Clinical presentation and long-term outcomes of infantile hypertrophic cardiomyopathy: a European multicentre study.

AIMS: Children presenting with hypertrophic cardiomyopathy (HCM) in infancy are reported to have a poor prognosis, but this heterogeneous group has not been systematically characterized. This study aimed to describe the aetiology, phenotype, and outcomes of infantile HCM in a well-characterized multicentre European cohort. METHODS AND RESULTS: Of 301 children diagnosed with infantile HCM between 1987 and 2019 presenting to 17 European centres [male n = 187 (62.1%)], underlying aetiology was non-syndromic (n = 138, 45.6%), RASopathy (n = 101, 33.6%), or inborn error of metabolism (IEM) (n = 49, 16.3%). The most common reasons for presentation were symptoms (n = 77, 29.3%), which were more prevalent in those with syndromic disease (n = 62, 61.4%, P < 0.001), and an isolated murmur (n = 75, 28.5%). One hundred and sixty-one (53.5%) had one or more co-morbidities. Genetic testing was performed in 163 (54.2%) patients, with a disease-causing variant identified in 115 (70.6%). Over median follow-up of 4.1 years, 50 (16.6%) underwent one or more surgical interventions; 15 (5.0%) had an arrhythmic event (6 in the first year of life); and 48 (15.9%) died, with an overall 5 year survival of 85%. Predictors of all-cause mortality were an underlying diagnosis of IEM [hazard ratio (HR) 4.4, P = 0.070], cardiac symptoms (HR 3.2, P = 0.005), and impaired left ventricular systolic function (HR 3.0, P = 0.028). CONCLUSIONS: This large, multicentre study of infantile HCM describes a complex cohort of patients with a diverse phenotypic spectrum and clinical course. Although overall outcomes were poor, this was largely related to underlying aetiology emphasizing the importance of comprehensive aetiological investigations, including genetic testing, in infantile HCM.

Emotional quality-of-life and patient-reported limitation in sports participation in children with uncorrected congenital and acquired heart disease in healthcare-restricted settings in low- and middle-income countries.

BACKGROUND: Little is known about emotional quality-of-life in paediatric heart disease in low- and middle-income countries where the prevalence of uncorrected lesions is high. Research on emotional quality-of-life and its predictors in these settings is key to planning interventions. METHODS: Ten-year retrospective cross-sectional study of children aged 6-17 years with uncorrected congenital or acquired heart disease in 12 low- and middle-income countries was conducted. Emotional functioning score of the PedsQL TM 4.0 generic core scale and data on patient-reported limitation in sports participation were collected via in-person interview and analysed using regression analyses. RESULTS: Ninety-four children reported mean emotional functioning scores of 71.94 (SD 25.32) [95% CI 66.75-77.13] with lower scores independently associated with having a parent with a chronic illness or who had died (p = 0.005), having less than three siblings (p = 0.007), and reporting a subjective limitation in carrying an item equivalent to a 4 lb load (p = 0.021). Patient-reported limitation in sports participation at least "sometimes" was present in 69% and was independently associated with experiencing symptoms at least once a month (p < 0.001). CONCLUSION: Some of the factors which were associated with better emotional quality-of-life were similar to those identified in previous studies in patients with corrected defects. Patient-reported limitation in sports participation is common. In addition to corrective surgery and exercise, numerous other interventions which are practicable during surgical missions might improve emotional quality-of-life.

Admission to Intensive Care for Palliative Care or Potential Organ Donation: Demographics, Circumstances, Outcomes, and Resource Use.

OBJECTIVES: To describe the characteristics, circumstances, change over time, resource use, and outcomes of patients admitted to ICUs in Australia and New Zealand for the purposes of "palliative care of a dying patient" or "potential organ donation," and compare with actively managed ICU patients. DESIGN: A retrospective study of data from the Australian and New Zealand Intensive Care Society Adult Patient Database and a nested cohort analysis of a single center. SETTING: One hundred seventy-seven ICUs in Australia and New Zealand and a nested analysis of one university-affiliated hospital ICU in Melbourne, VIC, Australia. PATIENTS: Three thousand seven hundred "palliative care of a dying patient" and 1,115 "potential organ donation" patients from 2007 to 2016. The nested cohort included 192 patients. INTERVENTIONS: No interventions. Data extracted included patient demographics, diagnoses, length of stay, circumstances, and outcome of admission. MEASUREMENTS AND MAIN RESULTS: ICU admissions for "palliative care of a dying patient" and "potential organ donation" increased from 179 in 2007 to 551 in 2016 and from 44 in 2007 to 174 in 2016 in each respective group, though only the "potential organ donation" cohort showed an increase in proportion of total ICU admissions. Lengths of stay in ICU were a mean of 33.8 hours (median, 17.5; interquartile range, 6.4-38.8) and 44.7 hours (26.6; 16.0-44.6), respectively, compared with 74.2 hours (41.5; 21.7-77.0) in actively managed patients. Hospital mortality was 86.6% and 95.9%, respectively. In the nested cohort of 192 patients, facilitating family discussions about goals of treatment and organ donation represented the most common reason for ICU admission. CONCLUSIONS: Patients admitted to ICU to manage end-of-life care represent a small proportion of overall ICU admissions, with an increasing proportion of "potential organ donation" admissions. They have shorter ICU lengths of stay than actively managed patients, suggesting resource use for these patients is not disproportionate.