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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 -
Frontiers in Cardiovascular Medicine 2024Neonatal (enteroviral) myocarditis (NM/NEM) is rare but unpredictable and devastating, with high mortality and morbidity. We report a case of neonatal coxsackievirus B...
BACKGROUND
Neonatal (enteroviral) myocarditis (NM/NEM) is rare but unpredictable and devastating, with high mortality and morbidity. We report a case of neonatal coxsackievirus B (CVB) fulminant myocarditis successfully treated with veno-arterial extracorporeal membrane oxygenation (V-A ECMO).
CASE PRESENTATION
A previously healthy 7-day-old boy presented with fever for 4 days. Progressive cardiac dysfunction (weak heart sounds, hepatomegaly, pulmonary edema, ascites, and oliguria), decreased left ventricular ejection fraction (LVEF) and fractional shortening (FS), transient ventricular fibrillation, dramatically elevated creatine kinase-MB (405.8 U/L), cardiac troponin I (25.85 ng/ml), and N-terminal pro-brain natriuretic peptide (NT-proBNP > 35,000 ng/L), and positive blood CVB ribonucleic acid indicated neonatal CVB fulminating myocarditis. It was refractory to mechanical ventilation, fluid resuscitation, inotropes, corticosteroids, intravenous immunoglobulin, and diuretics during the first 4 days of hospitalization (DOH 1-4). The deterioration was suppressed by V-A ECMO in the next 5 days (DOH 5-9), despite the occurrence of bilateral grade III intraventricular hemorrhage on DOH 7. Within the first 4 days after ECMO decannulation (DOH 10-13), he continued to improve with withdrawal of mechanical ventilation, LVEF > 60%, and FS > 30%. In the subsequent 4 days (DOH 14-17), his LVEF and FS decreased to 52% and 25%, and further dropped to 37%-38% and 17% over the next 2 days (DOH 18-19), respectively. There was no other deterioration except for cardiomegaly and paroxysmal tachypnea. Through strengthening fluid restriction and diuresis, and improving cardiopulmonary function, he restabilized. Finally, notwithstanding NT-proBNP elevation (>35,000 ng/L), cardiomegaly, and low LVEF (40%-44%) and FS (18%-21%) levels, he was discharged on DOH 26 with oral medications discontinued within 3 weeks postdischarge. In nearly three years of follow-up, he was uneventful, with interventricular septum hyperechogenic foci and mild mitral/tricuspid regurgitation.
CONCLUSIONS
Dynamic cardiac function monitoring via real-time echocardiography is useful for the diagnosis and treatment of NM/NEM. As a lifesaving therapy, ECMO may improve the survival rate of patients with NM/NEM. However, the "honeymoon period" after ECMO may cause the illusion of recovery. Regardless of whether the survivors of NM/NEM have undergone ECMO, close long-term follow-up is paramount to the prompt identification and intervention of abnormalities.
PubMed: 38836060
DOI: 10.3389/fcvm.2024.1364289 -
The International Journal of... May 2024A 43-year-old nigerian woman presented to cardiac intensive care unit for acute pulmonary edema with severe mitral regurgitation in a hypertrophic non obstructive...
A 43-year-old nigerian woman presented to cardiac intensive care unit for acute pulmonary edema with severe mitral regurgitation in a hypertrophic non obstructive cardiomyopathy for prevalent hypertrophy of posterior and lateral walls. A transesophageal echocardiography showed the isolated cleft of posterior mitral leaflet. In literature deep and multiple mitral valve clefts are described in patients with hypertrophic obstructive cardiomyopathy undergoing septal myectomy, including possible true posterior clefts, but they are not associated with the premyectomy severity of mitral regurgitation or jet direction, and do not result in surgical MV intervention. The hypertrophic cardiomyopathy is not confined to cardiac muscle but rather involves the mitral valve with structural abnormalities. In this case surgical correction of cleft was the solution for several mitral regurgitation.
PubMed: 38814497
DOI: 10.1007/s10554-024-03123-w -
Journal of Clinical Ultrasound : JCU May 2024Hypertrophic obstructive cardiomyopathy (HOCM) is clinically symptomatic and prone to malignant arrhythmias and sudden cardiac death (SCD). Currently, an effective...
