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Heart Rhythm Jun 2024In patients with narrow QRS complex, both ventricular and biventricular pacing is associated with increased cardiac morbidity and mortality. This risk is not decreased...
BACKGROUND
In patients with narrow QRS complex, both ventricular and biventricular pacing is associated with increased cardiac morbidity and mortality. This risk is not decreased by ventricular pacing avoidance algorithms which cause non-physiologic atrioventricular delays.
OBJECTIVE
To report outcomes in patients with narrow QRS complex, when paced complex is in normal range and physiologic atrioventricular delays are programmed.
METHODS
In 196 patients with QRS duration of 92 ± 10 msec, permanent pacing was done at site of His bundle electrogram. The pacemakers were then programmed to maintain physiologic AV delays and increase heart rates in response to exercise. Patients received usual care and were followed for 3-years.
RESULTS
The paced complex exhibited a delta wave and the ventricular activation time, QRS axis and lead-I voltage remained in normal range. Physiologic programming resulted in His bundle pacing burden of 92%. In patients with decreased ejection fraction, there was significant improvement in left ventricular function, left ventricular dilatation and mitral regurgitation (p <0.003). In patients with normal ejection fraction, left ventricular function remained normal without new valvular abnormalities. The 3-year all-cause mortality was 10%, and there was no increase in heart failure admissions.
CONCLUSION
In patients with narrow QRS complex, when paced QRS morphology is maintained in normal range and atrio-ventricular dyssynchrony is avoided, His bundle pacing is associated with a low all-cause mortality and improvement in abnormal echocardiographic parameters. The paced QRS morphology and physiologic atrioventricular delays may be important factors to evaluate in future trials of conduction system pacing.
PubMed: 38908462
DOI: 10.1016/j.hrthm.2024.06.027 -
Advances in Experimental Medicine and... 2024Hypoplastic left heart syndrome (HLHS) is a severe congenital cardiovascular malformation characterized by hypoplasia of the left ventricle, aorta, and other structures...
Hypoplastic left heart syndrome (HLHS) is a severe congenital cardiovascular malformation characterized by hypoplasia of the left ventricle, aorta, and other structures on the left side of the heart. The pathologic definition includes atresia or stenosis of both the aortic and mitral valves. Despite considerable progress in clinical and surgical management of HLHS, mortality and morbidity remain concerns. One barrier to progress in HLHS management is poor understanding of its cause. Several lines of evidence point to genetic origins of HLHS. First, some HLHS cases have been associated with cytogenetic abnormalities (e.g., Turner syndrome). Second, studies of family clustering of HLHS and related cardiovascular malformations have determined HLHS is heritable. Third, genomic regions that encode genes influencing the inheritance of HLHS have been identified. Taken together, these diverse studies provide strong evidence for genetic origins of HLHS and related cardiac phenotypes. However, using simple Mendelian inheritance models, identification of single genetic variants that "cause" HLHS has remained elusive, and in most cases, the genetic cause remains unknown. These results suggest that HLHS inheritance is complex rather than simple. The implication of this conclusion is that researchers must move beyond the expectation that a single disease-causing variant can be found. Utilization of complex models to analyze high-throughput genetic data requires careful consideration of study design.
Topics: Humans; Genetic Predisposition to Disease; Hypoplastic Left Heart Syndrome; Phenotype
PubMed: 38884762
DOI: 10.1007/978-3-031-44087-8_60 -
Advances in Experimental Medicine and... 2024Hypoplastic left heart syndrome (HLHS) is a complex congenital heart defect characterized by several abnormalities that result in a significantly underdeveloped left...
Hypoplastic left heart syndrome (HLHS) is a complex congenital heart defect characterized by several abnormalities that result in a significantly underdeveloped left ventricle and severe hypoplasia of the ascending aorta, often leading to retrograde perfusion. These abnormalities include aortic valve atresia or severe stenosis, accompanied by a severely hypoplastic aortic valve annulus (Fig. 59.1). Mitral valve atresia, hypoplasia, and/or stenosis with a hypoplastic valve annulus with or without a ventricular septal defect can also contribute to the development of HLHS. Endocardial fibroelastosis and sinusoids may be present as well. The interatrial septum can either be closed or the foramen ovale severely stenotic. Other malformations, such as anomalous pulmonary venous drainage or variations of the systemic veins, may coexist. It is also common to observe a coarctation of the aorta in these cases.
Topics: Humans; Infant, Newborn; Hypoplastic Left Heart Syndrome
PubMed: 38884761
DOI: 10.1007/978-3-031-44087-8_59 -
BMJ Case Reports Jun 2024Anomalous mitral arcade (MA) is a rare congenital anomaly. We report a case of MA in a newborn who presented with hydrops fetalis due to severe mitral regurgitation....
Anomalous mitral arcade (MA) is a rare congenital anomaly. We report a case of MA in a newborn who presented with hydrops fetalis due to severe mitral regurgitation. After birth, he developed severe respiratory failure, congestive heart failure and airway obstruction because an enlarged left atrium from severe mitral regurgitation compressed the distal left main bronchus. There is limited experience in surgical management of this condition in Thailand, and the patient's mitral valve was too small for replacement. Therefore, he was treated with medication to control heart failure and supported with positive pressure ventilation to promote growth. We have followed the patient until the current time of writing this report at the age of 2 years, and his outcome is favourable regarding heart failure symptoms, airway obstruction, growth and development. This case describes a challenging experience in the non-surgical management of MA with severe regurgitation, which presented at birth.
