Liver disease is being reported with increased frequency in survivors of the Fontan operation. The clinical impact of structural hepatic abnormalities in these patients remains largely unknown. We ...sought to assess if, and how, cardiologists are screening for hepatic disease in these patients to evaluate for clinical or laboratory correlates of structural hepatic disease and determine the prevalence and clinical impact of such disease. Retrospective data analysis from tertiary institutions was performed. Hepatic imaging studies and serology performed over the last decade were reviewed and clinical and laboratory correlates of structural hepatic alterations on liver imaging or biopsy were sought. Outcomes were determined. In this cohort study, 53 of 60 adult survivors (88%) underwent hepatic imaging with computed tomography, magnetic resonance imaging, or ultrasound with a median number of 2 (0 to 10) studies over the past decade. The frequency of hepatic imaging varied widely with 70% of patients undergoing serial studies. Cirrhosis with or without abnormal hepatic nodules was seen in 29 of 53 patients (55%) at 18.4 ± 5.6 years after the Fontan procedure. Adverse hepatic-related outcome occurred in 22% of the entire patient cohort and was unrelated to time from Fontan operation. In conclusion, there exists significant variability in the type and timing of testing for hepatic complications after the Fontan procedure. Structural hepatic alterations are common and can be associated with significant morbidity and mortality. Routine imaging, and serologic evaluation, is recommended in all Fontan survivors.
Background and Aims
Abnormal liver chemistries are common in Turner syndrome (TS). Guidelines suggest that TS patients undergo annual screening of liver enzymes, but the role of non‐invasive ...screening for steatosis and fibrosis is not clearly defined. We compared the prevalence of hepatic steatosis and fibrosis among TS patients to healthy controls using ultrasound with shear‐wave elastography (SWE) and assessed for risk factors associated with steatosis and fibrosis in TS.
Methods
Prospective case–control study of TS versus control patients from 2019 to 2021. All patients underwent abdominal ultrasound with doppler and SWE to assess hepatic fibrosis and steatosis. Risk factors were compared between TS and controls, as well as within the TS group.
Results
A total of 55 TS and 50 control patients were included. Mean age was 23.6 years vs. 24.6 years in the control group (p = .75). TS patients had significantly more steatosis (65% vs. 12%, stage 1 vs. 0, p < .0001) and fibrosis (39% vs. 2%, average Metavir F2 vs. F0, p < .00001) than controls. These findings remained significant after adjusting for body mass index (BMI) (p < .01). GGT is more sensitive than AST or ALT in identifying these changes.
Conclusion
TS is associated with an increased prevalence of hepatic steatosis and fibrosis compared to healthy controls. Our findings suggest that serum GGT and ultrasound with SWE may help identify TS patients with liver disease. Early risk factor mitigation including timely oestrogen replacement, weight control, normalization of lipids and promoting multidisciplinary collaboration should be encouraged.
Accurate prognostic assessment is a key driver of clinical decision making in heart disease in the young (HDY). This investigation aims to derive, validate, and calibrate multivariable predictive ...models for time to surgical or catheter-mediated intervention (INT) and for time to death in HDY. 4108 unique subjects were prospectively and consecutively enrolled, and randomized to derivation and validation cohorts. Total follow-up was 26,578 patient-years, with 102 deaths and 868 INTs. Accelerated failure time multivariable predictive models for the outcomes, based on primary and secondary diagnoses, pathophysiologic severity, age, sex, genetic comorbidities, and prior interventional history, were derived using piecewise exponential methodology. Model predictions were validated, calibrated, and evaluated for sensitivity to changes in the independent variables. Model validity was excellent for predicting mortality and INT at 4 months, 1, 5, 10, and 22 years (areas under receiver operating characteristic curves 0.813–0.915). Model calibration was better for INT than for mortality. Age, sex, and genetic comorbidities were significant independent factors, but predicted outcomes were most sensitive to variations in composite predictors incorporating primary diagnosis, pathophysiologic severity, secondary diagnosis, and prior intervention. Despite 22 years of data acquisition, no significant cohort effects were identified in which predicted mortality and intervention varied by study entry date. A piecewise exponential model predicting survival and freedom from INT is derived which demonstrates excellent validity, and performs well on a clinical sample of HDY outpatients. Objective model-based predictions could educate both patient and provider, and inform clinical decision making in HDY.
Objectives The study sought to assess the impact of pregnancy on the rate of aortic growth as well as on short- and long-term clinical outcomes in women with Marfan syndrome. Background There is a ...paucity of data on peripartum and long-term clinical outcomes in women with Marfan syndrome who are followed prospectively during pregnancy. Methods Echocardiographic, demographic, and surgical data review of all adult females with a confirmed diagnosis of Marfan syndrome was performed. Results Of the 98 women identified, 69 (72%) experienced a total of 199 pregnancies resulting in 170 (86%) live births. The median number of pregnancies per women was 3 (interquartile range: 1 to 12). Obstetrical complications occurred in 17 (10%) and adverse fetal outcomes in 22 (13%). No woman experienced aortic dissection or required cardiac surgery during pregnancy. Aortic growth rate increased during pregnancy and did not return to baseline following pregnancy completion. Despite the lack of catastrophic peripartum complications, the prevalence of both aortic dissection and elective aortic surgery during long-term follow-up was higher in those women who had a prior pregnancy. Risk factors for adverse cardiac outcome included greater aortic diameter, greater rate of aortic growth during pregnancy, increased number of pregnancies, lack of beta-blocker use during pregnancy, and lack of prospective pregnancy follow-up. Conclusions There is a low incidence of aortic complications during pregnancy in women with Marfan syndrome and an aortic diameter <4.5 cm. However, pregnancy does increase the risk of aortic complications in the long-term in this group of patients.
