Tratamiento intervencionista de las complicaciones mecánicas en el infarto agudo de miocardio / Interventional management of mechanical complications in acute myocardial infarction

Las complicaciones mecánicas posteriores a un infarto agudo de miocardio no son comunes, pero tienen consecuencias dramáticas y potencialmente letales. El ventrículo izquierdo se ve afectado con mayor frecuencia y las complicaciones se clasifican, según su inicio después del evento primario, en tempranas (de días a semanas después) y tardías (de semanas hasta años). A pesar de que la incidencia de estas complicaciones se ha reducido en la era de la angioplastia primaria —allá donde está disponible—, la mortalidad sigue siendo significativa y, aunque estas complicaciones se consideran poco frecuentes, suponen una emergencia y son una importante causa de mortalidad a corto plazo. Los dispositivos de asistencia circulatoria mecánica, en especial implantados de forma mínimamente invasiva y sin necesidad de toracotomía, han mejorado el pronóstico de estos pacientes al facilitar su estabilidad hasta que se pueda aplicar el tratamiento definitivo. Por otro lado, la creciente experiencia en intervenciones percutáneas para el tratamiento de la rotura del septo interauricular y la insuficiencia mitral aguda se ha asociado con una aparente mejora en sus resultados que aún precisa de la obtención de evidencia prospectiva (AU)

Mechanical complications following a myocardial infarction are uncommon, but with dramatic consequences and high mortality. The left ventricle is the most often affected cardiac chamber and complications can be classified according to the timing in early (from days to first weeks) or late complications (from weeks to years). Despite the decrease in the incidence of these complications thank to primary percutaneous coronary intervention programs —wherever this option is available—, the mortality is still significant and these infrequent complications are an emergent scenario and one of the most important causes of mortality at short term in patients with myocardial infarction. Mechanical circulatory support devices, especially if minimally invasive implantation is used avoiding thoracotomy, have improved the prognosis of these patients by providing stability until definitive treatment can be applied. On the other hand, the growing experience in transcatheter interventions for the treatment of ventricular septal rupture or acute mitral regurgitation has been associated to an improvement in their results, even though prospective clinical evidence is still missing (AU)

Discordant congenital heart defects in monochorionic twins: Risk factors and proposed pathophysiology.

A six-fold increase in congenital heart defects (CHD) exists among monochorionic (MC) twins compared to singleton or dichorionic twin pregnancies. Though MC twins share an identical genotype, discordant phenotypes related to CHD and other malformations have been described, with reported rates of concordance for various congenital anomalies at less than 20%. Our objective was to characterize the frequency and spectrum of CHD in a contemporary cohort of MC twins, coupled with genetic and clinical variables to provide insight into risk factors and pathophysiology of discordant CHD in MC twins. Retrospective analysis of all twins receiving prenatal fetal echocardiography at a single institution from January 2010 -March 2020 (N = 163) yielded 23 MC twin pairs (46 neonates) with CHD (n = 5 concordant CHD, n = 18 discordant CHD). The most common lesions were septal defects (60% and 45.5% in concordant and discordant cohorts, respectively) and right heart lesions (40% and 18.2% in concordant and discordant cohorts, respectively). Diagnostic genetic testing was abnormal for 20% of the concordant and 5.6% of the discordant pairs, with no difference in rate of abnormal genetic results between the groups (p = 0.395). No significant association was found between clinical risk factors and development of discordant CHD (p>0.05). This data demonstrates the possibility of environmental and epigenetic influences versus genotypic factors in the development of discordant CHD in monochorionic twins.

Twelve Years of Complete Atrioventricular Septal Defect Repair.

BACKGROUND: Surgical repair is the standard treatment for complete atrioventricular septal defect. At our institution, this repair is performed by single patch, modified single patch or two patch techniques, according to the surgeon preferences and the surgical anatomy of the defect. The goal of this study was to evaluate our results from the last twelve years. METHODS: From June 2006 to June 2018, 81 children with complete atrioventricular septal defect (without tetralogy of Fallot or unbalanced ventricles) were submitted to surgical repair at our institution. Data from all patients was retrospectively collected and evaluated. RESULTS: The average age was 6.9 ± 13.7 months and 84% had Down syndrome. Eighty percent were symptomatic and 6 patients were previously submitted to pulmonary artery banding. No more that mild left atrioventricular valve insufficiency was found in 84% and 89% of the patients, at discharge and follow-up, respectively. Small residual septal defects were present in 27% at discharge; during follow-up, 41% of these closed spontaneously. Pulmonary hypertension at discharge and follow-up appeared in 3.7% and 1.3%, respectively. Permanente pacemaker was implanted in 3 patients. Left ventricle outflow tract obstruction was found in 3 patients and 2 needed surgical correction. At follow-up (40 ± 38 months), 90% of the patients presented NYHA functional class I. No significant differences in the main repair outcomes were found between techniques, with the exception of small residual septal defects, although the groups were unmatched. CONCLUSIONS: Overall and regardless of the technique used for the repair of complete AVSD, good early and midterm outcomes were achieved.