Topics: Humans; Mitral Valve Insufficiency; Hydrops Fetalis; Male; Infant, Newborn; Mitral Valve; Echocardiography; Heart Failure; Heart Defects, Congenital; Positive-Pressure Respiration
PubMed: 38866580
DOI: 10.1136/bcr-2023-259272 -
Circulation. Cardiovascular Imaging Jun 2024Prominent multi-scallop systolic leaflet displacement toward the left atrium (atrialization) is typically observed in bileaflet mitral valve prolapse (MVP) with mitral...
BACKGROUND
Prominent multi-scallop systolic leaflet displacement toward the left atrium (atrialization) is typically observed in bileaflet mitral valve prolapse (MVP) with mitral annular disjunction. We hypothesized that mitral leaflet atrialization is associated with an underlying left atrial (LA) myopathy characterized by progressive structural and functional abnormalities, irrespective of mitral regurgitation (MR) severity.
METHODS
We identified 334 consecutive patients with MVP, no prior atrial fibrillation, and comprehensive clinical and echocardiographic data. LA function was assessed by LA reservoir strain, LA function index, and LA emptying fraction. We also classified the stage of LA remodeling based on LA enlargement and LA reservoir strain (stage 1: no remodeling; stage 2: mild remodeling; stage 3: moderate remodeling; and stage 4: severe remodeling). The primary end point was the composite risk of sudden arrhythmic death, heart failure hospitalization, or the new onset of atrial fibrillation.
RESULTS
Bileaflet MVP with no or mild MR had a lower LA reservoir strain (=0.04) and LA function index (<0.001) compared with other MVP subtypes. In multivariable linear regression adjusted for cardiovascular risk factors and MR ≥moderate, bileaflet MVP remained significantly associated with lower LA function parameters (all <0.05). There was a significant increase in the risk of events as the LA reservoir strain and LA remodeling stage increased (<0.001). In multivariable analysis, stage 4 of LA remodeling remained significantly associated with a higher risk of events compared with stage 1 (hazard ratio, 6.09 [95% CI, 1.69-21.9]; =0.006).
CONCLUSIONS
In a large MVP registry, bileaflet involvement is associated with reduced LA function regardless of MR severity, suggesting a primary atriopathy in this MVP subtype. Abnormal LA function, particularly when assessed through a multiparametric approach, is linked to a higher risk of cardiovascular events and may improve risk stratification in MVP, even in those without significant MR.
Topics: Humans; Mitral Valve Prolapse; Female; Male; Aged; Middle Aged; Atrial Function, Left; Atrial Remodeling; Heart Atria; Atrial Fibrillation; Risk Factors; Severity of Illness Index; Retrospective Studies; Mitral Valve; Echocardiography; Mitral Valve Insufficiency; Predictive Value of Tests
PubMed: 38860362
DOI: 10.1161/CIRCIMAGING.123.016319 -
The Annals of Thoracic Surgery Jun 2024Left ventricular outflow tract (LVOT) obstruction in hypertrophic obstructive cardiomyopathy (HCM) is caused by a constellation of abnormalities. We reviewed outcomes of...
BACKGROUND
Left ventricular outflow tract (LVOT) obstruction in hypertrophic obstructive cardiomyopathy (HCM) is caused by a constellation of abnormalities. We reviewed outcomes of a comprehensive approach to correct these abnormalities during surgery.
METHODS
This is a single-institution study of HCM patients undergoing septal myectomy (2016-2023). New York Heart Association classification and most recent echocardiogram that estimated LVOT gradient and mitral valve function were tracked.
RESULTS
We included 103 patients with mean age of 54 (IQR 40-67) and common comorbidities being hypertension (50%) and atrial fibrillation (25%). On average, the pre-procedure resting echocardiogram showed LVOT gradient of 36.4 mmHg and moderate/severe mitral regurgitation in 50.5% of patients. All patients received septal myectomy and associated abnormalities contributing to LVOT obstruction were addressed. Elongation of the anterior leaflet of the mitral valve was typically treated with papillary muscle realignment (72%). Aberrant papillary muscle heads and elongated secondary chordae tendineae contributing to systolic anterior motion were resected (66%). Myocardial bands including apicoseptal bands contributing to LVOT obstruction were resected (68%). With average follow up of 4 years, 91% of patients were considered New York Heart Association Class I or II. Long term echocardiographic follow up showed a mean peak LVOT gradient of 11 mmHg (IQR 4-13). Only one patient had more than mild mitral regurgitation.
CONCLUSIONS
A comprehensive surgical approach to HCM that addresses the entire constellation of abnormalities associated with HCM, including mitral valve anterior leaflet elongation, aberrant or displaced mitral valve subvalvular apparatus, and myocardial bands, leads to outstanding mid-term outcomes.