BACKGROUND
Hypertrophic obstructive cardiomyopathy (HOCM) is clinically symptomatic and prone to malignant arrhythmias and sudden cardiac death (SCD). Currently, an effective treatment is surgical resection of the hypertrophic ventricular septum to relieve the left ventricular outflow tract (LVOT) obstruction and mitral insufficiency. Our center performs an innovative, minimally invasive right infra-axillary thoracotomy for transaortic septal myectomy. Minimally invasive procedures rely more on perioperative transesophageal echocardiography (TEE). This study aimed to explore the use of echocardiography during the perioperative period of surgical intervention for HOCM.
METHODS
Between August 2021 and April 2022, 27 patients with HOCM underwent cardiac surgery at our hospital. Minimally invasive transaortic septal resection (Morrow myectomy) was performed from the right axilla. The extent of myectomy and need for mitral valve repair were based on perioperative TEE assessment and surgical findings. The demographic parameters and clinical data of patients were recorded. The cardiopulmonary bypass time, aortic cross-clamp, and mechanical ventilation times were calculated. TEE was used to assess ventricular wall thickening and anatomical abnormalities of mitral regurgitation, assist in intravenous catheterization, and assess the postoperative gradients of the LVOT.
RESULTS
Among the 27 patients with HOCM who underwent transaortic septal myectomy by minimally invasive right infra-axillary thoracotomy, 16 had LVOT obstruction, 2 had mid-LV obstruction, and 9 had both LVOT and mid-LV involvement. TEE provides information about the fine structure of the LV cavity and the etiology of the obstruction. In all cases, LVOT obstruction and mitral valve systolic anterior motion were resolved postoperatively, and the degree of mitral regurgitation was significantly reduced.
CONCLUSION
Perioperative echocardiography provides valuable information regarding the complex etiology of LVOT obstruction during minimally invasive right infra-axillary thoracotomy for transaortic septal myectomy. It helps determine the extent of septal resection and assess the need for concomitant mitral valve repair.
PubMed: 38813840
DOI: 10.1002/jcu.23732 -
European Cardiology 2024Mitral regurgitation (MR) is one of the most common valvular abnormalities worldwide and can be subdivided into primary and secondary causes. Atrial MR consists of a... (Review)
Review
Mitral regurgitation (MR) is one of the most common valvular abnormalities worldwide and can be subdivided into primary and secondary causes. Atrial MR consists of a novel type of secondary MR (SMR), most often observed in patients with AF and heart failure with preserved ejection fraction. The main pathophysiological mechanism of atrial MR is mitral valve annular dilatation. Recently published studies have highlighted the clinical significance of left atrium (LA) evaluation in the early diagnosis and prognosis of patients with primary MR. However, there are little data regarding the role of the LA in SMR. The present literature review aims to elucidate the use of the echocardiographic parameters regarding LA evaluation in the prognosis prediction and therapeutic strategy of patients with SMR.
PubMed: 38807855
DOI: 10.15420/ecr.2023.47 -
Neurological Sciences : Official... May 2024Myophosphorylase deficiency, also known as McArdle disease or Glycogen Storage Disease type V (GSD-V), is an autosomal recessive metabolic myopathy that results in... (Review)
Review
INTRODUCTION AND METHODS
Myophosphorylase deficiency, also known as McArdle disease or Glycogen Storage Disease type V (GSD-V), is an autosomal recessive metabolic myopathy that results in impaired glycogen breakdown in skeletal muscle. Despite being labelled as a "pure myopathy," cardiac involvement has been reported in some cases, including various cardiac abnormalities such as electrocardiographic changes, coronary artery disease, and cardiomyopathy. Here, we present a unique case of a 72-year-old man with GSD-V and both mitral valvulopathy and coronary artery disease, prompting a systematic review to explore the existing literature on cardiac comorbidities in McArdle disease.
RESULTS
Our systematic literature revision identified 7 case reports and 1 retrospective cohort study. The case reports described 7 GSD-V patients, averaging 54.3 years in age, mostly male (85.7%). Coronary artery disease was noted in 57.1% of cases, hypertrophic cardiomyopathy in 28.5%, severe aortic stenosis in 14.3%, and genetic dilated cardiomyopathy in one. In the retrospective cohort study, five out of 14 subjects (36%) had coronary artery disease.
