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Thinking of VACTERL-H? Rule out Fanconi Anemia according to PHENOS.

Am J Med Genet A. 2016 Jun;170(6):1520-4

Authors: Alter BP, Giri N

Abstract
VACTERL-H association includes three of eight features: vertebral anomalies, anal atresia, congenital heart disease, tracheo-esophageal fistula, esophageal atresia, renal, limb anomalies, and hydrocephalus. The VACTERL-H phenotype among cases with FA is considered to be about 5%; the frequency of FA among patients with VACTERL-H is unknown. We examined 54 patients with FA in the National Cancer Institute Inherited Bone Marrow Failure Syndrome Cohort for features of VACTERL-H, including imaging studies (radiology and ultrasound). Eighteen of the fifty-four patients had three or more VACTERL-H features. The presence of VACTERL-H association in 33% of those with FA is much higher than the previous estimate of 5% (P < 0.0001). We created the acronym PHENOS (Pigmentation, small Head, small Eyes, central Nervous system (not hydrocephalus), Otology, and Short stature) which includes all major phenotypic features of FA that are not in VACTERL-H; these findings were more frequent in the patients with FA who had VACTERL-H. Identification of any components of the VACTERL-H association should lead to imaging studies, and to consideration of the diagnosis of FA, particularly if the patient has radial ray and renal anomalies, as well as many features of PHENOS. There was no association of the presence or absence of VACTERL-H with development of cancer, stem cell transplant, or survival. Early diagnosis will lead to genetic counseling and early surveillance and management of complications of FA. © 2016 Wiley Periodicals, Inc.

PMID: 27028275 [PubMed - indexed for MEDLINE]

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Healthcare utilization in chromosome 22q11.2 deletion patients with cardiac disease and low T cell counts.

Am J Med Genet A. 2016 Jun;170(6):1630-4

Authors: Sullivan KE, Burrows E, McDonald McGinn DM

Abstract
Chromosome 22q11.2 deletion manifests a highly variable phenotype. Healthcare institutions are often not optimally designed for children with multispecialty needs and a siloed approach may make it hard to understand the full healthcare utilization by these patients. This study was undertaken to understand the healthcare utilization by these patients. Records on 932 patients from a single institution were examined, anchoring on diagnosis codes and extracting costs and types of visits. Healthcare costs were high for patients and increased costs were associated with low T cells and the presence of a cardiac anomaly. The lifetime costs per individual ranged from negligible to over 20 million dollars. The greater healthcare utilization crossed nearly all types of visits. Healthcare costs are one metric of the great burden complex medical care places on patients and families. Identification of two high utilization subgroups will help to optimize care for these patients. © 2016 Wiley Periodicals, Inc.

PMID: 27061222 [PubMed - indexed for MEDLINE]

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Blood coagulation abnormalities and the usefulness of D-dimer level for detecting intracardiac thrombosis in adult Fontan patients.

Int J Cardiol. 2016 Dec 01;224:139-144

Authors: Takeuchi D, Inai K, Shinohara T, Nakanishi T, Park IS

Abstract
BACKGROUND: Coagulation abnormality is associated with a high incidence of intracardiac thrombus (ICT) and systemic thromboembolism in Fontan patients. The biomarker for detecting ICT is currently unknown.
METHODS: We retrospectively investigated the underlying coagulation abnormality and useful biomarkers to screen for ICT in adult Fontan patients. We measured various biomarkers of blood coagulation, fibrinolysis, and platelet activity in 122 Fontan patients (Fontan group: median age [P25-P75]: 27 [20-34] years) and compared them to those in 50 patients with atrial septal defect (ASD group: 31 [24-40] years).
RESULTS: Regardless of whether the patient had ICT, the Fontan group showed significantly lower levels of antithrombin III, thrombomodulin, and α2-antiplasmin; lower protein C and protein S activities; and significantly higher levels of thrombin-antithrombin complex and α2-plasmin inhibitor complex than the ASD group. Among various biomarkers, D-dimer level measured by using latex immunoassay was significantly higher in the patients with ICT (thrombus group: n=21) than in the patients without ICT (non-thrombus group: n=101). Fifteen (26%) of 57 patients on warfarin achieved prothrombin time international normalized ratios (PT-INRs) of >2. The proportion of patients with PT-INRs of >2 tended to be lower in the thrombus group than in the non-thrombus group (13% vs 31%). Persistent atrial arrhythmia and D-dimer level were significant risk factors associated with ICT formation in the multivariate analysis (persistent atrial arrhythmia: hazard ratio [HR], 6.89; 95% confidence interval [CI], 1.44-34.5; D-dimer: HR, 0.29; 95% CI, 0.13-0.50). Receiver-operating characteristic curve analysis revealed that the appropriate cutoff D-dimer level for screening for ICT was 1.8μg/mL (area under the curve, 0.94), with a negative predictive value of 95%.
CONCLUSIONS: In the adult Fontan patients, blood coagulation abnormalities existed regardless of the absence of ICT. D-dimer level may be a useful biomarker for screening for ICT in adult Fontan patients.