PubMed: 38851415
DOI: 10.1016/j.athoracsur.2024.05.024 -
European Journal of Case Reports in... 2024Alagille syndrome (ALGS) is a multisystem disorder involving at least three systems among the liver, heart, skeleton, face, and eyes. Common cardiac associations include...
BACKGROUND
Alagille syndrome (ALGS) is a multisystem disorder involving at least three systems among the liver, heart, skeleton, face, and eyes. Common cardiac associations include pulmonary artery stenosis/atresia, atrial septal defect (ASD), ventricular septal defect (VSD) and tetralogy of fallot (ToF). Coarctation of aorta (CoA), renal and intracranial arteries are commonly involved vessels in Alagille syndrome. We present two cases with rare cardiovascular manifestations of Alagille syndrome. .
CASE 1
A 25-year-old female with a history of Alagille syndrome presented to the cardiologist office for progressive exertional dyspnoea, orthopnoea, and palpitations. She was tachycardiac on examination and had an apical diastolic rumble. A transthoracic echocardiogram (TTE) showed a left ventricular ejection fraction (LVEF) of 60% and parachute mitral valve (PMV) with severe mitral stenosis. A transoesophageal echocardiogram (TOE) showed insertion of chordae into the anterolateral papillary muscle, severe mitral stenosis with a valve area of 0.7 cm. She was referred to a congenital heart disease specialist and underwent robotic mitral valve replacement with improvement in her symptoms.
CASE 2
A 27-year-old female with known Alagille syndrome and resistant hypertension presented to the cardiologist office due to progressive exertional dyspnoea for a year. She was hypertensive and had a new 2/6 systolic ejection murmur along the left upper sternal border. TTE revealed an LVEF of 60% and pulmonary artery pressure of 19 mmHg. A CoA was suspected distal to the left subclavian artery due to a peak gradient of 38 mmHg. Cardiac magnetic resonance (CMR) imaging ruled out CoA, and diffuse narrowing of the descending thoracic aorta measuring 13-14 mm in diameter was noted. The patient was referred to a congenital heart disease specialist for further management.
CONCLUSION
PMV presenting as mitral stenosis and mid-aortic syndrome are not commonly described anomalies in association with Alagille syndrome. TTE, TOE and CMR played a key role in diagnosis and management of these patients.
LEARNING POINTS
Alagille syndrome (ALGS) is a complex multisystem disorder involving the liver, heart, skeleton, face, and eyes. Cardiovascular involvement occurs in up to 95% of the patients.Common cardiac associations include pulmonary artery stenosis/atresia, atrial septal defect (ASD), ventricular septal defect (VSD) and tetralogy of fallot (ToF).A parachute mitral valve (PMV) presenting as mitral stenosis and mid-aortic syndrome is not commonly described anomalies in association with ALGS. Here, we present such rare cases.
PubMed: 38846669
DOI: 10.12890/2024_004545 -
Clinical Epigenetics Jun 2024Tatton-Brown-Rahman syndrome (TBRS) is a rare congenital genetic disorder caused by autosomal dominant pathogenic variants in the DNA methyltransferase DNMT3A gene....
Tatton-Brown-Rahman syndrome (TBRS) is a rare congenital genetic disorder caused by autosomal dominant pathogenic variants in the DNA methyltransferase DNMT3A gene. Typical TBRS clinical features are overgrowth, intellectual disability, and minor facial anomalies. However, since the syndrome was first described in 2014, a widening spectrum of abnormalities is being described. Cardiovascular abnormalities are less commonly reported but can be a major complication of the syndrome. This article describes a family of three individuals diagnosed with TBRS in adulthood and highlights the variable expression of cardiovascular features. A 34-year-old proband presented with progressive aortic dilatation, mitral valve (MV) regurgitation, left ventricular (LV) dilatation, and ventricular arrhythmias. The affected family members (mother and brother) were diagnosed with MV regurgitation, LV dilatation, and arrhythmias. Exome sequencing and computational protein analysis suggested that the novel familial DNMT3A mutation Ser775Tyr is located in the methyltransferase domain, however, distant from the active site or DNA-binding loops. Nevertheless, this bulky substitution may have a significant effect on DNMT3A protein structure, dynamics, and function. Analysis of peripheral blood cfDNA and transcriptome showed shortened mononucleosome fragments and altered gene expression in a number of genes related to cardiovascular health and of yet undescribed function, including several lncRNAs. This highlights the importance of epigenetic regulation by DNMT3A on cardiovascular system development and function. From the clinical perspective, we suggest that new patients diagnosed with congenital DNMT3A variants and TBRS require close examination and follow-up for aortic dilatation and valvular disease because these conditions can progress rapidly. Moreover, personalized treatments, based on the specific DNMT3A variants and the different pathways of their function loss, can be envisioned in the future.
Topics: Humans; DNA Methyltransferase 3A; Adult; Male; DNA (Cytosine-5-)-Methyltransferases; Female; Pedigree; Cardiomyopathies; Aortic Diseases; Exome Sequencing; Intellectual Disability; Mutation
PubMed: 38845031
DOI: 10.1186/s13148-024-01686-y