Congenital Heart Disease Classification, Epidemiology, Diagnosis, Treatment, and Outcome

Micheletti, Angelo

doi:10.1007/978-3-319-78423-6_1

Cited by 11 publications

(13 citation statements)

References 118 publications

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“…There are different types of CHD and consequently, different methods of disease classification ( Figure 3 ). Considering the underlying anatomy and pathophysiology, CHD may be classified as (1) CHD with shunt between systemic and pulmonary circulation, (2) left heart CHD, (3) right heart CHD, (4) CHD with anomalous origin of great arteries, and (5) miscellanea [ 136 ]. Based on pathophysiology using clinical consequence of structural defects on the physiology of blood circulation, CHD may be classified as (1) CHD with increased pulmonary blood flow (septal defects without pulmonary obstruction and with left-to-right shunt); (2) CHD with decreased pulmonary flow (septal defects with pulmonary obstruction and with right-to-left shunt); (3) CHD with obstruction to blood progression and no septal defects (no shunt); (4) CHD so severe as to be incompatible with postnatal blood circulation; and (5) CHD silent until adult age [ 137 ].…”

Section: Congenital Heart Diseasementioning

confidence: 99%

Insights into Cardiovascular Defects and Cardiac Epigenome in the Context of COVID-19

Sarkar

Sen

2022

Epigenomes

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Although few in number, studies on epigenome of the heart of COVID-19 patients show that epigenetic signatures such as DNA methylation are significantly altered, leading to changes in expression of several genes. It contributes to pathogenic cardiac phenotypes of COVID-19, e.g., low heart rate, myocardial edema, and myofibrillar disarray. DNA methylation studies reveal changes which likely contribute to cardiac disease through unknown mechanisms. The incidence of severe COVID-19 disease, including hospitalization, requiring respiratory support, morbidity, and mortality, is disproportionately higher in individuals with co-morbidities. This poses unprecedented strains on the global healthcare system. While their underlying conditions make patients more susceptible to severe COVID-19 disease, strained healthcare systems, lack of adequate support, or sedentary lifestyles from ongoing lockdowns have proved detrimental to their underlying health conditions, thus pushing them to severe risk of congenital heart disease (CHD) itself. Prophylactic vaccines against COVID-19 have ushered new hope for CHD. A common connection between COVID-19 and CHD is SARS-CoV-2’s host receptor ACE2, because ACE2 regulates and protects organs, including the heart, in various ways. ACE2 is a common therapeutic target against cardiovascular disease and COVID-19 which damages organs. Hence, this review explores the above regarding CHDs, cardiovascular damage, and cardiac epigenetics, in COVID-19 patients.

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Section: Congenital Heart Diseasementioning

confidence: 99%

Insights into Cardiovascular Defects and Cardiac Epigenome in the Context of COVID-19

Sarkar

Sen

2022

Epigenomes

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“…The second most prevalent congenital heart disease is atrial septal defect (ASD), comprising around 7-10% of all CHDs. 3,5 When the communication between the right and left atria is not closed, an atrial septal defect occurs. Because the left atrium level is higher than the right one, ASD causes a left to right shunt.…”

Section: Atrial Septal Defectmentioning

confidence: 99%

“…5,13 The characteristic pansystolic murmur, best-heard at the left mid-tolower sternal border, could go unnoticed until the shunt becomes maximum at a few weeks of age. 3,5 In general, the smaller the defect, the more intense the murmur. 3,5 Anti-congestive medications, such as furosemide, chlorothiazide, and/or spironolactone, are employed in the management of VSD with congestive heart failure symptoms.…”

Section: Ventricular Septal Defectmentioning

confidence: 99%

“…2 Congenital cardiac disease affects 6 to 8 out of every 1000 newborns. 3 Due to various types of cardiac abnormalities, CHD frequently presents with a variety of signs and symptoms. Excessive perspiration, intense exhaustion, poor feeding, shortness of breath, fatigue, rapid heartbeat, chest pain, cyanosis (blue tinge to the skin), and clubbing fingernails are some of the symptoms of this illness.…”

Section: Introductionmentioning

confidence: 99%

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Disease-related malnutrition in congenital 27 heart disease: what is the risk and impact on patient’s outcomes?

Noormanto

2022

World Nutr J

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Congenital heart disease (CHD) is the most common congenital anomaly in newborn babies. Malnutrition is common in children with congenital heart disease and may contribute to adverse outcomes. Malnutrition in children with CHD has been link to increased morbidity and mortality. Nutritional assessment and intervention before and after surgery is recommended to improve poor outcomes. This review aims to provide information about common CHD in children and nutrition pre- and post-operative cardiac surgery.