PMID: 27648983 [PubMed - indexed for MEDLINE]

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Impact of International Quality Improvement Collaborative on Congenital Heart Surgery in Pakistan.

Heart. 2017 Nov;103(21):1680-1686

Authors: Khan A, Abdullah A, Ahmad H, Rizvi A, Batool S, Jenkins KJ, Gauvreau K, Amanullah M, Haq A, Aslam N, Minai F, Hasan B

Abstract
BACKGROUND: The International Quality Improvement Collaborative (IQIC) was formed to reduce mortality and morbidity from congenital heart disease (CHD) surgeries in low/middle-income countries.
OBJECTIVES: We conducted this study to compare the postoperative outcomes of CHD surgeries at a centre in Pakistan before and after joining IQIC.
METHODS: The IQIC provides guidelines targeting key drivers responsible for morbidity and mortality in postoperativepatients with CHD. We focused primarily on nurse empowerment and improving the infection control strategies at our centre. Patients with CHD who underwent surgery at this site during the period 2011-2012 (pre-IQIC) were comparedwith those getting surgery in 2013-2014 (post-IQIC). Morbidity (major infections), mortality and factors associated with them were assessed.
RESULTS: There was a significant decrease in surgical site infections and bacterial sepsis in the post-IQIC versus pre-IQIC period (1% vs 30%, p=0.0001, respectively). A statistically insignificant decrease in the mortality rate was also noted in post-IQIC versus pre-IQIC period (6% vs 9%, p=0.17, respectively). Durations of ventilation and intensive care unit (ICU) and hospital stay were significantly reduced in the post-IQIC period. Age <1 year, malnutrition, low preoperative oxygen perfusion, Risk Adjustment for Congenital Heart Surgery score >3, major chromosomal anomalies, perfusion-related event, longer ventilation and ICU/hospital stay durations were associated with greater odds of morbidity and mortality.
CONCLUSION: Enrolling in the IQIC programme was associated with an improvement in the postsurgical outcomes of the CHD surgeries at our centre.

PMID: 28408415 [PubMed - indexed for MEDLINE]

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Knowledge of native valve anatomy is essential in follow-up of patients after aortic valve replacement.

Int J Cardiol. 2016 Dec 15;225:172-176

Authors: Cozijnsen L, van der Zaag-Loonen HJ, Cozijnsen MA, Braam RL, Heijmen RH, Mulder BJ

Abstract
BACKGROUND: After aortic valve replacement (AVR), bicuspid aortic valve (BAV) patients continue to be at risk of aortic complications. Therefore, knowledge of native valve anatomy is important for follow-up. We aimed to determine the extent of which the presence of BAV disease is known in a regional post-AVR population.
METHODS: The Electronical Medical Record system was used to collect all patients under follow-up after AVR. We documented their clinical data and used the operative report to determine valve phenotype; lacking reports were retrieved.
RESULTS: We identified 560 patients who underwent AVR between 1971 and 2012, with a median of 6.2years follow-up postoperatively. Mean age at surgery was 66years (SD13.2years), and 319 patients (57%) were male. In 29 cases (5%), an operative report was not available and in 85 patients (16%) the report lacked a description of valve phenotype. In 446 patients, a surgeon's description of native valve was available: 299 patients (67%) had tricuspid aortic valve, 140 (31%) BAV, and 3 (1%) quadricuspid aortic valve. In 4 patients (1%) the description was non-conclusive. In 66/140 BAV patients the surgeon's diagnosis was not reported back to the referring cardiologist, which corresponded with 12% of all 560 AVR patients. Another 21% of these 560 lacked a clear description of native valve anatomy: no report, no native valve description or an unclear valve description.
CONCLUSIONS: Native valve anatomy was not known in one-third of AVR patients under follow-up, which included almost half of the BAV patients. This lack of knowledge withholds patients from appropriate ascending aorta surveillance.

