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Cardiovascular genetic counseling

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https://www.readbyqxmd.com/read/28685506/update-on-modern-management-of-pheochromocytoma-and-paraganglioma
#1
REVIEW
Jacques W M Lenders, Graeme Eisenhofer
Despite all technical progress in modern diagnostic methods and treatment modalities of pheochromocytoma/paraganglioma, early consideration of the presence of these tumors remains the pivotal link towards the best possible outcome for patients. A timely diagnosis and proper treatment can prevent the wide variety of potentially catastrophic cardiovascular complications. Modern biochemical testing should include tests that offer the best available diagnostic performance, measurements of metanephrines and 3-methoxytyramine in plasma or urine...
June 2017: Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28677747/mesp1-loss%C3%A2-of%C3%A2-function-mutation-contributes-to-double-outlet-right-ventricle
#2
Min Zhang, Fu-Xing Li, Xing-Yuan Liu, Ri-Tai Huang, Song Xue, Xiao-Xiao Yang, Yan-Jie Li, Hua Liu, Hong-Yu Shi, Xin Pan, Xing-Biao Qiu, Yi-Qing Yang
Congenital heart disease (CHD) is the most common form of birth defect in humans, and remains a leading non‑infectious cause of infant mortality worldwide. An increasing number of studies have demonstrated that genetic defects serve a pivotal role in the pathogenesis of CHD, and mutations in >60 genes have been causally associated with CHD. CHD is a heterogeneous disease and the genetic basis of CHD in the majority of patients remains poorly understood. In the present study, the coding exons and flanking introns of the mesoderm posterior 1 (MESP1) gene, which encodes a basic helix‑loop‑helix transcription factor required for normal cardiovascular development, were sequenced in 178 unrelated patients with CHD...
September 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28653809/a-prenatal-diagnosis-of-mosaic-trisomy-5-reveals-a-postnatal-complete-uniparental-disomy-of-chromosome-5-with-multiple-congenital-anomalies
#3
Andrew M Reittinger, Benjamin M Helm, Debra J Boles, Inder K Gadi, Samantha A Schrier Vergano
Mosaic trisomy 5 is a very rare condition in liveborns, with few cases reported in the last four decades. There are some reports of prenatally diagnosed mosaic trisomy 5 resulting in phenotypically normal offspring, suggesting a low level of mosaicism, but there are also reports associated with multiple congenital anomalies, cardiovascular malformations, and intrauterine growth restriction. We report an infant male diagnosed with mosaic trisomy 5 (5/15 cells) via amniocentesis. The patient was subsequently found to have uniparental disomy 5 (UPD5) by postnatal chromosome microarray, but high-resolution chromosome analysis on peripheral blood did not identify trisomy 5...
June 27, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28620497/painful-ovulation-in-a-46-xx-sry-ve-adult-male-with-sox9-duplication
#4
Nandini Shankara Narayana, Anne-Maree Kean, Lisa Ewans, Thomas Ohnesorg, Katie L Ayers, Geoff Watson, Arthur Vasilaras, Andrew H Sinclair, Stephen M Twigg, David J Handelsman
46,XX disorders of sexual development (DSDs) occur rarely and result from disruptions of the genetic pathways underlying gonadal development and differentiation. We present a case of a young phenotypic male with 46,XX SRY-negative ovotesticular DSD resulting from a duplication upstream of SOX9 presenting with a painful testicular mass resulting from ovulation into an ovotestis. We present a literature review of ovulation in phenotypic men and discuss the role of SRY and SOX9 in testicular development, including the role of SOX9 upstream enhancer region duplication in female-to-male sex reversal...
2017: Endocrinology, Diabetes & Metabolism Case Reports
https://www.readbyqxmd.com/read/28606654/management-of-marfan-syndrome-during-pregnancy-a-real-world-experience-from-a-joint-cardiac-obstetric-service
#5
Joanna C E-S Lim, Matthew Cauldwell, Roshni R Patel, Anselm Uebing, Ruth A Curry, Mark R Johnson, Michael A Gatzoulis, Lorna Swan
BACKGROUND: Pregnancy in Marfan Syndrome (MFS) is associated with increased maternal risk of cardiovascular events. Given the maternal and genetic risks, pre-conception counselling is essential to facilitate informed choices. Multidisciplinary antenatal care with regular imaging is mandatory and best delivered through a Joint Cardiac Obstetric Service (JCOS). The aim of this study was to compare the care delivered in a JCOS against recognised international standards (European Society of Cardiology (ESC))...
