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Large-Deformation Image Registration of CT-TEE for Surgical Navigation of Congenital Heart Disease.

Comput Math Methods Med. 2018;2018:4687376

Authors: Gou S, Chen L, Gu Y, Huang L, Huang M, Zhuang J

The surgical treatment of congenital heart disease requires navigational assistance with transesophageal echocardiography (TEE); however, TEE images are often difficult to interpret and provide very limited anatomical information. Registering preoperative CT images to intraoperative TEE images provides surgeons with richer and more useful anatomical information. Yet, CT and TEE images differ substantially in terms of scale and geometry. In the present research, we propose a novel method for the registration of CT and TEE images for navigation during surgical repair of large defects in patients with congenital heart disease. Valve data was used for the coarse registration to determine the basic location. This was followed by the use of an enhanced probability model map to overcome gray-level differences between the two imaging modalities. Finally, the rapid optimization of mutual information was achieved by migrating parameters. This method was tested on a dataset of 240 images from 12 infant, children (≤ 3 years old), and adult patients with congenital heart disease. Compared to the "bronze standard" registration, the proposed method was more accurate with an average Dice coefficient of 0.91 and an average root mean square of target registration error of 1.2655 mm.

PMID: 30154912 [PubMed - in process]

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Variable cardiovascular phenotypes associated with SMAD2 pathogenic variants.

Hum Mutat. 2018 Aug 29;:

Authors: Granadillo JL, Chung WK, Hecht L, Corsten-Janssen N, Wegner D, Bijvank SWAN, Toler TL, Pineda-Alvarez DE, Douglas G, Murphy JJ, Shimony J, Shinawi M

SMAD2 is a downstream effector in the TGF-β signaling pathway, which is important for pattern formation and tissue differentiation. Pathogenic variants in SMAD2 have been reported in association with arterial aneurysms and dissections and in large cohorts of subjects with complex congenital heart disease (CHD). We used whole exome sequencing (WES) to investigate the molecular cause of CHD and other congenital anomalies in three probands and of an arterial aneurysm in an additional patient. Patient 1 and 2 presented with complex CHD, developmental delay, seizures, dysmorphic features, short stature and poor weight gain. Patient 3 was a fetus with complex CHD and heterotaxy. The fourth patient is an adult female with aortic root aneurysm and physical features suggestive of a connective tissue disorder. WES identified pathogenic truncating variants, a splice variant, and a predicted deleterious missense variant in SMAD2. We compare the phenotypes and genotypes in our patients with previously reported cases. Our data suggest two distinct phenotypes associated with pathogenic variants in SMAD2: complex CHD with or without laterality defects and other congenital anomalies, and a late-onset vascular phenotype characterized by arterial aneurysms with connective tissue abnormalities. This article is protected by copyright. All rights reserved.

PMID: 30157302 [PubMed - as supplied by publisher]

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Effectiveness of fetal cardiac screening for congenital heart disease using a combination of the four-chamber view and three-vessel view during the second trimester scan.

J Obstet Gynaecol Res. 2018 Jan;44(1):49-53

Authors: Itsukaichi M, Serikawa T, Yoshihara K, Suzuki H, Haino K, Yamaguchi M, Enomoto T, Niigata Fetal Cardiac Screening Study Group, Takakuwa K

AIM: We aimed to assess the accuracy and effectiveness of fetal cardiac screening for congenital heart disease (CHD) during the second trimester by general obstetricians in a non-selected population.
METHODS: In this multicenter, prospective cohort study of fetal cardiac screening, four-chamber and three-vessel views were recorded by obstetricians at 18-21 gestational weeks (GW). A total of 3005 fetuses that were scheduled for delivery at our institution were included.
RESULTS: Thirty-seven newborns were born with CHD (1.2%). On excluding 23 cases of ventricular septal defects, the prenatal detection rate of CHD was 42.8%. Although six cases (75.0%) of severe structural abnormality were diagnosed prenatally, the prenatal detection rate of valvular abnormalities was 0%.
CONCLUSION: One-point ultrasound screening of the fetal heart using a combination of four-chamber and three-vessel views at 18-21 GW by general obstetricians in a non-selected population may be useful for detecting severe structural abnormalities but not valvular abnormalities. However, this limitation may be improved by conducting another fetal cardiac screening at approximately 30 GW along with the routine use of color Doppler.

PMID: 29094487 [PubMed - indexed for MEDLINE]

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Preserved Myocardial Deformation after Successful Coarctation Repair: A CMR Feature-Tracking Study.

