ABSTRACT
Loeys-Dietz syndrome (LDS) is a connective tissue disorder that commonly results in a dilated aorta, aneurysms, joint laxity, craniosynostosis, and soft skin that bruises easily. Neurodevelopmental abnormalities are uncommon in LDS. Two previous reports present a total of four patients with LDS due to pure 1q41 deletions involving TGFB2 (Gaspar et al., American Journal of Medical Genetics Part A, 2017, 173, 2289-2292; Lindsay et al., Nature Genetics, 2012, 44, 922-927). The current report describes an additional five patients with similar deletions. Seven of the nine patients present with some degree of hypotonia and gross motor delay, and three of the nine present with speech delay and/or intellectual disability (ID). The smallest deletion common to all patients is a 785 kb locus that contains two genes: RRP15 and TGFB2. Previous studies report that TGFB2 knockout mice exhibit severe perinatal anomalies (Sanford et al., Development, 1997, 124, 2659-2670) and TGFB2 is expressed in the embryonic mouse hindbrain floor (Chleilat et al., Frontiers in Cellular Neuroscience, 2019, 13). The deletion of TGFB2 may be associated with a neurodevelopmental phenotype with incomplete penetrance and variable expression.
Subject(s)
Connective Tissue Diseases , Language Development Disorders , Loeys-Dietz Syndrome , Animals , Humans , Loeys-Dietz Syndrome/diagnosis , Loeys-Dietz Syndrome/genetics , Mice , Phenotype , Transforming Growth Factor beta2/geneticsABSTRACT
Congenital heart disease (CHD) is an indication which spans multiple specialties across various genetic counseling practices. This practice resource aims to provide guidance on key considerations when approaching counseling for this particular indication while recognizing the rapidly changing landscape of knowledge within this domain. This resource was developed with consensus from a diverse group of certified genetic counselors utilizing literature relevant for CHD genetic counseling practice and is aimed at supporting genetic counselors who encounter this indication in their practice both pre- and postnatally.
Subject(s)
Counselors , Heart Defects, Congenital , Certification , Counseling , Counselors/psychology , Genetic Counseling/psychology , Heart Defects, Congenital/genetics , HumansABSTRACT
Sudden arrhythmic death syndrome (SADS), where death is secondary to cardiac arrhythmia, is associated with several cardiac ion channelopathies, including long QT syndrome and Brugada syndrome, as well as cardiomyopathies such as hypertrophic cardiomyopathy and dilated cardiomyopathy. Many of these conditions often present in childhood or adolescence. This study investigates how diagnoses of cardiac diseases associated with SADS are communicated within families. A questionnaire was distributed through cardiac disease-focused support groups and organizations. Data from 114 parents who have a child with a SADS condition were used for analysis. Based on the responses, parents explained the risk of SADS in a straightforward manner and related the risk to the importance of compliance with the prescribed treatment. Participants also found it difficult to determine and enforce lifestyle modifications, manage individuals' emotional reactions, convey the seriousness of the information without scaring their children, and discuss the risk of SADS during these conversations. Concerns regarding disease progression, length and quality of life, and treatment failures were also expressed. Healthcare providers, the Internet, other affected people, visual aids, and personal experience were all reported to be helpful for facilitating these discussions. Services and resources requested by participants included children's support groups, a counselor or psychologist, and child-oriented materials. Increased understanding of how families discuss children's diagnosis of SADS conditions will equip healthcare providers with the information to address parental concerns and help facilitate meaningful and informative discussions within families.
Subject(s)
Cardiomyopathy, Dilated/complications , Cardiomyopathy, Hypertrophic/complications , Death, Sudden, Cardiac/epidemiology , Death, Sudden, Cardiac/etiology , Long QT Syndrome/complications , Adolescent , Adult , Aged , Child , Child, Preschool , Communication , Female , Humans , Infant , Infant, Newborn , Male , Middle Aged , Parents , Quality of Life , Risk Factors , Surveys and Questionnaires , United States , Young AdultABSTRACT
Hypertrophic cardiomyopathy (HCM) is considered to be a genetic disease. As such, multidisciplinary approach is needed to evaluate and treat this condition. We present several patient vignettes to illustrate the complementary skills of cardiologists and genetic counselors in providing comprehensive care. Translational application of research will continue to expand as more genetic causes of HCM will be recognized and more genetic tests will become available. Now is the opportunity to build a strong collaboration between the two disciplines to be prepared for the era of personalized medicine.
Subject(s)
Cardiomyopathy, Hypertrophic, Familial/diagnosis , Cardiomyopathy, Hypertrophic/diagnosis , Genetic Counseling , Genetic Testing , Adult , Aged , Cardiomyopathy, Hypertrophic/genetics , Cardiomyopathy, Hypertrophic/psychology , Cardiomyopathy, Hypertrophic/therapy , Cardiomyopathy, Hypertrophic, Familial/genetics , Cardiomyopathy, Hypertrophic, Familial/therapy , Case Management , Cooperative Behavior , Female , Genetic Counseling/psychology , Genetic Predisposition to Disease , Genetic Testing/psychology , Health Knowledge, Attitudes, Practice , Humans , Male , Patient Care Team , Patient Education as Topic , Pedigree , Physician-Patient Relations , Predictive Value of Tests , Prognosis , Risk Assessment , Risk FactorsABSTRACT
Hypertrophic cardiomyopathy (HCM) is a common cardiac disease that is now being identified in the pediatric population. The etiology of this disease is largely genetic, and as a result, genetics professionals are becoming more involved in the management of these patients. We present multiple case scenarios that highlight the complex nature of this disease and how genetic counselors and cardiologists can interact to identify the genetic etiology of HCM and provide comprehensive care for these patients. Additionally, we describe knowledge gaps in this field and how research endeavors can assist in more effectively managing this patient cohort.