Cardiovascular disease in Down syndrome.

PURPOSE OF REVIEW: In the last 40 years, with a better understanding of cardiac defects, and with the improved results of cardiac surgery, the life expectancy of persons with Down syndrome has significantly increased. This review article reports on advances in knowledge of cardiac defects and cardiovascular system of persons with trisomy 21. RECENT FINDINGS: New insights into the genetics of this syndrome have improved our understanding of the pathogenetic mechanisms of cardiac defects. Recent changes in neonatal prevalence of Down syndrome suggest a growing number of children with cardiac malformations, in particular with simple types of defects. Ethnic and sex differences of the prevalence of specific types of congenital heart disease (CHD) have also been underlined. A recent study confirmed that subclinical morphologic anomalies are present in children with trisomy 21, also in the absence of cardiac defects, representing an internal stigma of Down syndrome. The results of cardiac surgery are significantly improved in terms of immediate and long-term outcomes, but specific treatments are indicated in relation to pulmonary hypertension. Particular aspects of the cardiovascular system have been described, clarifying a reduced sympathetic response to stress but also a 'protection' from atherosclerosis and arterial hypertension in these patients. SUMMARY: Continuing dedication to clinical and basic research studies is essential to further improve survival and the quality of life from childhood to adulthood of patients with trisomy 21.

Prevalence of congenital heart diseases in children with Down syndrome in Mansoura, Egypt: a retrospective descriptive study.

BACKGROUND: The pattern and risk factors for congenital heart diseases (CHD) in children with Down syndrome (DS) vary over time. OBJECTIVES: To update knowledge of the prevalence, types, trends and associated factors for CHD in children with DS in the Egyptian Delta. DESIGN: A retrospective hospital record-based descriptive study. SETTING: A tertiary care center in Mansoura, Egypt during a period of 14 years from 2003 up to 2016. PATIENTS AND METHODS: We studied children with genetically proven DS. Relevant sociodemographic factors, medical history, clinical examination, karyotype and echocardiographic data were statistically analyzed. MAIN OUTCOME MEASURES: Prevalence, types and risk factors of CHD in DS. RESULTS: The prevalence of overall, isolated and multiple CHD in 1720 children with DS were 36.9%, 29% and 8%, respectively. Isolated defects accounted for 78.4% of all CHD. Ventricular septal defect, atrioventricular septal defect and atrial septal defect were the most frequent isolated defects. There was a downward trend in the prevalence of overall CHD (from 56.2% to 25.0%) and isolated CHD (from 56.2% to 19.8%). The logistic regression model predicted 65.7% of CHD and revealed that passive maternal smoking, lack of folic acid/multivitamin supplementation and parental consanguinity were the independent predictors of CHD in children with DS with adjusted odds ratios of 1.9, 1.8 and 1.9, respectively. CONCLUSION: More than one-third of children with DS have CHD with ventricular septal defect, which is the most common. Avoidance of passive maternal smoking and consanguineous marriage together with maternal folic acid supplementation could contribute to further reduction of CHD in children with DS. LIMITATIONS: Single-center study and retrospective.

Double-orifice mitral valve associated with atrioventricular canal defects.

A 4 year-old male presented with effort dyspnea, and was diagnosed as atrioventricular canal defects. This finding was confirmed by open heart surgery, and a congenital double orifice mitral valve was discovered. The septal defect was closed but the double orifice mitral valve was respected because of the absence of hemodynamic disturbance. We report this case with review of literature.

Genome-Wide Association Study of Down Syndrome-Associated Atrioventricular Septal Defects.

