Association Between Exclusive Breastfeeding and Mixed Feeding With Craniofacial Growth in Infants Aged 0-6 Months: A Prospective Longitudinal Study.

Sudden cardiac death (SCD) in the young (SCDY), occurring between the ages of 1–50 years, is commonly the result of hereditary cardiomyopathies and arrhythmias are common causes of SCDY []. Oftentimes, these conditions remain undetected until the SCDY event [, ]. Expert consensus statements clearly state as the highest class recommendation and consensus evidence that “identification of inherited cardiac conditions that predispose to SCD should be made a public health priority as diagnosis may prevent future cardiac events in affected family members” []. These conditions are typically inherited in an autosomal dominant pattern, conferring a 50% inheritance risk to all first-degree relatives with incomplete penetrance and variable expressivity [–]. Expert consensus statements from the American Heart Association, the American College of Cardiology, the Heart Rhythm Society, and the European Society of Cardiology recommend clinical assessment of the decedent (including postmortem genetic testing) and first-degree relatives of SCDY decedents (encompassing clinical cardiology screening and genetic testing) to identify a probable cause of death and guide potentially preventative treatment when indicated [, –]. Cardiology guidelines recommend family clinical cardiac surveillance when the decedent’s age is less than 40–45 years at death [, ]. The systematic approach of identifying and genetic testing for at-risk relatives is known as cascade screening. Genetic tests for variants in cardiac rhythm disease reveal pathogenic or likely pathogenic variants in 20–30% of SCDY decedents [, ]. When one of these variants is discovered, and cascade screening is undertaken, the average yield has been 9 pre-symptomatic gene-positive individuals per family [, ]. Surviving relatives of SCDY victims have low rates of sudden death when guideline-based care is applied []. Despite recommendations and studies demonstrating improved outcomes, less than half of relatives are informed of their risk and even fewer receive recommended genetic testing [–]. Additionally, there is no standardized best practice to effectively disseminate cascade screening recommendations [, ]. Due to policies in the USA aimed to protect the privacy of individual health information, such as the Health Insurance Portability and Accountability Act (HIPAA), clinicians can help identify at-risk relatives based on the pedigree and encourage their patients to share risk information with their family, but they often do not initiate these conversations directly with relatives [–]. Some tools have been developed to provide support for this risk communication process, including clinician letters, downloadable family contact kits, and private Web-based family communication platforms. Even with these tools, family risk communication to encourage cascade screening and genetic testing across the genetic specialties continues to be a complex and challenging process for families and their healthcare providers. As a result of these challenges, some countries have adopted national legislation allowing medical providers to directly contact family members in some situations. Denmark approved such legislation in 2017 where medical doctor contact can be initiated under specific conditions including when the person is at risk for a life-threatening condition; there is an accurate test to clarify the person is at risk; the consequences of the condition can be reduced or avoided if diagnosed early; and the potential benefit outweighs the harm []. A 30-year history study of direct contact for Lynch syndrome cascade testing reported on 5,491 family members and demonstrated an uptake of cascade genetic testing of 72.5% after direct provider contact []. Within the USA, direct provider contact through genetic counselors has been attempted within the familial hypercholesterolemia space and using a combination of strategies was able to increase cascade testing of up to 26.6% of at-risk relatives []. While uptake of cascade testing has been demonstrated to be difficult, it seems especially complicated within families after an SCDY event. Studies have shown that individuals affected with inherited cardiac conditions are more vulnerable to psychological challenges such as distress, grief and uncertainty and manifest more profoundly following an SCD in a relative []. In the case of a sudden death, surviving relatives who have or are diagnosed posthumously with the inherited cardiac condition of their deceased relative with SCDY, the diagnosis in themselves could create further fear, anxiety, guilt, and distress. A study of patients with symptomatic Brugada syndrome (an arrhythmia syndrome that can increase the risk for fatal arrhythmias) demonstrated 15% developed new-onset depression or anxiety after the diagnosis []. The complicated nature of risk for SCD places an even higher burden on communicating this sensitive risk information to relatives.