Background/Aims-Glycogen storage disease III (GSD III) is caused by a deficiency of glycogendebranching enzyme which causes an incomplete glycogenolysis resulting in glycogen accumulation with abnormal structure (short outer chains resembling limit dextrin) in liver and muscle. Hepatic involvement is considered mild, self-limiting and improves with age. With increased survival, a few cases of liver cirrhosis and hepatocellular carcinoma (HCC) have been reported.Methods-A systematic review of 45 cases of GSD III at our center (20 months to 67 years of age) was reviewed for HCC, 2 patients were identified. A literature review of HCC in GSD III was performed and findings compared to our patients.Conclusions-GSD III patients are at risk for developing HCC. Cirrhosis was present in all cases and appears to be responsible for HCC transformation There are no reliable biomarkers to monitor for HCC in GSD III. Systematic evaluation of liver disease needs be continued in all patients, despite lack of symptoms. Development of guidelines to allow for systematic review and microarray studies are needed to better delineate the etiology of the hepatocellular carcinoma in patients with GSD III.

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Sudden unexpected death is typically diagnosed in infants, children, teenagers, and young adults following completion of an autopsy that fails to identify a cause of death or when autopsy suggests a potentially genetic cause of death in an individual less than 40, such as cardiomyopathy or aneurysm. Such deaths may be a result of genetic abnormalities that are unable to be diagnosed by gross or microscopic inspection, but may be detectable by molecular studies. Unfortunately, the ability to perform postmortem genetic testing is frequently hindered by lack of an appropriate specimen following completion of an autopsy. This paper provides recommendations developed by the National Association of Medical Examiners with the assistance of genetic counselors. The recommendations establish procedures to facilitate postmortem genetic testing and DNA banking by health care professionals assisting families who have experienced sudden death in young relatives by clarifying proper sample acquisition and storage. Additionally, recommendations for discussion with surviving family members and test planning are provided. The objective of these recommendations is to ensure that postmortem samples suitable for DNA banking are retained, allowing at risk family members improved detection of potentially treatable genetic diseases.

Sudden cardiac death is a tragic result of a number of cardiovascular diseases. While the majority of sudden cardiac death cases are in older individuals with coronary artery disease, victims also include younger people (those less than 40 years old). At least 40% of cases of young sudden death are attributable to genetic causes, including diagnoses such as long QT syndrome and hypertrophic cardiomyopathy. In 50% of young sudden death cases, there are no warning signs or family history of sudden death. These young sudden deaths are a tragedy for families and in many cases are devastating for communities as well. Awareness is spreading among medical examiners and cardiologists on how to assess and treat these families but few healthcare providers see cases routinely. The combination of an unexpected death and the burden of potentially having a genetic disease themselves leaves family members in a vulnerable and often overwhelming position. Genetic counselors, particularly those who specialize in cardiovascular disease, are uniquely qualified to help surviving family members navigate the medical and psychosocial issues present in these cases.

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.

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.

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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.