PMID: 27728860 [PubMed - indexed for MEDLINE]

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The respiratory system in pediatric chronic heart disease.

Pediatr Pulmonol. 2017 Oct 27;:

Authors: Apostolopoulou SC

Abstract
Cardiovascular disease in the pediatric population closely affects the respiratory system inducing water retention in the lungs and pulmonary edema, airway compression by cardiovascular structures, restrictive pulmonary physiology as a result of hemodynamic changes and surgical repair, susceptibility to respiratory infections, development of pulmonary hypertension, thrombosis, or hemorrhage. Chronic heart failure and congenital heart disease are characterized by various respiratory manifestations and symptoms mimicking lung disease, which are frequently difficult to diagnose and treat. Pulmonary function is multiply affected in pediatric heart disease with mostly restrictive but also obstructive and diffusion abnormalities. Patients with Fontan circulation represent a separate group with slow, passive pulmonary blood flow and distinct pathophysiology with low cardiac output heart failure, restrictive lung pattern, increased thromboembolic complications and rare conditions such as protein losing enteropathy and plastic bronchitis. Distinguishing between cardiovascular and pulmonary symptoms may be challenging in the growing population of pediatric and adult survivors of congenital heart disease and understanding of the relationship of the two systems in heart disease is crucial for the optimal management of these patients.

PMID: 29076654 [PubMed - as supplied by publisher]

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Preliminary results from a nationwide adult cardiology perspective for pulmonary hypertension: RegiStry on clInical outcoMe and sUrvival in pulmonaRy hypertension Groups (SIMURG).

Anatol J Cardiol. 2017 Oct;18(4):242-250

Authors: Kaymaz C, Mutlu B, Küçükoğlu MS, Kaya B, Akdeniz B, Kılıçkıran Avcı B, Aksakal E, Akbulut M, Atılgan Arıtürk Z, Güllülü S, Aydoğdu Taçoy G, Kayıkçıoğlu M, Nalbantgil S, Örem C, Erer HB, Yüce M, Ermiş N, Tüfekçioğlu O, Demir M, Yılmaz MB, Güngör Kaya M, Kültürsay H, Öngen Z, Tokgözoğlu L

Abstract
OBJECTIVE: The present study was designed to evaluate the characteristics of pulmonary hypertension (PH) and adult cardiology practice patterns for PH in our country.
METHODS: We evaluated preliminary survey data of 1501 patients with PH (females, 69%; age, 44.8±5.45) from 20 adult cardiology centers (AdCCs).
RESULTS: The average experience of AdCCs in diagnosing and treating patients with PH was 8.5±3.7 years. Pulmonary arterial hypertension (PAH) was the most frequent group (69%) followed by group 4 PH (19%), group 3 PH (8%), and combined pre- and post-capillary PH (4%). PAH associated with congenital heart disease (APAH-CHD) was the most frequent subgroup (47%) of PAH. Most of the patients' functional class (FC) at the time of diagnosis was III. The right heart catheterization (RHC) rate was 11.9±11.6 per month. Most frequently used vasoreactivity agent was intravenous adenosine (60%). All patients under targeted treatments were periodically for FC, six-minute walking test, and echo measures at 3-month intervals. AdCCs repeated RHC in case of clinical worsening (CW). The annual rate of hospitalization was 14.9±19.5. In-hospital use of intravenous iloprost reported from 16 AdCCs in CWs. Bosentan and ambrisentan, as monotreatment or combination treatment (CT), were noted in 845 and 28 patients, respectively, and inhaled iloprost, subcutaneous treprostinil, and intravenous epoprostenol were noted in 283, 30, and four patients, respectively. Bosentan was the first agent used for CT in all AdCCs and iloprost was the second. Routine use of antiaggregant, anticoagulant, and pneumococcal and influenza prophylaxis were restricted in only two AdCCs.
CONCLUSION: Our nationwide data illustrate the current status of PH regarding clinical characteristics and practice patterns.

PMID: 29076824 [PubMed - in process]

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A Big Five Personality Typology in Adolescents with Congenital Heart Disease: Prospective Associations with Psychosocial Functioning and Perceived Health.

