Purpose: Visitor restrictions during the COVID-19 pandemic limit in-person family meetings for hospitalized patients. We aimed to evaluate the quantity of family meetings by telephone, video and in-person during the COVID-19 pandemic by manual chart review. Secondary outcomes included rate of change in patient goals of care between video and in-person meetings, the timing of family meetings, and variability in meetings by race and ethnicity. Methods: A retrospective cohort study evaluated patients admitted to the intensive care unit at an urban academic hospital between March and June 2020. Patients lacking decision-making capacity and receiving a referral for a video meeting were included in this study. Results: Most patients meeting inclusion criteria (N = 61/481, 13%) had COVID-19 pneumonia (n = 57/61, 93%). A total of 650 documented family meetings occurred. Few occurred in-person (n = 70/650, 11%) or discussed goals of care (n = 233/650, 36%). For meetings discussing goals of care, changes in patient goals of care occurred more often for in-person meetings rather than by video (36% vs. 11%, p = 0.0006). The average time to the first goals of care family meeting was 11.4 days from admission. More documented telephone meetings per admission were observed for White (10.5, SD 9.5) and Black/African-American (7.1, SD 6.6) patients compared to Hispanic or Latino patients (4.9, SD 4.9) (p = 0.02). Conclusions: During this period of strict visitor restrictions, few family meetings occurred in-person. Statistically significant fewer changes in patient goals of care occurred following video meetings compared to in-person meetings, providing support limiting in-person meetings may affect patient care.

Friedreich’s ataxia (FRDA), which occurs in 1/50000 live births, is the most prevalent inherited neuromuscular disorder. Nearly all FRDA patients develop cardiomyopathy at some point in their lives. The clinical manifestations of FRDA include ataxia of the limbs and trunk, dysarthria, diabetes mellitus, and cardiac diseases. However, the broad clinical spectrum makes FRDA difficult to identify. The diagnosis of FRDA is based on the presence of suspicious clinical factors, the use of the Harding criteria and, more recently, the use of genetic testing for identifying the expansion of a triplet nucleotide sequence. FRDA is linked to a defect in the mitochondrial protein frataxin; an epigenetic alteration interferes with the folding of this protein, causing a relative deficiency of frataxin in affected patients. Frataxins are small essential proteins whose deficiency causes a range of metabolic disturbances, including oxidative stress, iron-sulfur cluster deficits, and defects in heme synthesis, sulfur amino acid metabolism, energy metabolism, stress responses, and mitochondrial function. The cardiac involvement seen in FRDA is a consequence of mitochondrial proliferation as well as the loss of contractile proteins and the subsequent development of myocardial fibrosis. The walls of the left ventricle become thickened, and different phenotypic manifestations are seen, including concentric or asymmetric hypertrophy and (less commonly) dilated cardiomyopathy. Dilated cardiomyopathy and arrhythmia are associated with mortality in patients with FRDA, whereas hypertrophic cardiomyopathy is not. Systolic function tends to be low-normal in FRDA patients, with an acute decline at the end of life. However, the literature includes only a few long-term prospective studies of cardiac progression in FRDA, and the cause of death is often attributed to heart failure and arrhythmia postmortem. Cardiomyopathy tends to be correlated with the clinical neurologic age of onset and the nucleotide triplet repeat length (i.e., markers of phenotypic disease severity) rather than the duration of disease or the severity of neurologic symptoms. As most patients are wheelchair-bound within 15 years of diagnosis, the clinical determination of cardiac involvement is often complicated by comorbidities. Researchers are currently testing targeted therapies for FRDA, and a centralized database, patient registry, and natural history study have been launched to support these clinical trials. The present review discusses the pathogenesis, clinical manifestations, and spectrum of cardiac disease in FRDA patients and then introduces gene-targeted and pathology-specific therapies as well as screening guidelines that should be used to monitor cardiac disease in this mitochondrial disorder.

US Department of Veterans Affairs Cooperative Studies Program.

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