-
F1000Research 2019Tetralogy of Fallot (ToF) is the most common type of cyanotic congenital heart disease. Since the first surgical repair in 1954, treatment has continuously improved. The... (Review)
Review
Tetralogy of Fallot (ToF) is the most common type of cyanotic congenital heart disease. Since the first surgical repair in 1954, treatment has continuously improved. The treatment strategies currently used in the treatment of ToF result in excellent long-term survival (30 year survival ranges from 68.5% to 90.5%). However, residual problems such as right ventricular outflow tract obstruction, pulmonary regurgitation, and (ventricular) arrhythmia are common and often require re-interventions. Right ventricular dysfunction can be seen following longstanding pulmonary regurgitation and/or stenosis. Performing pulmonary valve replacement or relief of pulmonary stenosis before irreversible right ventricular dysfunction occurs is important, but determining the optimal timing of pulmonary valve replacement is challenging for several reasons. The biological mechanisms underlying dysfunction of the right ventricle as seen in longstanding pulmonary regurgitation are poorly understood. Different methods of assessing the right ventricle are used to predict impending dysfunction. The atrioventricular, ventriculo-arterial and interventricular interactions of the right ventricle play an important role in right ventricle performance, but are not fully elucidated. In this review we present a brief overview of the history of ToF, describe the treatment strategies currently used, and outline the long-term survival, residual lesions, and re-interventions following repair. We discuss important remaining challenges and present the current state of the art regarding these challenges.
Topics: Cardiac Surgical Procedures; Humans; Pulmonary Valve Insufficiency; Survival Rate; Tetralogy of Fallot; Ventricular Dysfunction, Right
PubMed: 31508203
DOI: 10.12688/f1000research.17174.1 -
Vascular Health and Risk Management 2023Pulmonary stenosis (PS) is mainly a congenital defect that accounts for 7-12% of congenital heart diseases (CHD). It can be isolated or, more frequently, associated with... (Review)
Review
Pulmonary stenosis (PS) is mainly a congenital defect that accounts for 7-12% of congenital heart diseases (CHD). It can be isolated or, more frequently, associated with other congenital defects (25-30%) involving anomalies of the pulmonary vascular tree. For the diagnosis of PS an integrated approach with echocardiography, cardiac computed tomography and cardiac magnetic resonance (CMR) is of paramount importance for the planning of the interventional treatment. In recent years, transcatheter approaches for the treatment of PS have increased however, meaning surgery is a possible option for complicated cases with anatomy not suitable for percutaneous treatment. The present review aims to summarize current knowledge regarding diagnosis and treatment of PS.
Topics: Humans; Pulmonary Valve Stenosis; Echocardiography; Magnetic Resonance Imaging
PubMed: 37416511
DOI: 10.2147/VHRM.S380240 -
American Journal of Medical Genetics.... Mar 2020Noonan syndrome is a pleomorphic genetic disorder, in which a high percentage of affected individuals have cardiovascular involvement, most prevalently various forms of... (Review)
Review
Noonan syndrome is a pleomorphic genetic disorder, in which a high percentage of affected individuals have cardiovascular involvement, most prevalently various forms of congenital heart disease (i.e., pulmonary valve stenosis, septal defects, left-sided lesions, and complex forms with multiple anomalies). Care includes attentiveness to several comorbidities, some directly impacting cardiac management (bleeding diatheses and lymphatic anomalies). More than 50% of patients with Noonan syndrome harbor PTPN11 pathogenic variation, which results in hyperactivation of RAS/mitogen-activated protein kinase signaling. Several other disease genes with similar biological effects have been uncovered for NS and phenotypically related disorders, collectively called the RASopathies. Molecular diagnosis with gene resequencing panels is now widely available, but phenotype variability and in some cases, subtlety, continues to make identification of Noonan syndrome difficult. Until genetic testing becomes universal for patients with congenital heart disease, alertness to Noonan syndrome's broad clinical presentations remains crucial. Genotype-phenotype associations for Noonan syndrome enable better prognostication for affected patients when a molecular diagnosis is established. We still lack Noonan syndrome-specific treatment; however, newly developed anticancer RAS pathway inhibitors could fill that gap if safety and efficacy can be established for indications such as pulmonary valve stenosis.
Topics: Abnormalities, Multiple; Failure to Thrive; Heart Defects, Congenital; Humans; Mutation; Noonan Syndrome; Phenotype; Protein Tyrosine Phosphatase, Non-Receptor Type 11
PubMed: 32022400
DOI: 10.1002/ajmg.c.31765 -
Journal of the American College of... Oct 2022
Topics: Humans; Hypertension, Pulmonary; Aortic Valve Stenosis; Transcatheter Aortic Valve Replacement; Aortic Valve; Treatment Outcome; Risk Factors; Heart Valve Prosthesis
PubMed: 36265956
DOI: 10.1016/j.jacc.2022.09.005 -
Trends in Cardiovascular Medicine Feb 2022In patients with severe aortic stenosis (AS), pulmonary hypertension (PH) typically is indicative of a decompensated disease state with exhausted compensatory mechanisms... (Review)
Review
In patients with severe aortic stenosis (AS), pulmonary hypertension (PH) typically is indicative of a decompensated disease state with exhausted compensatory mechanisms of the left ventricle, meaning a heart failure state resulting from AS-related "cardiac injury". In the present review article, we discuss new insights into the pathophysiology of AS-induced PH, the prognostic impact, and potential options to prevent and treat PH in this setting. We emphasize recent data from studies focused on invasive hemodynamics in patients with severe AS that are being evaluated for aortic valve replacement, particularly the key relevance of combined pre- and post-capillary PH. This latter represents an advanced form of cardiac injury that is often associated with right ventricular dysfunction and poor prognosis. Given this context, we highlight the relevance of performing right heart catheterization in combination with non-invasive imaging for the comprehensive assessment of AS patients that are being evaluated for aortic valve replacement. Such comprehensive assessment plays a key role not only to precisely define the extent of AS-related cardiac injury but also to distinguish those PH forms that are unrelated to AS.
Topics: Aortic Valve; Aortic Valve Stenosis; Cardiac Catheterization; Heart Valve Prosthesis Implantation; Hemodynamics; Humans; Hypertension, Pulmonary
PubMed: 33346089
DOI: 10.1016/j.tcm.2020.12.005