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Can Ultrasound in Early Gestation Improve Visualization of Fetal Cardiac Structures in Obese Pregnant Women?

J Ultrasound Med. 2019 Aug;38(8):2057-2063

Authors: Majeed A, Abuhamad A, Romary L, Sinkovskaya E

OBJECTIVES: To determine whether ultrasound (US) imaging of obese pregnant women in early gestation improves fetal cardiac visualization.
METHODS: We report a prospective longitudinal trial comparing late first- and early second-trimester US to traditional second-trimester US for fetal cardiac screening in maternal obesity. All study participants received US for fetal cardiac screening at a gestational age of 13 weeks to 15 weeks 6 days using a transvaginal or transabdominal approach (UST1). All patients also underwent a traditional transabdominal examination at 20 to 22 weeks (UST2). If UST2 failed to complete the cardiac visualization, a follow up examination (second UST2) was performed 2 to 4 weeks later. Imaging was considered complete if the visceral situs, 4 chambers, outflow tracts, and 3 vessels were visualized. The completion rates between UST1 and UST2 were the primary outcomes. A power analysis (85%) and sample size calculation (n = 145) were performed.
RESULTS: A total of 152 pregnancies met study criteria. Completion rates of cardiac screening were 77% for UST1 and 70% for UST2 (P = .143). This comparison reached statistical significance in patients with a body mass index of greater than 40 kg/m2 (UST1 [69%] versus UST2 [38%]; P = .001). Sixty-two percent of patients with a body mass index of greater than 40 kg/m2 required second UST2. The highest fetal cardiac screening completion rate was achieved when UST1 was combined with UST2 (96.1%). In 1 fetus, congenital heart disease was detected at UST1 and later confirmed.
CONCLUSIONS: This study represents the largest prospective trial assessing early-gestation US for fetal cardiac screening in the setting of maternal obesity. In obese pregnancies, the addition of early-gestation US to the 20- to 22-week US substantially improves the visualization of fetal cardiac anatomy.

PMID: 30561065 [PubMed - indexed for MEDLINE]

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Long-term Outcomes of Tetralogy of Fallot: A Study From the Pediatric Cardiac Care Consortium.

JAMA Cardiol. 2019 01 01;4(1):34-41

Authors: Smith CA, McCracken C, Thomas AS, Spector LG, St Louis JD, Oster ME, Moller JH, Kochilas L

Importance: Tetralogy of Fallot (TOF) is a surgically repairable form of cyanotic congenital heart disease. Multicenter data for long-term survival following repair are sparse.
Objective: To evaluate the long-term transplant-free survival of TOF by surgical strategy adjusted for era and patient characteristics.
Design, Setting, and Participants: Retrospective cohort study enriched with data from the National Death Index and the Organ Procurement and Transplantation Network through 2014. Multicenter cohort from the Pediatric Cardiac Care Consortium (PCCC), a large, US-based clinical registry for interventions for congenital heart disease. The cohort included patients with adequate identifiers for linkage with the National Death Index and the Organ Procurement and Transplantation Network who were enrolled in the PCCC registry between 1982 and 2003 and survived surgical repair of simple TOF. Data were analyzed between September 2015 and April 2018.
Exposures: We examined patient-associated and surgery-associated risk factors affecting survival.
Main Outcomes and Measures: We analyzed the transplant-free survival during early (<6 years) and late (≥6 years) phase after TOF surgical repair.
Results: Of the 3283 patients who survived repair for simple TOF and met the study's inclusion criteria, 56.4% were male and 43.6% were female. Twenty-five-year survival following TOF repair was 94.5%. Multivariable analysis demonstrated increased risk of early mortality with staged repair (HR, 2.68; 95% CI, 1.59-4.49) and non-valve-sparing operation (HR, 3.76; 95% CI, 1.53-9.19). Presence of a genetic abnormality was associated with increased risk of death both in the early (HR, 3.64; 95% CI, 2.05-6.47) and late postoperative phase (HR, 4.41; 95% CI, 2.62-7.44).
Conclusions and Relevance: Long-term survival after simple TOF repair is excellent. Staged repair and non-valve-sparing operations were negatively associated with survival in the early postrepair phase but not the late postrepair phase. These data are important for patients with repaired TOF and their caretakers and may guide surgical strategies for optimizing the long-term outcomes of this population.

PMID: 30566184 [PubMed - indexed for MEDLINE]

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Left Atrial Wall Trauma Causing Intracardiac Thrombus After Device Closure of Patent Foramen Ovale.

