Quality of Life and Exercise Capacity in Early Stage and Subclinical Hypertrophic Cardiomyopathy: A Secondary Analysis of the VANISH Trial.

BACKGROUND: The health-related quality of life (HRQOL) and cardiopulmonary exercise testing (CPET) performance of individuals with subclinical and early stage hypertrophic cardiomyopathy (HCM) have not been systematically studied. Improved understanding will inform the natural history of HCM and factors influencing well-being. METHODS: VANISH trial (Valsartan for Attenuating Disease Evolution in Early Sarcomeric HCM) participants with early stage sarcomeric HCM (primary analysis cohort) and subclinical HCM (sarcomere variant without left ventricular hypertrophy comprising the exploratory cohort) who completed baseline and year 2 HRQOL assessment via the pediatric quality of life inventory and CPET were studied. Metrics correlating with baseline HRQOL and CPET performance were identified. The impact of valsartan treatment on these measures was analyzed in the early stage cohort. RESULTS: Two hundred participants were included: 166 with early stage HCM (mean age, 23±10 years; 40% female; 97% White; and 92% New York Heart Association class I) and 34 subclinical sarcomere variant carriers (mean age, 16±5 years; 50% female; and 100% White). Baseline HRQOL was good in both cohorts, although slightly better in subclinical HCM (composite pediatric quality of life score 84.6±10.6 versus 90.2±9.8; P=0.005). Both cohorts demonstrated mildly reduced functional status (mean percent predicted peak oxygen uptake 73±16 versus 78±12 mL/kg per minute; P=0.18). Percent predicted peak oxygen uptake and peak oxygen pulse correlated with HRQOL. Valsartan improved physical HRQOL in early stage HCM (adjusted mean change in pediatric quality of life score +4.1 versus placebo; P=0.01) but did not significantly impact CPET performance. CONCLUSIONS: Functional capacity can be impaired in young, healthy people with early stage HCM, despite New York Heart Association class I status and good HRQOL. Peak oxygen uptake was similarly decreased in subclinical HCM despite normal left ventricular wall thickness and excellent HRQOL. Valsartan improved physical pediatric quality of life scores but did not significantly impact CPET performance. Further studies are needed for validation and to understand how to improve patient experience. REGISTRATION: URL: https://www.clinicaltrials.gov; Unique identifier: NCT01912534.

Obesity trends in children, adolescents, and young adults with congenital heart disease.

OBJECTIVES: To determine the prevalence, age of onset, and risk factors for overweight and obesity in children with congenital heart disease (CHD). STUDY DESIGN: Children with CHD who were seen at our institution from 1996 to 2017 were studied. Patients were full-time residents of the United States and were receiving all cardiac care at our institution. Patients were categorized by age and CHD diagnosis. The date of last normal weight for age and the date of first recorded weight in the range of overweight and obese were documented. RESULTS: Nine hundred sixty-eight patients with CHD were included. The prevalence of overweight and obesity was 31.5% and 16.4%, respectively. For patients who became overweight or obese, the last recorded normal weight was between 6 and 10 years of age. Electrophysiologic disease and older age were risk factors for obesity. CONCLUSIONS: Children with CHD have an increasing risk of becoming overweight and obese in early childhood. This study provides important information and identifies critical period to implement preventative measures and counsel families about the risk of obesity in CHD.

Endocardial Coronary Artery: A Rare Congenital Coronary Anomaly.

Pediatric chest pain is a common reason for cardiology referral, and evaluation of exertional chest pain requires proper delineation of coronary anatomy. Congenital coronary anomalies are rare and often benign. However, certain anomalies such as intramural coronary arteries and myocardial bridges have been associated with angina, ventricular arrhythmias, and sudden cardiac death. We present a case of a 10-year-old male with exertional chest pain whose coronary anatomy could not be defined by echocardiography and further evaluation by computed tomography angiography revealed a rare congenital coronary anomaly.

Two Cases of Late Shone Syndrome With Pulmonary Hypertension: Heart-Lung Transplant or Valve Surgery?

Two cases of Shone syndrome with severe mitral and aortic valve problems and pulmonary hypertension were referred for heart-lung transplantation. Severely elevated pulmonary vascular resistance (PVR) was confirmed as was severe periprosthetic mitral and aortic regurgitation. Based on the severity of the valve lesions in both patients, surgery was decided upon and undertaken. Both experienced early pulmonary hypertensive crises, one more than the other, that gradually subsided, followed by excellent recovery and reversal of pulmonary hypertension and PVR. These cases illustrate Braunwald's concept that pulmonary hypertension secondary to left-sided valve disease is reversible.

Massive Soft Tissue Neurofibroma (Elephantiasis Neuromatosa): Case Report and Review of Literature.