Pediatr Cardiol. 2018 Mar;39(3):555-564

Authors: Dijkema EJ, Slieker MG, Breur JMPJ, Leiner T, Grotenhuis HB

Arterial vasculopathy and residual aortic obstruction can lead to left ventricular (LV) dysfunction in patients with coarctation of the aorta (CoA) related to adverse ventriculo-arterial coupling. This study aimed to investigate potential differences in LV myocardial deformation indices between repaired CoA patients and healthy controls. Twenty-two CoA patients (age 30 ± 10.6 years) after surgical repair (n = 12) or balloon angioplasty (BA) (n = 10) without residual stenosis, between 3 months and 16 years of age with > 10 years follow-up were compared to 22 healthy age- and gender-matched controls (age 30 ± 3.8 years). Cardiac magnetic resonance feature tracking (CMR-FT) was used for LV longitudinal-, circumferential-, and rotational deformation indices. Global systolic LV function was preserved in CoA patients (LV ejection fraction 58 ± 4.8 vs. 60 ± 6.8%, p = 0.56) when compared to controls, with normal LV dimensions and mass (p > 0.05). Twelve CoA patients (55%) were hypertensive, of whom 4 were on anti-hypertensive medication. LV global longitudinal strain was preserved in the four-chamber (- 18 ± 4.4 vs. - 16 ± 4.7%, p = 0.06) and two-chamber (- 22 ± 5.1 vs. - 20 ± 6.0%, p = 0.22) orientations in CoA patients. Global circumferential strain was preserved at basal (- 29 ± 4.1 vs. - 28 ± 4.8%, p = 0.43), mid-ventricular (- 27 ± 4.2 vs. - 25 ± 3.0%, p = 0.09), and apical levels (- 35 ± 7.8 vs. - 32 ± 34.9%, p = 0.32). No differences were found in global torsion (2.4 ± 1.3° vs. 2.0 ± 1.4°/cm, p = 0.28), twist (14 ± 5.8° vs. 12 ± 6.3°, p = 0.34), and recoil rate (- 17 ± 9.7° vs. - 17 ± 7.1°/cm s, p = 0.97). Analysis of intra-observer variability demonstrated good reproducibility for all CMR deformation indices. Global and rotational myocardial deformation indices are preserved in CoA patients long-term after repair without residual stenosis, despite a high incidence of hypertension.

PMID: 29209744 [PubMed - indexed for MEDLINE]

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Anatomical Repair Conversion After Bidirectional Cavopulmonary Shunt for Complex Cardiac Anomalies: Palliation is Not a One-Way Path.

Pediatr Cardiol. 2018 Mar;39(3):604-609

Authors: Chen Q, Li S, Hua Z, Zhang H, Yang K, Gao H, Ma K, Zhang S, Qi L

Complex cardiac anomalies are sometimes channeled toward Fontan palliation for various reasons. Nevertheless, anatomical repair after bidirectional cavopulmonary shunt may be another option with theoretical benefits. In this study, we report our experience with anatomical repair conversion in challenging patients who had been palliated with bidirectional cavopulmonary shunt. Retrospective review was conducted in patients who underwent anatomical repair conversion from prior bidirectional cavopulmonary shunt palliation between January 2008 and March 2016. Patients who underwent a planned staged 1½-ventricular repair were excluded. Twenty-three patients underwent anatomical repair conversion at a median age of 6.5 years (range 2.7-20.0 years). The interval time between palliation and conversion was 4.6 ± 2.4 years (range 0.9-12.4). Indications for conversion were high-risk Fontan candidates (n = 11) and preference for biventricular anatomy (n = 12). In eight of the patients, bidirectional cavopulmonary shunts were taken down and superior vena cava was reconnected to the right atrium with Gore-Tex tube or bovine jugular venous tube. Mean cardiopulmonary bypass and aortic cross-clamp times were 225.6 ± 107.0 and 138.3 ± 76.6 min, respectively. After a mean follow-up of 2.7 ± 2.2 years, there was no mortality and reoperation. No patients presented sinoatrial node dysfunction and superior venous cave stenosis. All the patients were in the New York Heart Association functional class I or II. Patients with previous bidirectional cavopulmonary shunt should be re-evaluated before completion of Fontan and, if cardiac anatomy allows, anatomical repair conversion may be considered, especially in patients with high-risk Fontan completion. Initial bidirectional cavopulmonary shunt palliation should not be considered as a one-way path to Fontan. Although technically challenging, early- and mid-term clinical results of anatomical repair conversion were satisfactory.