The goal of this study was to identify the contribution of common genetic variants to Down syndrome-associated atrioventricular septal defect, a severe heart abnormality. Compared with the euploid population, infants with Down syndrome, or trisomy 21, have a 2000-fold increased risk of presenting with atrioventricular septal defects. The cause of this increased risk remains elusive. Here we present data from the largest heart study conducted to date on a trisomic background by using a carefully characterized collection of individuals from extreme ends of the phenotypic spectrum. We performed a genome-wide association study using logistic regression analysis on 452 individuals with Down syndrome, consisting of 210 cases with complete atrioventricular septal defects and 242 controls with structurally normal hearts. No individual variant achieved genome-wide significance. We identified four disomic regions (1p36.3, 5p15.31, 8q22.3, and 17q22) and two trisomic regions on chromosome 21 (around PDXK and KCNJ6 genes) that merit further investigation in large replication studies. Our data show that a few common genetic variants of large effect size (odds ratio >2.0) do not account for the elevated risk of Down syndrome-associated atrioventricular septal defects. Instead, multiple variants of low-to-moderate effect sizes may contribute to this elevated risk, highlighting the complex genetic architecture of atrioventricular septal defects even in the highly susceptible Down syndrome population.

Maternal Hyperglycemia Directly and Rapidly Induces Cardiac Septal Overgrowth in Fetal Rats.

Cardiac septal overgrowth complicates 10-40% of births from diabetic mothers, but perplexingly hyperglycemia markers during pregnancy are not reliably predictive. We thus tested whether fetal exposure to hyperglycemia is sufficient to induce fetal cardiac septal overgrowth even in the absence of systemic maternal diabetes. To isolate the effects of hyperglycemia, we infused glucose into the blood supply of the left but not right uterine horn in nondiabetic pregnant rats starting on gestational day 19. After 24 h infusion, right-sided fetuses and dams remained euglycemic while left-sided fetuses were moderately hyperglycemic. Echocardiograms in utero demonstrated a thickened cardiac septum among left-sided (glucose-exposed, 0.592 ± 0.016 mm) compared to right-sided (control, 0.482 ± 0.016 mm) fetuses. Myocardial proliferation was increased 1.5 ± 0.2-fold among left-sided compared to right-sided fetuses. Transcriptional markers of glucose-derived anabolism were not different between sides. However, left-sided fetuses exhibited higher serum insulin and greater JNK phosphorylation compared to controls. These results show that hyperglycemic exposure is sufficient to rapidly induce septal overgrowth even in the absence of the myriad other factors of maternal diabetes. This suggests that even transient spikes in glucose may incite cardiac overgrowth, perhaps explaining the poor clinical correlation of septal hypertrophy with chronic hyperglycemia.

Ambient air pollution and traffic exposures and congenital heart defects in the San Joaquin Valley of California.

BACKGROUND: Congenital anomalies are a leading cause of infant morbidity and mortality. Studies suggest associations between environmental contaminants and some anomalies, although evidence is limited. METHODS: We used data from the California Center of the National Birth Defects Prevention Study and the Children's Health and Air Pollution Study to estimate the odds of 27 congenital heart defects with respect to quartiles of seven ambient air pollutant and traffic exposures in California during the first 2 months of pregnancy, 1997-2006 (n = 822 cases and n = 849 controls). RESULTS: Particulate matter < 10 microns (PM10 ) was associated with pulmonary valve stenosis [adjusted odds ratio (aOR)Fourth Quartile = 2.6] [95% confidence intervals (CI) 1.2, 5.7] and perimembranous ventricular septal defects (aORThird Quartile = 2.1) [95% CI 1.1, 3.9] after adjusting for maternal race/ethnicity, education and multivitamin use. PM2.5 was associated with transposition of the great arteries (aORThird Quartile = 2.6) [95% CI 1.1, 6.5] and inversely associated with perimembranous ventricular septal defects (aORFourth Quartile = 0.5) [95% CI 0.2, 0.9]. Secundum atrial septal defects were inversely associated with carbon monoxide (aORFourth Quartile = 0.4) [95% CI 0.2, 0.8] and PM2.5 (aORFourth Quartile = 0.5) [95% CI 0.3, 0.8]. Traffic density was associated with muscular ventricular septal defects (aORFourth Quartile = 3.0) [95% CI 1.2, 7.8] and perimembranous ventricular septal defects (aORThird Quartile = 2.4) [95% CI 1.3, 4.6], and inversely associated with transposition of the great arteries (aORFourth Quartile = 0.3) [95% CI 0.1, 0.8]. CONCLUSIONS: PM10 and traffic density may contribute to the occurrence of pulmonary valve stenosis and ventricular septal defects, respectively. The results were mixed for other pollutants and had little consistency with previous studies.