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“…However, CHD is generally simplified and categorized into more than 20 different types based on the specific anatomic or hemodynamic lesions. They include ventricular septal defect (VSD), atrial septal defect (ASD), patent ductus arteriosus (PDA), atrioventricular septal defect (AVSD), double outlet right ventricle (DORV), Tetralogy of Fallot (TOF), persistent truncus arteriosus communis (TAC), coarctation of the aorta (CoA), coronary artery anomalies, valvular pulmonary stenosis (PS), pulmonary atresia (PA), total or partial anomalous pulmonary venous return (TPAVR, PPAVR), interrupted aortic arch, transposition of the great arteries (TGA), and hypoplastic left heart syndrome (HLHS) (Micheletti, 2019;Pan et al, 2015).…”

Section: Congenital Heart Defectsmentioning

confidence: 99%

Genetic examination of congenital heart defects and non-syndromic intellectual disability

Zodanu

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Rare diseases are thought to affect a smaller number of people, but together they become a major health concern. Due to advancements in molecular techniques, early diagnosis is essential to the genetic cause of these diseases. This may improve medical care and the survival of affected individuals. Copy number variations or pathogenic single gene mutations are the cause of most of these disorders. Two main rare disease categories were in the focus of our research: congenital heart defects and non-syndromic intellectual disability. Genetic factors, including copy number variations (CNVs), play an important role in the development of CHDs. The most common CNVs are found on chromosome 22q11.2. The genomic instability of this region, caused by the eight low copy repeats (LCR A-H), may result in several recurrent and/or rare microdeletions and duplications, including the most common, ~3Mb large LCR A-D deletion (classical 22q.11.2 deletion syndrome, known as DiGeorge syndrome). Many patients with 22q11.2 CNVs, especially in the adult population may remain undiagnosed due to the high phenotypical variability of these CNVs. Therefore, we aimed to perform a systemic molecular genetic screening for 22q11.2 CNVs in the paediatric and adult patients of the Southern-Hungarian CHD Registry, regardless of the type of their CHDs. All the enrolled participants were cardiologically diagnosed with non-syndromic CHDs. A combination of multiplex ligation-dependent probe amplification, chromosomal microarray analysis and droplet digital PCR methods were used to comprehensively assess the detected 22q11.2 CNVs in overall 212 CHD-patients. Additionally, capillary sequencing was performed to detect variants in the TBX1 gene, a cardinal gene located in 22q11.2. Pathogenic CNVs were detected in 5.2% (11/212), VUS in 0.9% and benign CNVs in 1.8% of the overall CHD cohort. In patients with tetralogy of Fallot the rate of pathogenic CNVs was 17% (5/30). Sixty-four percent of all CNVs were typical proximal deletions (LCR A-D). However, nested (LCR A-B) and central deletions (LCR C-D), proximal (LCR A-D) and distal duplications (LCR D-E, LCR D-H, LCR E-H, LCR F-H) and rare combinations of deletions and duplications were also identified. Segregation analysis detected familial occurrence in 18% (2/11) of the pathogenic variants. Based on in-depth clinical information, a detailed phenotype–genotype comparison was performed. No pathogenic variant was identified in the TBX1 gene, which may question the ethiopathogenetic role of TBX1 mutations alone in the development of CHDs and DiGeorge syndrome. Our findings confirmed the previously described large phenotypic diversity in the 22q11.2 CNVs. MLPA proved to be a highly efficient and cost-effective genetic screening method for our CHD-cohort. Our results highlight the necessity for large-scale genetic screening of CHD-patients and the importance of early genetic diagnosis in their adequate clinical management. In the frame of genetic examinations in X-linked non-syndromic intellectual disabilities we identified a novel mutation in PAK3 gene in a 14-years-old boy. PAK3 is a p21-activated serine/threonine kinase, an essential downstream effector in the Rho-GTPase signaling. It has been reported to play an important role in dendritic spine morphogenesis, synaptic network dynamics and neuronal plasticity. PAK3 gene mutations has been described to cause non-syndromic X-linked intellectual disability with neuropsychiatric disorders and dysmorphic but not distinctive features in the affected individuals. Our patient presented with cognitive impairment, autistic features, temper tantrums, episodic aggression, prior episodes of convulsions, spina bifida occulta, mildly dysmorphic facial features and microcephaly without structural brain abnormalities. Exome sequencing identified a novel hemizygous missense variant in the kinase domain of PAK3 gene (c.976G>C; p.V326L) which is interspecies highly conserved. In silico variant predictions, in silico functional modeling and segregation analysis in the family supported the ethiopathogenicity of the variant. Our detailed clinical findings together with the data from the few reported families allowed further insight in the phenotype of the disease, to expand the mutation spectrum of PAK3 gene and support the importance of PAK3 in neural synaptic function.

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Congenital Heart Disease Classification, Epidemiology, Diagnosis, Treatment, and Outcome

Cited by 11 publications

References 118 publications

Insights into Cardiovascular Defects and Cardiac Epigenome in the Context of COVID-19

Insights into Cardiovascular Defects and Cardiac Epigenome in the Context of COVID-19

Disease-related malnutrition in congenital 27 heart disease: what is the risk and impact on patient’s outcomes?

Genetic examination of congenital heart defects and non-syndromic intellectual disability

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