scholarly journals Lung disease due to FLNA mutation improved after shunt closure for congenital heart disease

2021 ◽  
Author(s):  
Satomi Mori ◽  
Koji Tanoue ◽  
Hiroyuki Shimizu ◽  
Hiroyuki Nagafuchi ◽  
Ki‐Sung Kim ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Lung Disease ◽  
Congenital Heart ◽  
Shunt Closure

scholarly journals Restrictive Lung Disease is an Independent Predictor of Exercise Intolerance in the Adult with Congenital Heart Disease

2012 ◽  
Vol 8 (3) ◽  
pp. 246-254 ◽  
Author(s):  
Salil Ginde ◽  
Peter J. Bartz ◽  
Garick D. Hill ◽  
Michael J. Danduran ◽  
Julie Biller ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Lung Disease ◽  
Congenital Heart ◽  
Independent Predictor ◽  
Exercise Intolerance ◽  
Restrictive Lung Disease

Pulmonary hypertension

2020 ◽  
pp. 3695-3710
Author(s):  
Nicholas W. Morrell
Keyword(s):  
Congenital Heart Disease ◽  
Pulmonary Hypertension ◽  
Heart Disease ◽  
Pulmonary Arterial Hypertension ◽  
Arterial Hypertension ◽  
Lung Disease ◽  
Congenital Heart ◽  
Heart Function ◽  
Gene Encoding ◽  
Pulmonary Arterial

Symptoms of unexplained exertional breathlessness or symptoms out of proportion to coexistent heart or lung disease should alert the clinician to the possibility of pulmonary hypertension, and the condition should be actively sought in patients with known associated conditions, such as scleroderma, hypoxic lung disease, liver disease, or congenital heart disease. Heterozygous germ-line mutations in the gene encoding the bone morphogenetic protein type II receptor (BMPR2) are found in over 70% of families with pulmonary arterial hypertension. Pulmonary hypertension is defined as a mean pulmonary arterial pressure greater than 25 mm Hg at rest, and may be due to increased pulmonary vascular resistance (e.g. pulmonary arterial hypertension), increased transpulmonary blood flow (e.g. congenital heart disease), or increased pulmonary venous pressures (e.g. mitral stenosis). Exercise tolerance and survival in pulmonary hypertension is ultimately related to indices of right heart function, such as cardiac output.

scholarly journals COVID-19 and paediatric patient involvement (cardiovascular aspects)

2020 ◽  
Vol 22 (Supplement_P) ◽  
pp. P19-P24
Author(s):  
Jan Müller ◽  
Renate Oberhoffer ◽  
Leon Brudy ◽  
and Peter Ewert
Keyword(s):  
At Risk ◽  
Congenital Heart Disease ◽  
Heart Disease ◽  
Kawasaki Disease ◽  
Paediatric Patient ◽  
Lung Disease ◽  
Congenital Heart ◽  
Patient Involvement ◽  
Transmission Potential ◽  
Inflammatory Syndrome

Abstract The majority of children with COVID-19 infections, fortunately, shows only milder symptoms. Which however has led that they are considered only for their particular transmission potential. Nevertheless, cases with Multisystem Inflammatory Syndrome in Children and Kawasaki Disease with quite specific COVID-19 involvement have been reported and should be taken seriously. In addition, there are many children with a chronic pre-existing condition such as congenital heart disease, cancer, or lung disease who may be at risk for a severe course of COVID-19 when infected. Protecting these children, and children in general, should be a top priority, as these patients will have to live the rest of their long lives with possible sequelae of COVID-19.

scholarly journals Genotypes and Phenotypes: Making Progress Toward a Precision Medicine Approach in Pediatric Pulmonary Hypertension

2018 ◽  
Vol 17 (4) ◽  
pp. 153-158 ◽  
Author(s):  
Rachel K. Hopper ◽  
Mary P. Mullen
Keyword(s):  
Congenital Heart Disease ◽  
Pulmonary Hypertension ◽  
Heart Disease ◽  
Lung Disease ◽  
Precision Medicine ◽  
Growth And Development ◽  
Congenital Heart ◽  
Normal Lung ◽  
Pulmonary Vasculature ◽  
Cardiac Condition

Pediatric pulmonary hypertension (PH) is a heterogeneous disease that includes etiologies related to growth and development that are unique to children. Recent pediatric registry studies have characterized diverse phenotypes even within recognized PH subtypes, including PH associated with congenital heart disease and developmental lung disease. Advances in genetics are resulting in increased understanding of the genetic basis for PH, with recent discoveries such as TBX4 mutations specific for pediatric-onset pulmonary arterial hypertension (PAH) and SOX17 related to congenital heart disease–associated PAH. In addition to potential genetic underpinnings, PAH risk and clinical presentation in children with congenital heart disease may vary by cardiac condition, such as single-ventricle physiology or transposition of the great arteries. Growth and development of the pulmonary vasculature likely plays a role in all pediatric PH, which is highlighted by the disruption of normal lung growth in patients with PH related to prematurity and developmental lung disease. These diverse pediatric genotypes and phenotypes underscore a need for an individualized approach to diagnose and treat the complex pediatric PH population. Magnetic resonance imaging (MRI) is increasingly being used to improve clinical characterization of PH in children, with recent identification of specific MRI biomarkers associated with PH severity and outcomes. While much progress has been made, additional understanding of the important genetic causes and developmental concepts in pediatric PH is needed to develop a precision medicine approach to diagnosis and treatment of children with PH.

scholarly journals Lung disease due to FLNA mutation improved after shunt closure for congenital heart disease

2020 ◽  
Author(s):  
Satomi Mori ◽  
Koji Tanoue ◽  
Hiroyuki Shimizu ◽  
Hiroyuki Nagafuchi ◽  
Ki Kim ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Lung Disease ◽  
Congenital Heart ◽  
The Body ◽  
Lung Damage ◽  
Filamin A ◽  
Periventricular Nodular Heterotopia ◽  
Nodular Heterotopia

The FLNA gene encodes filamin A, an actin filament cross-linking protein that is ubiquitously expressed within the body. FLNA mutation causes periventricular nodular heterotopia (PVNH) and congenital heart disease. Interstitial lung disease (ILD) related to FLNA mutation has also been reported from 2011 and can be lethal. However, there are no reports of how to combine the treatment of heart disease with the conflicting treatment of lung disease. We herein report cases of two girls with FLNA mutation and both ILD and left-to-right shunts due to congenital heart disease. They presented with respiratory symptoms in early infancy and required management with long-term intubation and ventilation. However, their respiratory status improved subsequent to the closure of their left-to-right shunts even though they were small shunts with improvement in pulmonary hypertension. This suggests that early intervention with closure of cardiac shunts can prevent further deterioration of lung damage.

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