Circ Cardiovasc Imaging. 2019 03;12(3):e008720

Authors: Small AJ, Denton KL, Aboulhosn JA

PMID: 30813771 [PubMed - indexed for MEDLINE]

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A new vessel segmentation algorithm for robust blood flow quantification from two-dimensional phase-contrast magnetic resonance images.

Clin Physiol Funct Imaging. 2019 Sep;39(5):327-338

Authors: Bidhult S, Hedström E, Carlsson M, Töger J, Steding-Ehrenborg K, Arheden H, Aletras AH, Heiberg E

Blood flow measurements in the ascending aorta and pulmonary artery from phase-contrast magnetic resonance images require accurate time-resolved vessel segmentation over the cardiac cycle. Current semi-automatic segmentation methods often involve time-consuming manual correction, relying on user experience for accurate results. The purpose of this study was to develop a semi-automatic vessel segmentation algorithm with shape constraints based on manual vessel delineations for robust segmentation of the ascending aorta and pulmonary artery, to evaluate the proposed method in healthy volunteers and patients with heart failure and congenital heart disease, to validate the method in a pulsatile flow phantom experiment, and to make the method freely available for research purposes. Algorithm shape constraints were extracted from manual reference delineations of the ascending aorta (n = 20) and pulmonary artery (n = 20) and were included in a semi-automatic segmentation method only requiring manual delineation in one image. Bias and variability (bias ± SD) for flow volume of the proposed algorithm versus manual reference delineations were 0·0 ± 1·9 ml in the ascending aorta (n = 151; seven healthy volunteers; 144 heart failure patients) and -1·7 ± 2·9 ml in the pulmonary artery (n = 40; 25 healthy volunteers; 15 patients with atrial septal defect). Interobserver bias and variability were lower (P = 0·008) for the proposed semi-automatic method (-0·1 ± 0·9 ml) compared to manual reference delineations (1·5 ± 5·1 ml). Phantom validation showed good agreement between the proposed method and timer-and-beaker flow volumes (0·4 ± 2·7 ml). In conclusion, the proposed semi-automatic vessel segmentation algorithm can be used for efficient analysis of flow and shunt volumes in the aorta and pulmonary artery.

PMID: 31102479 [PubMed - indexed for MEDLINE]

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Umbilical Cord Blood Gas in Newborns with Prenatal Diagnosis of Congenital Heart Disease: Insight into In-Utero and Delivery Hemodynamics.

Pediatr Cardiol. 2019 Dec;40(8):1575-1583

Authors: Adams AD, Aggarwal N, Iqbal SN, Tague L, Skurow-Todd K, McCarter R, Donofrio MT

The primary objective was to determine if newborns with congenital heart disease (CHD) are at a higher risk for acidosis at delivery as determined by cord blood gas analysis. The secondary objective was to determine whether specific fetal cardiac diagnosis, delivery method, or duration of labor is associated with an increased risk for acidosis. This was a retrospective study of newborns with CHD diagnosed prenatally and comparable patients without a CHD diagnosis. Study participants included 134 CHD-affected newborns and 134 controls. Median UA pH in CHD newborns was 7.22 (CI 7.2-7.4) and in controls it was 7.22 (CI 7.21-7.24), p = 0.91. There was no difference in median UA pH comparing newborns with single-ventricle CHD and two-ventricle CHD [7.23 (CI 7.2-7.26) vs. 7.22 (CI 7.22-7.24), p = 0.77], or newborns with CHD with aortic obstruction and those without aortic obstruction [7.23 (CI 7.21-7.26) vs. 7.22 (CI 7.2-7.24), p = 0.29]. After controlling for delivery method and duration of labor, CHD patients who underwent a spontaneous vaginal delivery were found to have a declining median UA pH as labor progressed. Our results show that newborns with CHD have a normal UA pH at delivery suggesting a compensated circulation in utero. Spontaneous vaginal delivery with a progressively longer duration of labor in CHD newborns was associated with lower UA pH. This suggests that fetuses with CHD may be at risk for hemodynamic instability at birth with a longer duration of labor as a potentially modifiable factor to improve outcome.

PMID: 31471626 [PubMed - indexed for MEDLINE]

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Longitudinal changes in clinical outcome measures in COL6-related dystrophies and LAMA2-related dystrophies.

