cai AL, Ren WD, Guo YJ, Zhang DY, Sun W, Wang Y, Wang L, Qin Y, Huang LP

BACKGROUND: Prenatal cardiac screening is of great importance as it contributes to appropriate neonatal management and helps parents to make a decision regarding their pregnancy. The aim of our study was to evaluate the efficiency of a newly proposed screening protocol in the detection of fetal congenital heart disease (CHD).
METHODS: This was a prospective study. A total of 52 cases of confirmed CHD fetuses and 248 cases of randomly selected normal fetuses were included in the study. Two sonographers with similar experience performed the cardiac screenings under two different protocols independently. The conventional protocol (Protocol A) paid greater attention to the four-chamber view and the outflow tract views. A 6-month training program was provided to sonographers performing scans under the new protocol (Protocol B), which emphasized systematically evaluating fetal cardiac anatomy and hemodynamics. Color Doppler was mandatory and some ultrasonic signs for special cardiac anomalies were also introduced into this protocol.
RESULTS: Protocol B detected more cardiac anomalies than did Protocol A (96.2 % vs. 61.5 %, P < 0.01). Specifically, Protocol B was superior to Protocol A in detecting cardiac malpositions, abnormal systemic and pulmonary venous connection, right aortic arch, transposition of the great arteries, and congenital corrected transposition of the great arteries. By visualizing flow disturbance and retrograde flow with color Doppler, Protocol B was better than Protocol A in screening valvular associated malformations, such as pulmonary atresia, pulmonary stenosis, tricuspid dysplasia, etc. For the normal fetuses, Protocol B was better than Protocol A in reducing the false-positive detection of septal defects.
CONCLUSIONS: The current study introduces an enhanced protocol for fetal cardiac screening, under which the obstetric screening sonographers systematically identify fetal cardiac anatomy and hemodynamics. A short-term training program makes it possible for the screening sonographers to become familiar with the new protocol, and its value has been confirmed due to improvements made in screening efficiency.

PMID: 27363399 [PubMed - indexed for MEDLINE]

Related Articles

Normal ranges for fetal electrocardiogram values for the healthy fetus of 18-24 weeks of gestation: a prospective cohort study.

BMC Pregnancy Childbirth. 2016 Aug 17;16:227

Authors: Verdurmen KMJ, Lempersz C, Vullings R, Schroer C, Delhaas T, van Laar JOEH, Oei SG

BACKGROUND: The fetal anomaly ultrasound only detects 65 to 81 % of the patients with congenital heart disease, making it the most common structural fetal anomaly of which a significant part is missed during prenatal life. Therefore, we need a reliable non-invasive diagnostic method which improves the predictive value for congenital heart diseases early in pregnancy. Fetal electrocardiography could be this desired diagnostic method. There are multiple technical challenges to overcome in the conduction of the fetal electrocardiogram. In addition, interpretation is difficult due to the organisation of the fetal circulation in utero. We want to establish the normal ranges and values of the fetal electrocardiogram parameters in healthy fetuses of 18 to 24 weeks of gestation.
METHODS/DESIGN: Women with an uneventful singleton pregnancy between 18 and 24 weeks of gestation are asked to participate in this prospective cohort study. A certified and experienced sonographist performs the fetal anomaly scan. Subsequently, a fetal electrocardiogram recording is performed using dedicated signal processing methods. Measurements are performed at two institutes. We will include 300 participants to determine the normal values and 95 % confidence intervals of the fetal electrocardiogram parameters in a healthy fetus. We will evaluate the fetal heart rate, segment intervals, normalised amplitude and the fetal heart axis. Three months postpartum, we will evaluate if a newborn is healthy through a questionnaire.
DISCUSSION: Fetal electrocardiography could be a promising tool in the screening program for congenital heart diseases. The electrocardiogram is a depiction of the intimate relationship between the cardiac nerve conduction pathways and the structural morphology of the fetal heart, and therefore particularly suitable for the detection of secondary effects due to a congenital heart disease (hypotrophy, hypertrophy and conduction interruption).

PMID: 27531050 [PubMed - indexed for MEDLINE]

Related Articles

Usefulness of stroke volume monitoring during upright ramp incremental cycle exercise in young patients with Fontan circulation.