PMID: 29297105 [PubMed - indexed for MEDLINE]

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Mid-term Outcome of 100 Consecutive Ross Procedures: Excellent Survival, But Yet to Be a Cure.

Pediatr Cardiol. 2018 Mar;39(3):595-603

Authors: Zimmermann C, Attenhofer Jost C, Prêtre R, Mueller C, Greutmann M, Seifert B, Valsangiacomo Büchel E, Kretschmar O, Dave HH, Weber R

The Ross procedure offers excellent short-term outcome but the long-term durability is under debate. Reinterventions and follow-up of 100 consecutive patients undergoing Ross Procedure at our centre (1993-2011) were analysed. Follow-up was available for 96 patients (97%) with a median duration of 5.3 (0.1-17.1) years. Median age of the patient cohort was 15.2 (0.04-58.4) years with 76 males. 93% had underlying congenital aortic stenosis. Root replacement technique was applied in all. The most common valved conduits used for reconstruction of the right ventricular outflow tract were homografts (66 patients) and bovine jugular vein (ContegraR) graft (31 patients). Additional procedures included Ross-Konno procedure (14%), resection of subaortic stenosis/myectomy (11%) and reduction plasty of the ascending aorta (25%). One patient died within the first 30 days (1%). Late deaths occurred in 4 patients (4%) 0.5-4.5 years postoperatively: causes included pulmonary hypertension due to endocardial fibroelastosis (2), subarachnoid haemorrhage (1) and sudden cardiac death (1). Five-year survival was 93.6 (95% CI 88.1-99.1)%. Moderate or severe aortic (autograft) regurgitation needing reoperation occurred in 8 patients with a 5-year freedom from autograft reoperation of 98.5 (95.6-100)%. Five-year freedom from reintervention (surgery or catheter based) on the right ventricular outflow tract conduit was 91.5 (85.5-96.5)%. Univariate predictors of this reinterventions were smaller graft size (p = 0.03) and use of a ContegraR graft (p = 0.04). Ross procedure can be performed with low mortality and good survival in the long term. Most of the reinterventions are related to the neo-right ventricular outflow tract and may be partly attributed to the lack of growth. While the Ross Procedure remains an invaluable option for aortic valve disease in children, new solutions for the neo-pulmonary valve as well as for the less often occurring problems on the autograft are needed.

PMID: 29327146 [PubMed - indexed for MEDLINE]

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Thromboprophylaxis in Adults With Atrio-Pulmonary Fontan.

World J Pediatr Congenit Heart Surg. 2018 Sep;9(5):504-508

Authors: Small AJ, Aboulhosn JA, Lluri G

BACKGROUND: Although aspirin has been compared to warfarin for thromboembolic prophylaxis in the general Fontan population, little is known about the optimal preventative strategy for the atriopulmonary right atrium-pulmonary artery [RA-PA]) Fontan particularly.
METHODS: A retrospective cohort study was performed including adult patients identified in the Ahmanson/UCLA Adult Congenital Heart Disease Center database with a history of RA-PA Fontan and use of either aspirin or warfarin as most recent primary prophylaxis against thromboembolism. Primary outcome was incident thromboembolism, defined as space-occupying lesion on imaging consistent with thrombus within the Fontan or pulmonary arterial circuit. Secondary outcomes were death, transplantation, Fontan conversion, and bleeding requiring either transfusion or invasive intervention. Follow-up was terminated upon achievement of a primary outcome or achievement of a secondary outcome other than bleeding. Kaplan-Meier analysis of freedom from thrombosis was performed.
RESULTS: Twenty-six patients met inclusion criteria. Thirteen (50%) received aspirin as most recent primary prophylaxis and 13 (50%) received warfarin. Tricuspid atresia was the most common underlying diagnosis (42%), followed by double-inlet left ventricle (38%). Median age at Fontan operation was 8.2 years; median age at prophylaxis initiation was 25.9 years. After six years, the aspirin group had 50% ± 35% freedom from thrombosis and the warfarin group 92% ± 8% ( P = .15). Incidences of secondary outcomes were not significantly different between the groups.
CONCLUSION: In this cohort of long-term Fontan survivors with RA-PA Fontan, the risk of thromboembolic complications is high, especially in those taking aspirin rather than warfarin. Larger studies are needed to confirm these findings.

PMID: 30157726 [PubMed - in process]

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Chromatin remodelling and epigenetic state regulation by non-coding RNAs in the diseased heart.

