ABSTRACT
OBJECTIVE: We studied the clinical presentation and management of acute pulmonary arterial hypertension (PAH) in healthy young infants, and the effect of thiamine therapy. METHODS: Review of hospital records was conducted for 56 healthy infants (aged below 6 month) who developed sudden onset of pulmonary arterial hypertension as diagnosed on 2D echocardiography, and were admitted at our institution. RESULTS: All patients received supportive care and pulmonary vasodilator therapy, whereas those admitted after Sep-tember, 2019 (n=28) received thiamine in addition, as per the institute's protocol. Overall, complete recovery was seen in 80% (n=45). Infants who died had significantly lower mean pH (7.05 vs 7.27; P=0.001) and serum bicarbonate (9.1 vs 14.9; P=0.007), higher arterial lactate (72.7 vs 61.5; P=0.92), ventricular dysfunction (16 vs 10; P=0.01) and shock (7 vs 9; P=0.008) when compared to those who survived. Baseline characteristics, severity of acidosis and pulmonary hypertension, time taken to recover from PAH, presence of ventricular dysfunction were comparable among those who received thiamine and those who did not receive it. Similarly, recovery (89% vs 71%; P=0.17) and mortality (11% vs 29%) were also comparable between the two groups. CONCLUSIONS: A significant proportion of infants with PAH improve with supportive treatment and pulmonary vasodilator therapy. Thiamine supplementation may not give any additional benefit in these patients.
Subject(s)
Hypertension, Pulmonary , Pulmonary Arterial Hypertension , Ventricular Dysfunction , Humans , Infant , Aged , Hypertension, Pulmonary/diagnosis , Pulmonary Arterial Hypertension/drug therapy , Retrospective Studies , Familial Primary Pulmonary Hypertension/drug therapy , Vasodilator Agents/therapeutic use , Thiamine/therapeutic use , Ventricular Dysfunction/drug therapyABSTRACT
Cardiospondylocarpofacial syndrome (CSCF; MIM#157800) is a rare condition caused by monoallelic variants in the MAP3K7 gene. The characteristic features of CSCF include growth retardation, facial dysmorphism, carpal-tarsal fusion, dorsal spine synostosis, deafness, inner ear malformation, cardiac septal defect and valve dysplasia. We present here a 20-week-old fetus with cardiospondylocarpofacial syndrome arising from a de novo variant c.616T>G p.(Tyr206Asp) in the MAP3K7 (NM_145331.3) gene with early and severe tricuspid valve dysplasia as a prenatal manifestation. Fetal echocardiography revealed tricuspid regurgitation with valve prolapse. Fetus had facial dysmorphism and dilated right atrium and right ventricle with tricuspid valve dysplasia on perinatal evaluation. To the best of our knowledge, this is the first report mentioning the prenatal manifestation of cardiospondylocarpofacial syndrome.
Subject(s)
Heart Defects, Congenital , Mitral Valve Insufficiency , Tricuspid Valve Insufficiency , Pregnancy , Female , Humans , Tricuspid Valve , Heart Defects, Congenital/diagnostic imaging , Heart Defects, Congenital/genetics , Heart Defects, Congenital/complications , Mitral Valve Insufficiency/complications , Mitral Valve Insufficiency/genetics , Fetus , Tricuspid Valve Insufficiency/etiologyABSTRACT
Serum IgE and IL-13 levels were estimated in 40 idiopathic nephrotic syndrome and 16 controls. There were 15 first episode nephrotic syndrome (FENS), 15 infrequent relapsing nephrotic syndrome (IRNS) and 10 patients belonged to frequent relapsing nephrotic syndrome (FRNS). Serum IgE and IL-13 levels were significantly increased in active nephrotic syndrome and its sub-groups as compared to controls and remission (p < 0.001). IgE levels did not differ significantly among different subgroups, while Il-13 was significantly higher in FRNS in comparison with FENS (p = 0.041). Both IgE and IL-13 levels were comparable in nephrotic patients with and without bronchial asthma. Serum IL-13 had significant positive correlation with IgE (r = 0.605, p < 0.001). Thus, raised levels of IgE and IL-13 are found in nephrotic syndrome and could have a role in the pathogenesis of disease.