Int J Cardiol. 2017 Jan 15;227:625-630

Authors: Legendre A, Guillot A, Ladouceur M, Bonnet D

BACKGROUND: Aerobic capacity (VO2 max) of patients with Fontan circulation (FC) is lowest within patients with congenital heart disease. The reasons have not been completely elucidated.
METHODS: Twenty five young patients with non-failing FC underwent a cardiopulmonary test during an upright ramp cycling. By using a signal morphology impedance cardiography device (physioflow®), stroke volume (SV) was evaluated along with effort. The results were compared with paired healthy controls.
RESULTS: FC patients had lower VO2 max (24 vs 32ml/Kg/min) and maximal cardiac index (CI) (6.4 vs 9.9l/min/m2) than controls, due to impaired maximal SV (42 vs 54ml/m2) and maximal Heart Rate (HR) (154 vs 184/min) (p<0.001). No correlation between SV and HR at peak was found. At ventilatory threshold, SV continued to rise in a part of FC patients. Other FC patients showed an almost a "plateau" as in controls. The more maximal CI was impaired, the more was maximal arterio-venous difference (r=-0.6, p=0.001). Compared to controls, stroke work was lower in FC patients (p<0.01) even though maximal vascular resistance was higher in them (p<0.001).
CONCLUSION: Impaired SV and chronotropic incompetence are both independently responsible for impaired CI at peak. The increase in arteriovenous difference appeared to be an adaptive response. As the stroke work was low among FC patients, high systemic vascular resistance does not appear to be the cause of SV impairment but rather a consequence. SV monitoring at effort evidences heterogeneous SV profiles among FC patients that could be considered for the management of patients.

PMID: 27810293 [PubMed - indexed for MEDLINE]

Related Articles

Small, unrepaired ventricular septal defects reveal poor exercise capacity compared with healthy peers: A prospective, cohort study.

Int J Cardiol. 2017 Jan 15;227:631-634

Authors: Maagaard M, Heiberg J, Hjortdal VE

BACKGROUND: Small ventricular septal defects (VSDs) are considered to be without hemodynamic influence and most remain unrepaired. However, studies recently described late cardiac adverse consequences that could potentially affect functional capacity. Yet, this has never been assessed in adulthood. Therefore, the aim was to determine peak exercise capacity in adults with small VSDs compared with healthy, matched controls.
METHODS: In a prospective, cohort study we included patients with unrepaired VSDs and healthy controls, (age 18 to 40years). Functional capacity was determined through incremental bicycle tests and gas exchange was measured breath-by-breath with Jaeger MasterScreen CPX®. Primary endpoint was peak oxygen uptake, while secondary endpoints were anaerobic threshold and health-related quality-of-life.
RESULTS: In total, 34 VSD patients (age 26.5±6years) and 28 controls (age 26.9±5years) were included. There were no differences between groups in demographic characteristics or habitual exercise levels. At peak exercise, patients reached lower peak oxygen uptake, 36.2±9ml/kg/min, compared with controls, 43.8±6ml/kg/min (p=0.002) along with lower maximal workload; patients 3.2±1 watt/kg and controls 3.8±1 watt/kg (p=0.001). Aerobic capacity was also poorer in patients, 24.5±8ml/kg/min compared with controls, 31.2±7ml/kg/min (p=0.005). Lastly, patients had lower health-related quality-of-life in terms of physical (p=0.017) and social functioning (p=0.003) compared with controls. In the patient group physical functioning was directly correlated to the impaired peak oxygen uptake (r=0.473, p=0.005).
CONCLUSION: We demonstrated reduced subjective and objective functional capacity in small, unrepaired VSDs compared with controls. Furthermore, a correlation was seen between the impaired peak exercise capacity and lower self-estimated physical health.

PMID: 27810297 [PubMed - indexed for MEDLINE]

Related Articles

Ventricular function and ventriculo-arterial coupling after palliation of hypoplastic left heart syndrome: A comparative study with Fontan patients with LV morphology.