Neurology. 2019 11 19;93(21):e1932-e1943

Authors: Jain MS, Meilleur K, Kim E, Norato G, Waite M, Nelson L, McGuire M, Duong T, Keller K, Lott DJ, Glanzman A, Rose K, Main M, Fiorini C, Chrismer I, Linton M, Punjabi M, Elliott J, Tounkara F, Vasavada R, Logaraj R, Winkert J, Donkervoort S, Leach M, Dastgir J, Hynan L, Nichols C, Hartnett E, Averion GM, Collins JC, Kim ES, Kokkinis A, Schindler A, Zukosky K, Fee R, Hinton V, Mohassel P, Bharucha-Goebel D, Vuillerot C, McGraw P, Barton M, Fontana J, Rutkowski A, Foley AR, Bönnemann CG

OBJECTIVE: To identify the rate of change of clinical outcome measures in children with 2 types of congenital muscular dystrophy (CMD), COL6-related dystrophies (COL6-RDs) and LAMA2-related dystrophies (LAMA2-RDs).
METHODS: Over the course of 4 years, 47 individuals (23 with COL6-RD and 24 with LAMA2-RD) 4 to 22 years of age were evaluated. Assessments included the Motor Function Measure 32 (MFM32), myometry (knee flexors and extensors, elbow flexors and extensors), goniometry (knee and elbow extension), pulmonary function tests, and quality-of-life measures. Separate linear mixed-effects models were fitted for each outcome measurement, with subject-specific random intercepts.
RESULTS: Total MFM32 scores for COL6-RDs and LAMA2-RDs decreased at a rate of 4.01 and 2.60 points, respectively, each year (p < 0.01). All muscle groups except elbow flexors for individuals with COL6-RDs decreased in strength between 1.70% (p < 0.05) and 2.55% (p < 0.01). Range-of-motion measurements decreased by 3.21° (p < 0.05) at the left elbow each year in individuals with LAMA2-RDs and 2.35° (p < 0.01) in right knee extension each year in individuals with COL6-RDs. Pulmonary function demonstrated a yearly decline in sitting forced vital capacity percent predicted of 3.03% (p < 0.01) in individuals with COL6-RDs. There was no significant change in quality-of-life measures analyzed.
CONCLUSION: Results of this study describe the rate of change of motor function as measured by the MFM32, muscle strength, range of motion, and pulmonary function in individuals with COL6-RDs and LAMA2-RDs.

PMID: 31653707 [PubMed - indexed for MEDLINE]

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mAdverse Event Rate during Inpatient Sotalol Initiation for the Management of Supraventricular and Ventricular Tachycardia in the Pediatric and Young Adult Population.

Heart Rhythm. 2020 Jan 31;:

Authors: Chandler SF, Chu E, Whitehill RD, Bevilacqua LM, Bezzerides VJ, DeWitt ES, Alexander ME, Abrams DJ, Triedman JK, Walsh EP, Mah DY

BACKGROUND: Sotalol is an important antiarrhythmic in the pediatric population. Given the risk for proarrhythmia, sotalol is initiated in inpatient settings, with adult studies as recent as 2015 supporting this practice.
OBJECTIVE: To determine the frequency of adverse events (AE) during sotalol initiation for the management of atrial, supraventricular or ventricular arrhythmias in pediatric patients.
METHODS: A retrospective cohort analysis of pediatric patients <21 years of age initiated on oral sotalol for SVT or VT at Boston Children's Hospital from January 1, 2007-July 1, 2016 was performed. The primary endpoint was an adverse event (AE) defined as significant bradycardia, new or increased ventricular arrhythmias, conduction block or corrected QT interval (QTc) prolongation resulting in dose reduction or cessation.
RESULTS: There were 190 patients who met inclusion criteria, with 110 patients (58%) < 6 months old. 115 patients (60%) had congenital heart disease (CHD). Arrhythmias for which sotalol was started included AV-reciprocating tachycardia/AV nodal reciprocating tachycardia 105 patients (55%), atrial flutter 31 patients (16%), ectopic atrial tachycardia 26 patients (14%), VT 21 patients (11%), and atrial fibrillation 7 patients (4%). The median pre-sotalol QTc was 438 milliseconds (msec) (range 348-530msec). Five patients (3%) had AEs (ages 0.1-18 yrs) including bradycardia <40 beats per minute (bpm) (n=2) and <100bpm (n=1) and QTc prolongation (n=2). All 5 patients with AEs had repaired CHD.
CONCLUSION: The incidence of AE in pediatric patients initiating sotalol for AT, SVT or VT is low (3%) with no deaths or malignant rhythms reported in this series.

PMID: 32014568 [PubMed - as supplied by publisher]

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GATA4 screening in Iranian patients of various ethnicities affected with congenital heart disease: Co-occurrence of a novel de novo translocation (5;7) and a likely pathogenic heterozygous GATA4 mutation in a family with autosomal dominant congenital heart disease.

