Use of selexipag in a teenage patient with pulmonary arterial hypertension.

Pulmonary arterial hypertension (PAH) is a chronic, progressive, multifactorial disease. Currently, combination therapy is an attractive option for PAH management because three pathways (endothelin, nitric oxide, and prostacyclin) are involved in this disease. Selexipag is a novel oral prostacyclin pathway drug and is a highly selective IP prostacyclin receptor agonist with vasodilatory and antiproliferative effects. We report the case of a teenage patient with idiopathic PAH who presented in World Health Organization functional Class IV and showed no clinical improvement with dual therapy. We added oral selexipag to the treatment regimen and observed substantial improvement in her quality of life at the short-time follow-up. Despite the lack of childhood data regarding the use of selexipag in pediatric patients with PAH, the use of this drug in the current teenage patient improved her quality of life and exercise capacity.

A more effective alternative to the 6-minute walk test for the assessment of functional capacity in patients with pulmonary hypertension.

BACKGROUND: The prognosis of Pulmonary Hypertension (PH) is directly correlated with the functional capacity (FC). The most common FC test is the 6-Minute Walk Test (6MWT), however, there is evidence to suggest that the 6MWT does not reflect the real FC in PH patients. AIM: To compare physiological responses among three field walk tests and cardiopulmonary exercise testing (CPET) in patients with pulmonary hypertension (PH), and to determine the determinants of distance walked in the field walk tests. DESIGN: Cross sectional study. SETTING: Outpatient clinic. POPULATION: 26 volunteers (49.8±14.6 years), WHO functional class II-III and a mean pulmonary artery pressure of 45 mmHg. METHODS: Patients underwent three field walk test: 6MWT, incremental shuttle walk test (ISWT), and endurance shuttle walk test (ESWT) and CPET on different, non-consecutive days. The main outcome measures were heart rate and perception of effort at the peak of exercise. RESULTS: The ISWT achieved maximum levels of effort without significant difference in any physiologic response compared to CPET. The physiological responses during ISWT were significantly higher than 6MWT and ESWT responses. CONCLUSIONS: The ISWT produced the greatest physiologic response of the field tests safely for which reason it appears to be the most effective test to assess FC of PH patients. CLINICAL REHABILITATION IMPACT: The self-paced characteristic of the 6MWT and lower physiologic responses compared to the CPET were the main reason for this test to be classified as submaximal in PH patients. The physiological responses during the ESWT were significantly lower than other field tests highlighting the need for more research on this test and other field test in PH patients.

Multiple cardiac rhabdomyomas in tuberous sclerosis complex: case report and review of the literature

Cardiac rhabdomyoma is a benign tumor which constitutes the most common cardiovascular feature of the tuberous sclerosis complex, a multisystem genetically determined neurocutaneous disorder. Cardiac rhabdomyomas can be detected in the prenatal ultrasound, are usually asymptomatic and spontaneously regress within the first three years of life. Less often, the tumors' size, number, and location can produce a mass effect that may lead to blood flow abnormalities or organ dysfunction (heart failure and arrhythmia). In this setting, severe morbidity, and eventually, a lethal outcome despite clinical and surgical treatment may ensue. We describe a fatal case of multiple cardiac rhabdomyomas in a newborn girl. One of the rhabdomyomas was large and unfavorably located, causing significant obstruction of the left ventricular outflow tract. The autopsy identified, in addition to cardiac rhabdomyomas, brain glioneuronal hamartomas (cortical tubers), subependymal nodules and subependymal giant cell tumors, characteristic of the tuberous sclerosis complex. The newborn's family was investigated for the presence of typical clinical symptoms of the complex and image findings showed significant phenotypical variations and a broad symptom spectrum among the family members. This interesting case underscores the variability of tuberous sclerosis complex and the importance of performing a comprehensive postmortem examination in the identification of the cause of death, especially in the setting of familial disease.

Multiple cardiac rhabdomyomas in tuberous sclerosis complex: case report and review of the literature.

Cardiac rhabdomyoma is a benign tumor which constitutes the most common cardiovascular feature of the tuberous sclerosis complex, a multisystem genetically determined neurocutaneous disorder. Cardiac rhabdomyomas can be detected in the prenatal ultrasound, are usually asymptomatic and spontaneously regress within the first three years of life. Less often, the tumors' size, number, and location can produce a mass effect that may lead to blood flow abnormalities or organ dysfunction (heart failure and arrhythmia). In this setting, severe morbidity, and eventually, a lethal outcome despite clinical and surgical treatment may ensue. We describe a fatal case of multiple cardiac rhabdomyomas in a newborn girl. One of the rhabdomyomas was large and unfavorably located, causing significant obstruction of the left ventricular outflow tract. The autopsy identified, in addition to cardiac rhabdomyomas, brain glioneuronal hamartomas (cortical tubers), subependymal nodules and subependymal giant cell tumors, characteristic of the tuberous sclerosis complex. The newborn's family was investigated for the presence of typical clinical symptoms of the complex and image findings showed significant phenotypical variations and a broad symptom spectrum among the family members. This interesting case underscores the variability of tuberous sclerosis complex and the importance of performing a comprehensive postmortem examination in the identification of the cause of death, especially in the setting of familial disease.