Diagnosis, management and long term cardiovascular outcomes of phenotypic profiles in pulmonary hypertension associated with congenital diaphragmatic hernia.

Congenital diaphragmatic hernia (CDH) is a developmental defect of the diaphragm resulting in herniation of viscera into the chest. This condition is characterized by pulmonary hypoplasia, pulmonary hypertension (PH) and cardiac ventricular dysfunction. PH is a key component of the pathophysiology of CDH in neonates and contributes to morbidity and mortality. Traditionally, PH associated with CDH (CDH-PH) is thought to be secondary to increased pulmonary arterial resistance and vasoreactivity resulting from pulmonary hypoplasia. Additionally, there is increasing recognition of associated left ventricular hypoplasia, dysfunction and elevated end diastolic pressure resulting in pulmonary venous hypertension in infants with CDH. Thus, hemodynamic management of these infants is complex and cautious use of pulmonary vasodilators such as inhaled nitric oxide (iNO) is warranted. We aim to provide an overview of different phenotypic profiles of CDH associated PH and potential management options based on current evidence and pathophysiology.

What Is the Hypoplastic Left Heart Syndrome?

As yet, there is no agreed definition for the so-called "hypoplastic left heart syndrome". Even its origin remains contentious. Noonan and Nadas, who as far as we can establish first grouped together patients as belonging to a "syndrome" in 1958, suggested that Lev had named the entity. Lev, however, when writing in 1952, had described "hypoplasia of the aortic outflow tract complex". In his initial description, as with Noonan and Nadas, he included cases with ventricular septal defects. In a subsequent account, he suggested that only those with an intact ventricular septum be included within the syndrome. There is much to commend this later approach. When assessed on the basis of the integrity of the ventricular septum, the hearts to be included can be interpreted as showing an acquired disease of fetal life. Recognition of this fact is important to those seeking to establish the genetic background of left ventricular hypoplasia. Flow is also of importance, with septal integrity then influencing its effect on the structure of the hypoplastic ventricle. In our review, we summarise the evidence supporting the notion that an intact ventricular septum should now be part of the definition of the hypoplastic left heart syndrome.

Hypoplastic Left Ventricle: Definition, Morphology, and Classification of the Cardiac Phenotypes.

A prior manuscript provided information about hypoplastic left heart syndrome (HLHS) and related malformations, including definitions, morphology, and classification, based on the 2021 International Paediatric and Congenital Cardiac Code (IPCCC) and the Eleventh Revision of the International Classification of Diseases (ICD-11). This manuscript provides information about the related cardiac phenotypes associated with "hypoplastic left ventricle" that might be suitable for biventricular repair, including definitions, morphology, and classification of the cardiac phenotypes of the following four congenital cardiac malformations that can all include a hypoplastic left ventricle: (1) hypoplastic left heart complex (HLHC), (2) critical aortic stenosis with left ventricular hypoplasia, (3) aortic atresia + ventricular septal defect, and (4) hypoplastic left ventricle with severely unbalanced atrioventricular septal defect.

Congenital Diaphragmatic Hernia Repair in a Patient With Pallister-Killian Mosaic Syndrome and Left Ventricular Hypoplasia.

We present the case of a two-week-old infant with congenital diaphragmatic hernia (CDH) and Pallister-Killian mosaic syndrome (PKS) for CDH repair. We discuss the pathophysiologic findings of both conditions and the resulting anesthetic challenges from their interplay.

HLHS: Power of the Chick Model.

BACKGROUND: Hypoplastic left heart syndrome (HLHS) is a rare but deadly form of human congenital heart disease, most likely of diverse etiologies. Hemodynamic alterations such as those resulting from premature foramen ovale closure or aortic stenosis are among the possible pathways. METHODS: The information gained from studies performed in the chick model of HLHS is reviewed. Altered hemodynamics leads to a decrease in myocyte proliferation causing hypoplasia of the left heart structures and their functional changes. CONCLUSIONS: Although the chick phenocopy of HLHS caused by left atrial ligation is certainly not representative of all the possible etiologies, it provides many useful hints regarding the plasticity of the genetically normal developing myocardium under altered hemodynamic loading leading to the HLHS phenotype, and even suggestions on some potential strategies for prenatal repair.