Periconceptional paternal smoking and the risk of congenital heart defects: a case-control study.

BACKGROUND: Maternal smoking during pregnancy has been consistently associated with an increased risk of congenital heart defects (CHDs). However, few studies have reported the association between paternal smoking during pregnancy and CHDs among offspring. This report presents the first case-control study to investigate the possible association between periconceptional paternal smoking and CHDs in China. METHODS: From February 2010 through October 2011, 284 case fetuses with nonsyndromic CHDs and 422 control fetuses with no birth defects were recruited. The mothers of cases and controls were interviewed regarding whether the fathers of fetuses smoked and avoided the mothers while smoking during the periconceptional period. An unconditional logistic regression was used to calculate the adjusted odds ratios (AORs) and 95% confidence intervals (CIs) while controlling for potential confounders. RESULTS: Light paternal smoking increased the risk of isolated conotruncal heart defects (AOR, 2.23; 95% CI, 1.05, 4.73). Medium paternal smoking seemed to be associated with septal defects (AOR, 2.04; 95% CI, 1.05, 3.98) and left ventricular outflow tract obstructions (AOR, 2.48; 95% CI, 1.04, 5.95). Heavy paternal smoking was also associated with isolated conotruncal heart defects (AOR, 8.16; 95% CI, 1.13, 58.84) and left ventricular outflow tract obstructions (AOR, 13.12; 95% CI, 2.55, 67.39). Paternal smoking with no avoidance behavior was associated with an increased risk of these CHDs subtypes. CONCLUSIONS: Periconceptional paternal smoking increased the risk of isolated conotruncal heart defects, septal defects and left ventricular outflow tract obstructions. The avoidance behavior of paternal smokers may decrease the risk of selected CHDs.

Uncommon acquired Gerbode defect following extensive bicuspid aortic valve endocarditis.

Gerbode defect is a rare type of left ventricle to right atrium shunt. It is usually congenital in origin, but acquired cases are also described, mainly following infective endocarditis, valve replacement, trauma or acute myocardial infarction. We report a case of a 50-year-old man who suffered an extensive and complex infective endocarditis involving a bicuspid aortic valve, the mitral-aortic intervalvular fibrosa and the anterior leaflet of the mitral valve. After dual valve replacement and annular reconstruction, a shunt between the left ventricle and the right atrium--Gerbode defect, and a severe leak of the mitral prosthesis were detected. Reintervention was performed with successful shunt closure with an autologous pericardial patch and paravalvular leak correction. No major complications occurred denying the immediate post-surgery period and the follow-up at the first year was uneventful.

Endoplasmic reticulum stress in maternal diabetes-induced cardiac malformations during critical cardiogenesis period.

BACKGROUND: Cardiac abnormalities, including atrioventricular (AV) septal defects (AVSDs), are the most common birth defects in diabetic embryopathy. The AV septum is derived from the endocardial cushions, which undergo development and remodeling during septation. The impact of maternal diabetes on these processes needs to be identified. Maternal diabetes disturbs the function of the endoplasmic reticulum (ER). The role of ER stress in cardiac malformation remains to be delineated to gain information for developing therapy. METHODS: Female mice were induced diabetic via intravenous injection of streptozotocin. Pregnant mice were made hyperglycemic at desired embryonic (E) days. AVSDs were examined histologically at E15.5. ER stress-associated factors were examined and quantified using immunohistochemical and immunoblot assays at E10.5. The role of ER stress in endocardial cell migration was investigated by treating endocardial cushion explants that were cultured in high glucose with an organic chaperone molecule, sodium 4-phenylbutyrate. RESULTS: The rate of AVSDs in the embryos that were exposed to maternal hyperglycemia during the period of endocardial cushion development was significantly higher than that in those during endocardial cushion remodeling. ER stress was increased in the hearts. Amelioration of ER stress restored endocardial cell migration under hyperglycemic conditions. CONCLUSIONS: The development, rather than remodeling, of the endocardial cushions is the cardiomorphogenic process that is susceptible to the insult of maternal hyperglycemia in the formation of AVSDs. Maternal diabetes increases ER stress in the developing heart. ER stress plays an essential role in mediating the effect of hyperglycemia on endocardial cell migration.