Noncoding RNA Res. 2018 Mar;3(1):20-28

Authors: De Majo F, Calore M

Epigenetics refers to all the changes in phenotype and gene expression which are not due to alterations in the DNA sequence. These mechanisms have a pivotal role not only in the development but also in the maintenance during adulthood of a physiological phenotype of the heart. Because of the crucial role of epigenetic modifications, their alteration can lead to the arise of pathological conditions. Heart failure affects an estimated 23 million people worldwide and leads to substantial numbers of hospitalizations and health care costs: ischemic heart disease, hypertension, rheumatic fever and other valve diseases, cardiomyopathy, cardiopulmonary disease, congenital heart disease and other factors may all lead to heart failure, either alone or in concert with other risk factors. Epigenetic alterations have recently been included among these risk factors as they can affect gene expression in response to external stimuli. In this review, we provide an overview of all the major classes of chromatin remodellers, providing examples of how their disregulation in the adult heart alters specific gene programs with subsequent development of major cardiomyopathies. Understanding the functional significance of the different epigenetic marks as points of genetic control may be useful for developing promising future therapeutic tools.

PMID: 30159436 [PubMed]

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Surveillance Testing and Preventive Care After Fontan Operation: A Multi-Institutional Survey.

Pediatr Cardiol. 2018 Aug 29;:

Authors: Di Maria MV, Brown DW, Cetta F, Ginde S, Goldberg D, Menon SC, Phelps HM, Rychik J, Schumacher KR, Thrush P, Veldtman G, Wright G, Younoszai AK

More children with single ventricle heart disease are surviving after Fontan surgery. This circulation has pervasive effects on multiple organ systems and has unique modes of failure. Many centers have created multidisciplinary programs to care for these patients. Our aim was to survey such programs to better understand current approaches to care. We hypothesized that significant variability in surveillance testing strategy would be present. Eleven academic institutions with established Fontan care programs performing a combined estimated 300 Fontan surgeries per year, with a total population of 1500-2000 Fontan patients, were surveyed using a REDCap survey regarding surveillance testing and basic practice philosophies. Fontan care programs were structured both as consultative services (64%) and as the primary clinical team (9%). Electrocardiograms (73%) and echocardiograms (64%) were most commonly obtained annually. Serum studies, including complete blood count (73%), complete metabolic panel (73%), and Brain-type natriuretic peptide (54%), were most commonly obtained annually. Hepatic testing consisted of liver ultrasound in most centers, obtained biennially (45%) or > every 2 years (45%). Liver biopsy was not routinely recommended (54%). Neurodevelopmental outcomes were assessed at most institutions (54%), with a median frequency of every 3-4 years. There is considerable variability in the surveillance testing regimen and management strategy after a Fontan procedure at surveyed programs. There is an urgent need for surveillance guidelines to reduce variability, define quality metrics, streamline collaborative practice, and prospective research to better understand the complex adaptations of the body to Fontan physiology.

PMID: 30159585 [PubMed - as supplied by publisher]

Related Articles

Loss of RNA expression and allele-specific expression associated with congenital heart disease.

Nat Commun. 2016 09 27;7:12824

Authors: McKean DM, Homsy J, Wakimoto H, Patel N, Gorham J, DePalma SR, Ware JS, Zaidi S, Ma W, Patel N, Lifton RP, Chung WK, Kim R, Shen Y, Brueckner M, Goldmuntz E, Sharp AJ, Seidman CE, Gelb BD, Seidman JG

Congenital heart disease (CHD), a prevalent birth defect occurring in 1% of newborns, likely results from aberrant expression of cardiac developmental genes. Mutations in a variety of cardiac transcription factors, developmental signalling molecules and molecules that modify chromatin cause at least 20% of disease, but most CHD remains unexplained. We employ RNAseq analyses to assess allele-specific expression (ASE) and biallelic loss-of-expression (LOE) in 172 tissue samples from 144 surgically repaired CHD subjects. Here we show that only 5% of known imprinted genes with paternal allele silencing are monoallelic versus 56% with paternal allele expression-this cardiac-specific phenomenon seems unrelated to CHD. Further, compared with control subjects, CHD subjects have a significant burden of both LOE genes and ASE events associated with altered gene expression. These studies identify FGFBP2, LBH, RBFOX2, SGSM1 and ZBTB16 as candidate CHD genes because of significantly altered transcriptional expression.

PMID: 27670201 [PubMed - indexed for MEDLINE]