Isolated left ventricular hypoplasia - A singularity.

Isolated left ventricular hypoplasia is an entity with uncertain natural history and etiology. The presentation could vary from being asymptomatic to sudden death. This form of cardiomyopathy has been reported in infants as well as in adults. This case report aims to alert physicians to this diagnosis and the undeniable advantage of cardiac magnetic resonance.

The Author's Contributions to Echocardiography Literature (Part I-1978-1990) †.

The author has undertaken multiple echocardiographic studies during his academic career; most of these were published in peer-reviewed journals. These studies include an evaluation of the role of echocardiography in the estimation of left-to-right shunt in isolated ventricular septal defects, an examination of the utility of contrast echocardiography in the diagnosis of anomalous connection of the right superior vena cava to the left atrium, a description of pitfalls in M-mode echocardiographic assessment of the aortic root in left ventricular hypoplasia syndromes, reviews of echocardiographic evaluation of left ventricular function, study of the role of contrast echocardiography in the evaluation of hypoxemia following open heart surgery, a quantification of left ventricular muscle mass by m-mode echocardiography in children, an examination of race and sex related differences in echocardiographic measurements in children, study of cardiac size and function in patients with sickle cell disease, an examination of afterload reduction in the management of primary myocardial disease, study of the utility of echo-Doppler studies in the evaluation of the results of balloon pulmonary valvuloplasty, study of the usefulness of Doppler in the prediction of pressure gradients in valvar pulmonary stenosis, a review of Doppler echocardiography in noninvasive diagnoses of heart disease, echo-Doppler studies of the evaluation of the results of balloon angioplasty of aortic coarctation, study of the value of Doppler in the prediction of pressure gradients across coarctation of the aorta, and a characterization of foramen ovale and transatrial Doppler velocity patterns in the normal fetus.

Mitral atresia with transposed great arteries and normal semilunar valves: a rare combination.

Mitral atresia is commonly seen as a part of the spectrum of hypoplastic left heart syndrome, and it is usually associated with multiple levels of systemic outflow tract obstruction. Isolated mitral atresia with a normal aortic valve is extremely rare. We report the rare combination of mitral atresia, transposition of the great arteries, and unobstructed systemic and pulmonary blood flow.

Characterising adequacy or inadequacy of the borderline left ventricle: what tools can we use?

Borderline left ventricle refers to a spectrum of left ventricular underdevelopment, typically associated with other cardiac anomalies. The left ventricle may be mildly hypoplastic, as is sometimes seen accompanying aortic coarctation, or it can be severely hypoplastic, as is seen in hypoplastic left heart syndrome. For patients with a borderline left ventricle that is at either extreme, the treatment decision is relatively straightforward. Those with the most severe form of left ventricle hypoplasia will require single ventricle palliation or cardiac transplantation, whereas those with the mildest form may not need any intervention. It is the management strategy of children that fall within the grey zone of the spectrum, which continues to be controversial and remains variable within and among different institutions. Cardiac diseases with associated left ventricle hypoplasia include critical aortic stenosis, mitral stenosis, coarctation of the aorta, arch hypoplasia, cor triatriatum, unbalanced common atrioventricular canal, Shone's complex, total anomalous pulmonary venous return, and complex conotruncal abnormalities. In this review, we will discuss the assessment and management of infants with borderline left ventricle with critical aortic stenosis or arch obstruction and associated mitral anomalies.

Ectopia cordis with a double outlet right ventricle, large ventricular septal defect, malposed great arteries and left ventricular hypoplasia.

Ectopia cordis, defined as partial or complete displacement of the heart outside of the thoracic cavity, is a rare congenital malformation. If not surgically corrected during the early years of life, ectopia cordis can prove to be a fatal abnormality. However, due to the presence of multiple intracardiac and extracardiac malformations, a corrective surgery might not always be successful. The pathology of ectopia cordis with a double outlet right ventricle, large ventricular septal defect, malposed great arteries and left ventricular hypoplasia is discussed, highlighting the complexities involved in such a rare disorder.