J Clin Lab Anal. 2019 Sep;33(7):e22923

Authors: Kalayinia S, Maleki M, Rokni-Zadeh H, Changi-Ashtiani M, Ahangar H, Biglari A, Shahani T, Mahdieh N

BACKGROUND: Congenital heart disease (CHD) is the most common birth defect and a major health problem around the world. However, its exact etiology has remained unclear. Among various genetic contributing factors, GATA4 transcription factor plays a significant role in the CHD pathogenesis. In this study, GATA4 coding sequence was screened in Iranian patients of various ethnicities.
METHODS: Sixty six individuals with familial CHD referred to our center were recruited in this study. After receiving written informed consent from each individual or their parents, chromosomal analyses and GATA4 variant screening were performed. Pathogenicity of the suspected variants was evaluated using available online software tools: CADD, Mutation Taster, SIFT, and PolyPhen-2.
RESULTS: A total of twelve GATA4 variants were detected including five intronic, 2 exonic and 3 polymorphisms as well as 2 missense mutations, the c.1220C>A and c.1309G>A. Unlike the c.1220C>A, the likely pathogenic heterozygous c.1309G>A has not been previously associated with any phenotype. Here, we not only report, for the first time, a c.1309G>A-related CHD, but also report a novel de novo balanced translocation, 46,XY,t(5;7)(qter13;qter11), in the same patient which may have influenced the disease severity.
CONCLUSION: From screening GATA4 sequence in 66 Iranian patients of various ethnicities, we conclude that cytogenetic analysis and PCR-direct sequencing of different candidate genes may not be the best approach for genetic diagnosis in CHD. Applying novel approaches such as next-generation sequencing (NGS) may provide a better understating of genetic contributing factors in CHD patients for whom conventional methods could not reveal any genetic causative factor.

PMID: 31115957 [PubMed - indexed for MEDLINE]

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Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing.

Am J Med Genet A. 2019 02;179(2):295-299

Authors: Rath M, Spiegler S, Strom TM, Trenkler J, Kroisel PM, Felbor U

Grange syndrome is an autosomal recessive condition characterized by arterial occlusions and hypertension. Syndactyly, brachydactyly, bone fragility, heart defects, and learning disabilities have also been reported. Loss-of-function variants in YY1AP1 have only recently been associated with Grange syndrome. YY1AP1 encodes for the transcription coactivator yin yang 1-associated protein 1 which regulates smooth muscle cell proliferation and differentiation. We here report on three siblings with steno-occlusive arterial disorder and syndactyly in two of them. Whole exome sequencing including near-splice regions led to the identification of two intronic YY1AP1 variants which were predicted to interfere with normal splicing. Sanger sequencing demonstrated compound-heterozygosity in all affected siblings. RT-PCR analyses confirmed skipping of exon 6 on one allele and exonization of 22 bp in intron 6 on the other. This is the first report of biallelic YY1AP1 variants in noncoding regions and just the second family with multiple affected siblings. Therefore, our report further delineates the phenotypic spectrum of Grange syndrome.

PMID: 30556293 [PubMed - indexed for MEDLINE]

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Simpson-Golabi-Behmel syndrome in a 39-year-old male patient with suspected acromegaly-A case study.

Am J Med Genet A. 2019 02;179(2):322-328

Authors: Andrysiak-Mamos E, Sagan KP, Lietz-Kijak D, Kijak E, Kaźmierczak B, Pietrzyk A, Sowinska-Przepiera E, Sagan L, Syrenicz A

Simpson-Golabi-Behmel syndrome (SGBS) is a rare genetic condition and is inherited in an X-linked recessive manner. The disease is caused by a change in the nucleotide sequence of an X-linked gene encoding glypican 3, a protein belonging to the heparan-sulfate membrane proteoglycan family. SGBS case studies are almost entirely restricted to the pediatric population. Scarce literature describing SGBS course in adults may be due to both the high mortality of SGBS patients in childhood and low rate of SGBS diagnosis in adults. We present a case of a 39-year-old man with an initial diagnosis of acromegaly. Genetic tests revealed a hitherto unreported deletion in the GPC3 gene. SGBS manifestations in our patient included tall stature, dysmorphic features, and central nervous system (CNS) anatomical pathology. MRI of the head visualized abnormalities of median line structures, a feature consistent with SGBS: an unclosed craniopharyngeal canal, a sellar-suprasellar cyst, dysmorphic pituitary gland, and a cyst of the septum pellucidum. Moreover, cardiomyopathy complicated by life-threatening paroxysmal ventricular tachycardia was diagnosed. Although various cardiac anomalies are often found in SGBS, their pathogenesis is unclear and may be multifactorial. We believe that the presented case contributes to a better understanding of SGBS and may help clinicians in introducing prophylaxis and treatment for its comorbidities.

PMID: 30592149 [PubMed - indexed for MEDLINE]