Int J Behav Med. 2016 Jun;23(3):310-318

Authors: Rassart J, Luyckx K, Goossens E, Oris L, Apers S, Moons P, i-DETACH investigators

Abstract
PURPOSE: This study aimed (1) to identify different personality types in adolescents with congenital heart disease (CHD), and (2) to relate these personality types to psychosocial functioning and several domains of perceived health, both concurrently and prospectively. Hence, this study aimed to expand previous research by adopting a person-centered approach to personality through focusing on personality types rather than singular traits.
METHOD: Adolescents with CHD were selected from the database of pediatric and congenital cardiology of the University Hospitals Leuven. A total of 366 adolescents (15-20 years old) with CHD participated at time 1. These adolescents completed questionnaires on the Big Five personality traits, depressive symptoms, loneliness, and generic and disease-specific domains of health. Nine months later, 313 patients again completed questionnaires.
RESULTS: Cluster analysis at time 1 revealed three personality types: resilients (37 %), undercontrollers (34 %), and overcontrollers (29 %), closely resembling typologies obtained in previous community samples. Resilients, under-, and overcontrollers did not differ in terms of disease complexity, but differed on depressive symptoms, loneliness, and generic and disease-specific domains of perceived health at both time-points. Overall, resilients showed the most favorable outcomes and overcontrollers the poorest, with undercontrollers scoring in-between.
CONCLUSION: Personality assessment can help clinicians in identifying adolescents at risk for physical and psychosocial difficulties later in time. In this study, both over- and undercontrollers were identified as high-risk groups. Our findings show that both personality traits and types should be taken into account to obtain a detailed view on the associations between personality and health.

PMID: 26911460 [PubMed - indexed for MEDLINE]

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Enhancing Literacy in Cardiovascular Genetics: A Scientific Statement From the American Heart Association.

Circ Cardiovasc Genet. 2016 Oct;9(5):448-467

Authors: Mital S, Musunuru K, Garg V, Russell MW, Lanfear DE, Gupta RM, Hickey KT, Ackerman MJ, Perez MV, Roden DM, Woo D, Fox CS, Ware S, American Heart Association Council on Functional Genomics and Translational Biology; Council on Cardiovascular Disease in the Young; Council on Cardiovascular and Stroke Nursing; Stroke Council; Council on Lifestyle and Cardiometabolic Health; and Council on Quality of Care and Outcomes Research

Abstract
Advances in genomics are enhancing our understanding of the genetic basis of cardiovascular diseases, both congenital and acquired, and stroke. These advances include finding genes that cause or increase the risk for childhood and adult-onset diseases, finding genes that influence how patients respond to medications, and the development of genetics-guided therapies for diseases. However, the ability of cardiovascular and stroke clinicians to fully understand and apply this knowledge to the care of their patients has lagged. This statement addresses what the specialist caring for patients with cardiovascular diseases and stroke should know about genetics; how they can gain this knowledge; how they can keep up-to-date with advances in genetics, genomics, and pharmacogenetics; and how they can apply this knowledge to improve the care of patients and families with cardiovascular diseases and stroke.

PMID: 27672144 [PubMed - indexed for MEDLINE]

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High prevalence of fatigue in adults with a 22q11.2 deletion syndrome.

Am J Med Genet A. 2017 Apr;173(4):858-867

Authors: Vergaelen E, Claes S, Kempke S, Swillen A

Abstract
The 22q11.2 deletion syndrome (22q11.2DS) is a microdeletion syndrome with high phenotypic variability, including somatic disorders like congenital heart disease and psychiatric disorders such as schizophrenia, anxiety disorders, and mood disorders. Clinical observations suggest that many patients with 22q11.2DS suffer from severe fatigue. However, to the best of our knowledge, no previous study has investigated the potential association between 22q11.2DS and fatigue. Twenty-nine patients (mean age 26.8, 18-38 y) with 22q11.2DS completed the multidimensional fatigue inventory (MFI) measuring severity of fatigue. The results of the study group were compared with published population norms. In addition, cross-sectional associations between fatigue, depression (Beck Depression Inventory-BDI), and a quality of life questionnaire (WHO) in patients with 22q11.2 DS were examined. Subscales and total MFI scores were significantly higher in adults with 22q11.2DS. Approximately 80% of the study group had a total MFI score above the mean of the norms. A significant correlation between depressive symptoms and fatigue was found. Fatigue was also significantly associated with quality of life scores, specifically the general score, psychological health, and environment. This is the first report of high levels of fatigue in adults with the 22q11.2DS. Fatigue is a frequent complaint in this age group and should get the necessary attention given its association with quality of life and depression severity. Taking into account the multisystem nature of the 22q11.2DS, we recommend a systematic clinical examination to exclude underlying somatic or psychiatric causes of fatigue. © 2017 Wiley Periodicals, Inc.

PMID: 28190295 [PubMed - indexed for MEDLINE]

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