The authors review the literature on massive soft tissue neurofibroma. The methods included a review of 71 reports (PubMed search 1929-2012) with a total of 91 massive soft tissue neurofibroma patients and illustration of clinical and radiological progression of massive soft tissue neurofibroma on a patient with neurofibromatosis type 1. The mean age at initial examination was 21 years. Tumor onset was mostly in childhood years. The commonest affected body segment was the lower extremity (46%), followed by head/neck (30%). Surgical management was pursued in the majority of cases (79%). Bleeding was a common complication (25%). Recurrence was described in 12%; multiple resections cases were described. Malignant transformation occurred in 5%. Although massive soft tissue neurofibroma may be present early in life, massive tumor overgrowth may take years. Predicting disease progression and/or benefit of surgical intervention early in the disease course is challenging. Recurrence and malignant transformation are possible. Massive soft tissue neurofibroma does not respond to chemotherapy or radiotherapy and is associated with life-threatening surgical complications.

Oxygen pulse kinetics in Fontan patients during treadmill ramp protocol cardiopulmonary exercise testing.

After single-ventricle palliation, patients have variable long-term functional outcomes. Cardiopulmonary exercise testing (CPET) is an assessment tool used to quantify functional outcome. Oxygen pulse kinetics during CPET, which can be an important indicator of dynamic changes in stroke volume reserve, has not been systematically studied in this population. This study aimed to analyze oxygen pulse kinetics during a treadmill ramp protocol among patients with Fontan physiology compared with that of normal subjects and to explore the ability of oxygen pulse kinetics to define functional status further. Peak oxygen pulse and change in oxygen pulse during ramp treadmill CPET were retrospectively collected and compared between 44 Fontan patients and 85 age- and sex-matched control subjects. The peak oxygen pulse was significantly lower in the Fontan group (9.80 ± 4.11 ml/beat) than in the control group (13.62 ± 4.7 ml/beat) (p ≤ 0.001). The resting oxygen pulse did not differ between the two groups (3.13 ± 1.23 vs. 3.09 ± 1.33 ml/beat; p = 0.88). The oxygen pulse was higher in the patients with chronotropic insufficiency, but the difference was not statistically significant (11.11 ± 4.97 vs. 9.25 ± 3.63 ml/beat; p = 0.17). Regression analysis showed a significant difference in the slope of the oxygen pulse-to-workload relationship. The Fontan group showed no relation between degree of reduction in the oxygen pulse from peak to end of exercise and the underlying defect, peak heart rate, peak oxygen consumption, ventilatory anaerobic threshold (VAT), expired volume (VE)/carbon dioxide output (VCO(2)) at the VAT, maximum heart rate, or minimum oxygen saturation. Analysis of oxygen pulse kinetics in Fontan patients suggests that there is an early and progressive limitation in stroke volume compared with control subjects. This limitation may be partially masked by increased oxygen extraction. In patients with chronotropic insufficiency, absolute or body surface area-indexed oxygen pulse may be higher than in those with a normal heart rate response. A composite assessment of the oxygen pulse and oxygen pulse kinetics, including the oxygen pulse slope and the percentage of reduction in oxygen pulse from peak to end of exercise, may allow a more comprehensive assessment of the degree of cardiac limitation in this group of patients.

Reversible cerebral vasoconstriction syndrome: a rare entity in children presenting with thunderclap headache.

Reversible cerebral vasoconstriction syndrome is characterized by a reversible segmental and multifocal vasoconstriction of cerebral arteries, and severe headaches with or without focal neurologic deficits or seizures. A 15-year-old boy presented with thunderclap headache. He had severe hypertension, although his neurologic examination was normal. Initial workup for thunderclap headache to exclude subarachnoid or intracranial hemorrhage, meningitis, pituitary apoplexy, or venous sinus thrombosis was negative. Brain magnetic resonance angiography and cerebral angiography demonstrated bilateral anterior and posterior circulation diffuse, multifocal, vascular irregularities (beading and stenosis) suggestive of underlying vasculopathy or vasculitis. He was started on verapamil. There was complete reversal of the vascular abnormalities in 6 weeks evident by magnetic resonance angiography, with resolution of headache and normalization of blood pressure. Reversible cerebral vasoconstriction syndrome has been rarely reported in children. This case report highlights the diagnostic dilemma and management of the rare childhood presentation of this condition.

Systemic to pulmonary venous shunt: imaging findings and clinical presentations.

Multislice computed tomography technology has enabled sophisticated insights into the evaluation of collateral venous pathways in the thorax. A small but well-established body of literature has described the multiple venous pathways in patients with central venous obstruction. In unusual circumstances, however, physiologically maladaptive pathways have been described involving systemic to pulmonary venous shunts. This paper describes 21 patients with systemic to pulmonary venous shunts having a wide spectrum of etiologies. Clinical presentations typically include cardiopulmonary symptomatology and paradoxical emboli. Ultrafast magnetic resonance and multislice computed tomography established the diagnosis of this uncommon but important entity.