Maternal hyperoxygenation improves left heart filling in fetuses with atrial septal aneurysm causing impediment to left ventricular inflow.

OBJECTIVES: Aneurysm of the atrial septum (AAS) with excessive excursion of septum primum into the left atrium is an uncommon and relatively benign fetal condition associated with impediment to left ventricular (LV) filling and the appearance of a slender, but apex-forming, LV on fetal echocardiography. Impediment to filling can be severe, creating the image of LV hypoplasia with retrograde aortic flow. We hypothesize that maternal hyperoxygenation alters atrial septal position, improves LV filling, and normalizes aortic flow in fetuses with AAS by increasing fetal pulmonary venous return. METHODS: Fetal echocardiography was performed prior to, and at 10 min of, maternal hyperoxygenation in 12 fetuses with AAS who were referred to our center because of LV hypoplasia. Atrial septal excursion (ASE), LV and right ventricular (RV) sphericity index (SI) and direction of flow in the aortic isthmus, as determined by Doppler, were measured. RESULTS: With maternal hyperoxygenation, mean ± SD ASE decreased (0.76 ± 0.17 before maternal hyperoxygenation vs 0.53 ± 0.23 after maternal hyperoxygenation; P < 0.01), consistent with increased pulmonary venous return, LV-SI increased (0.29 ± 0.06 vs 0.42 ± 0.06; P < 0.001), indicating increased LV filling, and the direction of aortic isthmus flow changed from retrograde in all cases prior to maternal hyperoxygenation to antegrade in 10 and to bidirectional in two. RV-SI remained unchanged (0.53 ± 0.13 vs 0.52 ± 0.10; P = 0.7). CONCLUSIONS: In cases of AAS, short-term maternal hyperoxygenation increases fetal pulmonary venous return, substantially alters LV geometry and promotes antegrade flow in the aortic isthmus. This demonstrates proof-of-concept that maternal hyperoxygenation can improve filling of the left side of the fetal heart in AAS.

The effect of keeping atrial septal fenestration in correction of total anomalous pulmonary venous connection with left ventricular hypoplasia / 中华胸心血管外科杂志

Objective To evaluate the effect of keeping atrial septal fenestration in correction of total anomalous pulmonary venous connection (TAPVC) with left ventricular hypoplasia.Methods We reviewed 44 TAPVC patients between June,2006 and June,2013 in Shanghai Xinhua Hospital.According to whether keeping atrial septal fenestration during operation,patients were divided into group A(keeping fenestration,25 cases) and group B(no fenestration,19 cases).Retrospective statistical analysis was carried on the in-patient data and follow-up outcomes.Results No statistically significant differences between the two group on age,weight,left ventricular volume and crossclamp time (P ＞ 0.05).While cardiopulmonary bypass time,ventilation time,dosage of positive inotropic drugs,and ICU stay time of group A were shorter compares with group B (P ＜ 0.05).4 patients in group A (16.00％) suffered from low cardiac output syndrome (LCOS) postoperatively,and 6 in group B(31.58％).Pulmonary edema occurred in 3 patients,1 in group A(4.00％),and 2 in group B(10.53％).Total post-operative mortality was 6.82％ (3/44).2 cases died of serious LCOS(1 from group A,and the other from group B),1 cases died of infection and multiple organ dysfunction syndrome(group B).No significant difference of mortality was observed between two groups.Follow-up data showed some fenestrations can close naturally.Conclusion Keeping atrial septal fenestration can be done as a feasibility tactic in correction of TAPVC with left ventricular hypoplasia.

Unusual combination of hypoplastic left ventricle, atrioventricular septal defect with restrictive ventricular septal defect, and common arterial trunk.

We describe rare cases of common arterial trunk (truncus arteriosus communis) with unbalanced atrioventricular septal defect, left ventricular hypoplasia, and restrictive ventricular septal defect. The embryology, hemodynamics, and the clinical implications of this complex combination are discussed.