DISCUSSION AND CONCLUSION
Despite McArdle disease primarily affecting skeletal muscle, cardiac involvement has been observed, especially coronary artery disease, the frequency of which was moreover found to be higher in McArdle patients than in the background population in a previous study from a European registry. Exaggerated cardiovascular responses during exercise and impaired glycolytic metabolism have been speculated as potential contributors. A comprehensive cardiological screening might be recommended for McArdle disease patients to detect and manage cardiac comorbidities. A multidisciplinary approach is crucial to effectively manage both neurological and cardiac aspects of the disease and improve patient outcomes. Further research is required to establish clearer pathophysiological links between McArdle disease and cardiac manifestations in order to clarify the existing findings.
PubMed: 38802689
DOI: 10.1007/s10072-024-07600-x -
Kocuria kristinae-Induced Infective Endocarditis: Unveiling an Emerging Threat in Clinical Practice.Cureus Apr 2024Infective endocarditis (IE) remains a formidable challenge in clinical practice due to several causative agents, each presenting with unique diagnostic and therapeutic...
Infective endocarditis (IE) remains a formidable challenge in clinical practice due to several causative agents, each presenting with unique diagnostic and therapeutic dilemmas. , a coagulase-negative, catalase-positive Gram-positive coccus, has recently emerged as an uncommon but increasingly recognized pathogen in the cause of IE. This case report highlights the clinical characteristics, risk factors, and challenges associated with -induced IE. We conducted a comprehensive literature review and identified several case reports on as a causative agent. Due to its indolent nature and the subtle presentation of symptoms, along with its ability to form biofilms, delayed diagnosis of is often seen, thereby emphasizing the need for heightened clinical suspicion. The predisposing factors for infection include underlying cardiac abnormalities, prosthetic heart valves, and immunocompromised states. Additionally, antimicrobial susceptibility patterns and optimal treatment strategies remain unclear, warranting further investigation. This abstract presents the case of a 75-year-old male with IE secondary to on a prosthetic mitral valve. We aim to highlight the need for increased awareness among clinicians to facilitate early recognition and prompt initiation of targeted therapeutic interventions. Unraveling the intricacies of pathogenicity is crucial for refining diagnostic approaches and optimizing patient outcomes.
PubMed: 38800330
DOI: 10.7759/cureus.58979 -
Journal of the American Society of... May 2024The mechanism of left ventricular outflow tract obstruction (LVOTO) is complex in hypertrophic cardiomyopathy (HCM). We aimed to evaluate the impact of mitral valve...
OBJECTIVE
The mechanism of left ventricular outflow tract obstruction (LVOTO) is complex in hypertrophic cardiomyopathy (HCM). We aimed to evaluate the impact of mitral valve geometry on LVOTO by echocardiography.
MATERIALS AND METHODS
The study population comprised 177 consecutive patients with HCM. Morphological findings of left ventricular hypertrophy and LVOTO-related abnormalities were assessed by comprehensive transthoracic echocardiography. Aortomitral angle, mitral leaflet length, and coaptation height were measured and analyzed at rest. Multivariable stepwise forward logistic regression analysis was performed to identify geometric predictors of LVOTO.
RESULTS
One hundred thirty-seven patients had an LVOT gradient ≥30 mm Hg. Multivariable logistic regression showed that aortomitral angle (odds ratio [OR], 0.89; 95% CI, 0.83-0.95, P < .001), coaptation height (OR, 1.96; 95% CI, 1.41-2.72, P < .001), and accessory mitral valve chordae tendineae (OR, 13.1; 95% CI, 4.32-39.95; P < .001) were independently associated with LVOTO. Receiver operating characteristic analysis showed that the area under the curve of mitral coaptation height was higher (area under the curve = 0.815) than the other 2 indicators (P < .05).
CONCLUSION
Mitral coaptation height, aortomitral angle, and accessory mitral valve chordae tendineae were important predictors of SAM and LVOTO in HCM independent of septal hypertrophy.
PubMed: 38754749
DOI: 10.1016/j.echo.2024.05.002