Very long-chain acyl CoA dehydrogenase deficiency which was accepted as infanticide.

Very-long-chain acyl-coenzyme A (CoA) dehydrogenase deficiency (VLCADD) (OMIM #201475) is an autosomal recessive disorder of fatty acid oxidation. Major phenotypic expressions are hypoketotic hypoglycemia, hepatomegaly, cardiomyopathy, myopathy, rhabdomyolysis, elevated creatinine kinase, and lipid infiltration of liver and muscle. At the same time, it is a rare cause of Sudden Infant Death Syndrome (SIDS) or unexplained death in the neonatal period [1-4]. We report a patient with VLCADD whose parents were investigated for infanticide because her three previous siblings had suddenly died after normal deliveries.

Transseptal puncture in situs inversus totalis using a conventional fluoroscopic approach.

Situs inversus totalis (SIT) is a congenital disorder characterized by mirror reversal of the thoracic and abdominal organs. The underlying cardiovascular malpositions complicate transseptal catheterization. In the present report, we present the case of a patient with SIT, where access in the morphologic left atrium was gained with conventional fluoroscopic approach without the use of intracardiac imaging modalities.

Digital necroses and vascular thrombosis in severe spinal muscular atrophy.

Infantile spinal muscular atrophy (SMA) caused by homozygous SMN1 gene deletions/mutations is characterized by neuronal loss and axonopathy of motor neurons. We report two unrelated patients with severe SMA type I who had only one SMN2 copy and developed ulcerations and necroses of the fingers and toes. Sural nerve biopsy was normal in patient 1, whose affected skin displayed necroses and thrombotic occlusions of small vessels. Corresponding to a mouse model and other patients with similar findings, we believe that severe survival motor neuron (SMN) deficiency may present as vasculopathy.

[Hyaluronan, embryogenesis and morphogenesis]. / Acide hyaluronique, embryogenèse et morphogenèse.

Hyaluronan is a major carbohydrate component of the extracellular matrix. Besides its structural role, it also appears to regulate cell transformation and migration during embryogenesis in vertebrates. Hyaluronan is synthesized by hyaluronan synthetases, transmembrane proteins expressed at several embryonic stages, as early as gastrulation. Inactivation or upregulation of hyaluronan synthetases elicits cardiac or skeletal development anomalies (atrioventricular septal defects caused by abnormal endocardial cushion formation, impaired chondrogenesis). Hyaluronidases degrade hyaluronan and interact with cell surface receptors involved in cell activation. Hyluronan binds not only extracellular matrix glycoproteins, but also cell surface receptors (CD44, RHAMM) also involved in cell signalling, differentiation and proliferation pathways. It facilitates migration and transformation and decreases contact inhibition. Hence, hyaluronan has a central regulating role during embryogenesis.

A postoperative Gerbode defect in aortic prosthesis endocarditis with non-typhoid Salmonella.

The Gerbode defect is a congenital shunt from the left ventricle to the right atrium. The type I defect (2) results in a direct shunt through a portion of the membranous septum, while a type II (indirect) defect occurs if the membranous septal defect lies below the attachment of the septal leaflet of the tricuspid valve. The shunt is directed towards the right atrium through a cleft or perforations of the septal leaflet. Acquired Gerbode defects have been identified in endocarditis, after mitral or aortic valve surgery, or may be post-traumatic. The case is presented of a 69-year-old woman with a postoperative Gerbode defect in association with aortic prosthetic endocarditis caused by non-typhoid Salmonella.

Uncommon acquired Gerbode defect (left ventricular to right atrial communication) following a tricuspid annuloplasty without concomitant mitral surgery.

Left ventricular (LV) to right atrial (RA) communication, also known as Gerbode defect, is very rare, usually congenital but sometimes also acquired. Cases of Gerbode defect have been reported after left valve surgery, usually valve replacement. We describe the first case of LV-RA communication following a tricuspid annuloplasty not combined to a left valve surgery. The case we report concerns a 73-year-old woman who underwent a double-valve surgery (pulmonary valve replacement and tricuspid annuloplasty) for symptomatic severe right heart failure due to post-endocarditis pulmonary valve regurgitation. A LV-RA shunt was discovered 1 year after surgery. This case report confirms the responsibility of a tricuspid annuloplasty in an acquired LV-RA shunt.