September 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28598570/the-outcome-of-isolated-prenatal-ventricular-size-disproportion-in-the-absence-of-aortic-coarctation
#6
A E L van Nisselrooij, L Rozendaal, I Linskens, S A Clur, J Hruda, E Pajkrt, C L van Velzen, N A Blom, M C Haak
OBJECTIVES: Ventricular size disproportion is a marker for aortic coarctation (CoA) in fetal life, however, approximately 50% of fetuses do not develop CoA after birth. The aim of this study was to evaluate the postnatal outcome of cases with ventricular disproportion in the absence of CoA in this cohort. METHODS: All cases with prenatal isolated ventricular size disproportion in the period 2002-2015 were extracted from a prenatal congenital heart defects (CHD) registry of a regional cohort...
June 9, 2017: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28574935/genetic-insights-into-bicuspid-aortic-valve-disease
#7
Radoslaw Debiec, Hanish Sall, Nilesh J Samani, Aidan Bolger
Bicuspid aortic valve (BAV) is the most common valvular congenital heart defect in the general population. BAV is commonly associated with the presence of other congenital cardiovascular malformations, which leads to cardiovascular complications requiring surgery in around 27% of cases. Familial clustering of BAV is well-recognized, and international guidelines advocate that first-degree relatives of patients with BAV be screened. Studies of genetic linkage in affected families, syndromic forms of BAV, and sporadic patients led to discoveries of genetic loci harboring genes involved in the development of BAV...
July 2017: Cardiology in Review
https://www.readbyqxmd.com/read/28475226/molecular-cytogenetic-characterization-of-five-f8-complex-rearrangements-utility-for-haemophilia-a-genetic-counselling
#8
Y Jourdy, N Chatron, M Fretigny, M L Carage, H Chambost, S Claeyssens-Donadel, V Roussel-Robert, C Negrier, D Sanlaville, C Vinciguerra
BACKGROUND: Genomic inversions are usually balanced, but unusual patterns have been described in haemophilia A (HA) patients for intron 22 (Inv22) and intron 1 (Inv1) inversions leading to the hypothesis of more complex rearrangements involving deletions or duplications. AIM: To characterize five abnormal patterns either in Southern blot and long-range PCR for Inv22 or in PCR for Inv1. MATERIALS AND METHODS: All patients were studied using cytogenetic microarray analysis (CMA)...
May 5, 2017: Haemophilia: the Official Journal of the World Federation of Hemophilia
https://www.readbyqxmd.com/read/28397213/-analysis-of-genome-wide-copy-number-variations-among-fetuses-with-abnormalities-detected-by-prenatal-ultrasouography
#9
Ke Wu, Shaohua Tang, Chong Chen, Huanzheng Li, Lili Zhou, Jianxin Lyu
OBJECTIVE: To explore the genetic etiology of fetal abnormalities detected by prenatal ultrasound through single nucleotide polymorphism (SNP array) analysis. METHODS: Two hundred and eight fetuses were tested with SNP array and conventional karyotyping. Complex copy number variations (CNVs) were verified with fluorescence in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA) and quantitative fluorescence polymerase chain reaction (QF-PCR)...
April 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28383366/a-novel-case-of-autosomal-dominant-cutis-laxa-in-a-consanguineous-family-report-and-literature-review
#10
Mehmet B Duz, Emre Kirat, Paul J Coucke, Erkan Koparir, Alper Gezdirici, Anne De Paepe, Bert Callewaert, Mehmet Seven
Autosomal dominant cutis laxa (ADCL, OMIM #123700) is a rare connective tissue disorder characterized by loose, redundant skin folds that may be apparent form birth or appear later in life. Most severely affected areas are the neck, axillar regions, trunk, and groin. Typically, patients present with characteristic facial features including a premature aged appearance, long philtrum, a high forehead, large ears, and a beaked nose. Cardiovascular and pulmonary complications include bicuspid aortic valves, aortic root dilatation, and emphysema...