Int J Cardiol. 2017 Jan 15;227:691-697

Authors: Logoteta J, Ruppel C, Hansen JH, Fischer G, Becker K, Kramer HH, Uebing A

BACKGROUND: Conceptually the right ventricle (RV) is less suitable to support the Fontan circulation than the left (LV). After palliation of hypoplastic left heart syndrome (HLHS) involving aortic reconstruction during the Norwood procedure the RV is exposed to abnormal afterload. We studied ventricular function and ventriculo-arterial coupling in HLHS patients (RV) and Fontan patients with single LV morphology that did (LV+N) and did not (LV-N) undergo Norwood-type aortic reconstruction.
METHODS: Eighty patients (55 RV, 8 LV+N, 17 LV- N) were simultaneously studied with the conductance-catheter and echocardiography 4.8 (0.9-22.9)years after Fontan completion.
RESULTS: Ejection fraction (EF) was lowest in the HLHS group (RV 60.9±11.0 vs. LV+N 68.4±10.5 vs. LV-N 69.7±8.0, P=0.003) whereas end systolic elastance (Ees), i.e. ventricular contractility, and end diastolic stiffness (Eed) were highest (Ees: RV 3.38±2.2 vs. LV+N 2.3.±13.8 vs. LV-N 1.92±1.37mmHg/ml, P=0.02; Eed: RV 0.59±0.36 vs. LV+N 0.48±0.29 vs. LV-N 0.32±0.17mmHg/ml, P<0.02). Arterial elastance, a measure of afterload, was highest in HLHS patients and correlated positively with Ees and Eed and inversely with EF in the study cohort. Only long axis function analysis suggested superior ventricular function in HLHS patients whereas all other echocardiographic measures did not reveal any group differences.
CONCLUSION: Ventricular contractility of the RV of HLHS patients is higher than that of the ventricle of Fontan patients with LV morphology. This likely reflects a physiological response to higher arterial elastance resulting from aortic arch reconstruction. Increased arterial elastance negatively impacts diastolic stiffness, which is higher in the systemic RV than LV.

PMID: 27816303 [PubMed - indexed for MEDLINE]

Related Articles

Bicuspid aortic valve outcomes.

Cardiol Young. 2017 Apr;27(3):518-529

Authors: Rodrigues I, Agapito AF, de Sousa L, Oliveira JA, Branco LM, Galrinho A, Abreu J, Timóteo AT, Rosa SA, Ferreira RC

BACKGROUND: Bicuspid aortic valve is the most common CHD. Its association with early valvular dysfunction, endocarditis, thoracic aorta dilatation, and aortic dissection is well established.
OBJECTIVE: The aim of this study was to assess the incidence and predictors of cardiac events in adults with bicuspid aortic valve.
METHODS: We carried out a retrospective analysis of cardiac outcomes in ambulatory adults with bicuspid aortic valve followed-up in a tertiary hospital centre. Outcomes were defined as follows: interventional - intervention on the aortic valve or thoracic aorta; medical - death, aortic dissection, aortic valve endocarditis, congestive heart failure, arrhythmias, or ischaemic heart disease requiring hospital admission; and a composite end point of both. Kaplan-Meier curves were generated to determine event rates, and predictors of cardiac events were determined by multivariate analysis.
RESULTS: A total of 227 patients were followed-up over 13±9 years; 29% of patients developed severe aortic valve dysfunction and 12.3% reached ascending thoracic aorta dimensions above 45 mm. At least one cardiac outcome occurred in 38.8% of patients, with an incidence rate at 20 years of follow-up of 47±4%; 33% of patients were submitted to an aortic valve or thoracic aorta intervention. Survival 20 years after diagnosis was 94±2%. Independent predictors of the composite end point were baseline moderate-severe aortic valve dysfunction (hazard ratio, 3.19; 95% confidence interval, 1.35-7.54; p<0.01) and aortic valve leaflets calcification (hazard ratio, 4.72; 95% confidence interval, 1.91-11.64; p<0.005).
CONCLUSIONS: In this study of bicuspid aortic valve, the long-term survival was excellent but with occurrence of frequent cardiovascular events. Baseline aortic valve calcification and dysfunction were the only independent predictors of events.

PMID: 27938448 [PubMed - indexed for MEDLINE]