BACKGROUNDPathogenic variants in 11 genes predispose individuals to heritable thoracic aortic disease (HTAD), but limited data are available to stratify the risk for aortic events associated with ...these genes. OBJECTIVESThis study sought to compare the risk of first aortic event, specifically thoracic aortic aneurysm surgery or an aortic dissection, among 7 HTAD genes and variant types within each gene. METHODSA retrospective cohort of probands and relatives with rare variants in 7 genes for HTAD (n = 1,028) was assessed for the risk of first aortic events based on the gene altered, pathogenic variant type, sex, proband status, and location of recruitment. RESULTSSignificant differences in aortic event risk were identified among the smooth muscle contraction genes (ACTA2, MYLK, and PRKG1; P = 0.002) and among the genes for Loeys-Dietz syndrome, which encode proteins in the transforming growth factor (TGF)-β pathway (SMAD3, TGFB2, TGFBR1, and TGFBR2;P < 0.0001). Cumulative incidence of type A aortic dissection was higher than elective aneurysm surgery in patients with variants in ACTA2, MYLK, PRKG1, and SMAD3; in contrast, patients with TGFBR2 variants had lower cumulative incidence of type A aortic dissection than elective aneurysm surgery. Cumulative incidence of type B aortic dissection was higher for ACTA2, PRKG1, and TGFBR2 than other genes. After adjusting for proband status, sex, and recruitment location, specific variants in ACTA2 and TGFBR2 were associated with substantially higher risk of aortic event with childhood onset. CONCLUSIONSGene- and variant-specific data on aortic events in individuals with HTAD support personalized aortic surveillance and clinical management.
There is a need for timely transition of patients with congenital heart disease who have reached adulthood. While the American Heart Association guidelines dictate that patients with moderate or ...great complexity lesions be seen at least every 2 years, lapse in care is common. We sought to assess the frequency and clinical impact of lapse of medical care in adults with moderate or great complexity cardiac lesions diagnosed in childhood.
All patients, fulfilling the above criteria, who were seen in an Adult Congenital Heart Disease regional clinic from 2002 to 2005 were questioned as to the length of time from leaving care at a pediatric institution to establishment of subsequent cardiac care. Lapse of medical care, defined as ≥ 2 year interval from leaving a pediatric cardiac care facility, was determined. Variables associated with lapse of medical care were sought. Variables associated with adverse outcome were identified.
Of 400 patients seen, 158 met inclusion criteria. Of these, lapse of medical care was present in 99 (63%) with a median duration of lapse of medical care of 10 (2–50 years). The most common reason cited for lapse of medical care was that the patient was told there was no need for follow-up (32%). Patients with lapse of medical care were 3.1×(
p
=
0.003) more likely to require urgent cardiac intervention (
p
=
0.003).
Lapse of medical care is common in adults with congenital heart disease and is associated with adverse outcome.
We describe a neonatal patient with fixed dilated pupils and pulmonary, bladder, and bowel dysfunction suspicious for the presence of ACTA2 R179 mediated multisystemic smooth muscle dysfunction ...syndrome. Whole exome sequencing revealed compound heterozygous mutations in MYH11 after ACTA2 specific testing revealed no abnormalities. The child lived until 18 months of age and represents the only reported case of an MYH11 compound heterozygote with widespread smooth muscle dysfunction.
To examine changes in transition readiness (knowledge, self-efficacy, self-management) over time and explore factors associated with transition readiness, including psychosocial quality of life (QOL) ...and health service utilization in teens/young adults with congenital heart disease.
In a multicenter prospective cohort study, 356 patients, age 14-27 years, completed transition readiness and QOL assessments at routine cardiology visits at baseline and 1-year follow-up.
Median patient age was 19.8 years at 1.03 years (IQR 0.98-1.24) following baseline transition readiness assessment. Average knowledge deficit scores decreased at follow-up (P < .0001) and self-efficacy scores increased (P < .0001). Self-management scores increased (P < .0001), but remained low (mean 57.7, 100-point scale). Information was requested by 73% of patients at baseline and was associated with greater increase in knowledge at follow-up (P = .005). Increased knowledge (P = .003) and perceived self-efficacy (P = .01) were associated with improved psychosocial QOL, but not health service utilization at follow-up. Patients who preferred face-to-face information from healthcare providers (47%) vs other information sources were more likely to request information (P < .0001). In patients <18 years old, greater agreement between teen and parental perception of teen's knowledge was associated with greater increase in patient knowledge (P = .02) and self-efficacy (P = .003).
Transition readiness assessment demonstrated improved knowledge, self-efficacy, and self-management at 1-year follow-up in teens/young adults with congenital heart disease. Improved knowledge and self-efficacy were associated with improved psychosocial QOL. Self-management remained low. Supplemental media for conveying information and greater involvement of parents may be needed to optimize transition readiness.
Many patients with congenital cardiac disease are at risk for progressive aortic dilation. The mechanisms underlying aortic dilation in this patient cohort are described, and the similarities to the ...pathophysiologic alterations seen in Marfan syndrome are highlighted. Indications for treatment are discussed.
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