July 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28283918/at-the-heart-of-the-pregnancy-what-prenatal-and-cardiovascular-genetic-counselors-need-to-know-about-maternal-heart-disease
#11
REVIEW
Ana Morales, Dawn C Allain, Patricia Arscott, Emily James, Gretchen MacCarrick, Brittney Murray, Crystal Tichnell, Amy R Shikany, Sara Spencer, Sara M Fitzgerald-Butt, Jessica D Kushner, Christi Munn, Emily Smith, Katherine G Spoonamore, Harikrishna S Tandri, W Aaron Kay
In the last decade, an increasing number of cardiac conditions have been shown to have a genetic basis. Cardiovascular genetic counseling has emerged as a subspecialty aiming to identify unaffected at-risk individuals. An important sector of this at-risk population also includes expectant mothers, in whom unique clinical challenges may arise. Genetic counselors, especially those in cardiovascular and prenatal settings, have an opportunity to identify and assist women who may benefit from cardiovascular care during pregnancy...
August 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28259368/practices-and-attitudes-of-canadian-cardiologists-caring-for-patients-with-trisomy-18
#12
Aisling A Young, Christy Simpson, Andrew E Warren
Trisomy 18 (T18) is a genetic disorder with cardiac lesions in up to 90% of patients. Cardiac surgery is not frequently offered because of the overall poor prognosis, although this has recently been challenged. Our study aimed to explore the practices and attitudes of Canadian pediatric cardiologists managing T18 patients. We administered a survey to pediatric cardiologists attending the Canadian Cardiovascular Congress, Canadian Pediatric Cardiology Association Business Meeting. There were 30 respondents. Most (67%) supported comfort care for affected patients with a heart lesion...
April 2017: Canadian Journal of Cardiology
https://www.readbyqxmd.com/read/28235819/does-the-risk-of-hospitalisation-for-ischaemic-heart-disease-rise-already-before-widowhood
#13
Elina Einiö, Heta Moustgaard, Pekka Martikainen, Taina Leinonen
BACKGROUND: The death of a spouse has been shown to increase mortality from various causes, including ischaemic heart disease. It is unclear, however, whether cardiac problems are already on the rise before widowhood. METHODS: Using longitudinal register data of Finnish widows-to-be aged 65 and over at baseline (N=19 185), we assessed the risk of hospitalisation for ischaemic heart disease 18 months before and after widowhood. Hospital admissions were derived from national hospital discharge registers between 1996 and 2002...
February 24, 2017: Journal of Epidemiology and Community Health
https://www.readbyqxmd.com/read/28063875/clinical-worthlessness-of-genetic-prediction-of-common-forms-of-diabetes-mellitus-and-related-chronic-complications-a-position-statement-of-the-italian-society-of-diabetology
#14
REVIEW
R Buzzetti, S Prudente, M Copetti, M Dauriz, S Zampetti, M Garofolo, G Penno, V Trischitta
AIM: We are currently facing several attempts aimed at marketing genetic data for predicting multifactorial diseases, among which diabetes mellitus is one of the more prevalent. The present document primarily aims at providing to practicing physicians a summary of available data regarding the role of genetic information in predicting diabetes and its chronic complications. DATA SYNTHESIS: Firstly, general information about characteristics and performance of risk prediction tools will be presented in order to help clinicians to get acquainted with basic methodological information related to the subject at issue...
February 2017: Nutrition, Metabolism, and Cardiovascular Diseases: NMCD
https://www.readbyqxmd.com/read/28045975/titin-truncating-variants-in-dilated-cardiomyopathy-prevalence-and-genotype-phenotype-correlations
#15
Maria Franaszczyk, Przemyslaw Chmielewski, Grazyna Truszkowska, Piotr Stawinski, Ewa Michalak, Malgorzata Rydzanicz, Malgorzata Sobieszczanska-Malek, Agnieszka Pollak, Justyna Szczygieł, Joanna Kosinska, Adam Parulski, Tomasz Stoklosa, Agnieszka Tarnowska, Marcin M Machnicki, Bogna Foss-Nieradko, Malgorzata Szperl, Agnieszka Sioma, Mariusz Kusmierczyk, Jacek Grzybowski, Tomasz Zielinski, Rafal Ploski, Zofia T Bilinska
TTN gene truncating variants are common in dilated cardiomyopathy (DCM), although data on their clinical significance is still limited. We sought to examine the frequency of truncating variants in TTN in patients with DCM, including familial DCM (FDCM), and to look for genotype-phenotype correlations. Clinical cardiovascular data, family histories and blood samples were collected from 72 DCM probands, mean age of 34 years, 45.8% FDCM. DNA samples were examined by next generation sequencing (NGS) with a focus on the TTN gene...
2017: PloS One
https://www.readbyqxmd.com/read/28028964/genetic-factors-in-selected-complex-congenital-malformations-with-cleft-defect
#16
REVIEW
Piotr Wójcicki, Maciej J Koźlik, Karolina Wójcicka
Cleft lips, alveolar ridges and palates are among the most common birth defects. There are over 500 different complex genetic disorders that include cleft defects. The most common related defects include abnormalities of the skeleton, skull, cardiovascular and nervous system. The occurrence of a cleft results from the interplay of multiple genes and environmental factors. Several thousand different mutations responsible for these syndromes have been discovered, whereas there are still numerous phenotypic cases of unknown genetic origin...
September 2016: Advances in Clinical and Experimental Medicine: Official Organ Wroclaw Medical University
https://www.readbyqxmd.com/read/27958623/clinical-expression-of-holt-oram-syndrome-on-the-basis-of-own-clinical-experience-considering-prenatal-diagnosis
#17
Zofia Walencka, Aleksander Jamsheer, Piotr Surmiak, Małgorzata Baumert, Aleksandra Jezela-Stanek, Andrzej Witek, Anna Materna-Kiryluk, Anna Latos-Bieleńska, Magdalena Socha, Anna Sowińska-Seidler
OBJECTIVES: Holt-Oram syndrome manifests with defects of upper limbs, pectoral girdle and cardiovascular system. The aim of this paper was to present complex clinical picture of the syndrome and its variable expression on the example of the family diagnosed genetically on the neonatal ward, after proband's prenatal examination. MARETIAL AND METHODS: Nine family members were tested for TBX5 gene mutation. RESULTS: Four of family members were diagnosed with Holt-Oram syndrome and five had correct genetic test results...
2016: Ginekologia Polska
https://www.readbyqxmd.com/read/27741188/disorders-of-sexual-development-in-adult-women
#18
REVIEW
Veronica Gomez-Lobo, Anne-Marie Amies Oelschlager
Disorders (differences) of sexual development encompass a variety of conditions with atypical development of chromosomal, gonadal, or anatomic sex. Three of the most common differences of sex development conditions include congenital adrenal hyperplasia, complete androgen insensitivity, and Turner syndrome. Obstetrician-gynecologists who care for affected individuals in their practice must be familiar with the genetic, endocrine, and anatomic considerations of the most common conditions to provide optimal care...
November 2016: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/27677773/patient-centered-interventions-to-improve-adherence-to-statins-a-narrative-synthesis-of-systematically-identified-studies
#19
REVIEW
Magnus Jörntén-Karlsson, Stéphane Pintat, Michael Molloy-Bland, Staffan Berg, Matti Ahlqvist
Poor adherence to statins increases cardiovascular disease risk. We systematically identified 32 controlled studies that assessed patient-centered interventions designed to improve statin adherence. The limited number of studies and variation in study characteristics precluded strict quality criteria or meta-analysis. Cognitive education or behavioural counselling delivered face-to-face multiple times consistently improved statin adherence compared with control groups (7/8 and 3/3 studies, respectively). None of four studies using medication reminders and/or adherence feedback alone reported significantly improved statin adherence...
October 2016: Drugs
https://www.readbyqxmd.com/read/27641144/high-burden-of-genetic-conditions-diagnosed-in-a-cardiac-neurodevelopmental-clinic
#20
Paula C Goldenberg, Betsy J Adler, Ashley Parrott, Julia Anixt, Karen Mason, Jannel Phillips, David S Cooper, Stephanie M Ware, Bradley S Marino
BACKGROUND: There is a known high prevalence of genetic and clinical syndrome diagnoses in the paediatric cardiac population. These disorders often have multisystem effects, which may have an important impact on neurodevelopmental outcomes. Taken together, these facts suggest that patients and families may benefit from consultation by genetic specialists in a cardiac neurodevelopmental clinic. OBJECTIVE: This study assessed the burden of genetic disorders and utility of genetics evaluation in a cardiac neurodevelopmental clinic...
April 2017: Cardiology in the Young
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