Identification of known and unknown genes associated with mitral valve prolapse using an exome slice methodology.

PURPOSE: Although a familial distribution has been documented, the genetic aetiology of mitral valve prolapse (MVP) is largely unknown, with only four genes identified so far: FLNA, DCHS1, DZIP1 and PLD1. The aim of this study was to evaluate the genetic yield in known causative genes and to identify possible novel genes associated with MVP using a heart gene panel based on exome sequencing. METHODS: Patients with MVP were referred for genetic counselling when a positive family history for MVP was reported and/or Barlow's disease was diagnosed. In total, 101 probands were included to identify potentially pathogenic variants in a set of 522 genes associated with cardiac development and/or diseases. RESULTS: 97 (96%) probands were classified as Barlow's disease and 4 (4%) as fibroelastic deficiency. Only one patient (1%) had a likely pathogenic variant in the known causative genes (DCHS1). However, an interesting finding was that 10 probands (11%) had a variant that was classified as likely pathogenic in six different, mostly cardiomyopathy genes: DSP (1×), HCN4 (1×), MYH6 (1×), TMEM67 (1×), TRPS1 (1×) and TTN (5×). CONCLUSION: Exome slice sequencing analysis performed in MVP probands reveals a low genetic yield in known causative genes but may expand the cardiac phenotype of other genes. This study suggests for the first time that also genes related to cardiomyopathy may be associated with MVP. This highlights the importance to screen these patients and their family for the presence of arrhythmias and of 'disproportionate' LV remodelling as compared with the severity of mitral regurgitation, unravelling a possible coexistent cardiomyopathy.

Bioprosthetic mitral valve thrombosis: the role of cardiac CT in diagnosis and guiding the management.

A patient in his 60s with a bioprosthetic aortic and mitral valve replacement presented with dyspnoea, tiredness and dizziness 2 years postoperatively. Transthoracic echocardiography showed mitral valve stenosis and increased pulmonary artery pressure suggesting bioprosthetic valve failure. Cardiac CT confirmed the diagnosis of bioprosthetic mitral valve thrombosis. Treatment with anticoagulation resulted in a remarkable improvement of the valve area and gradient and complete resolution of the thrombus. Herein, we report a case of rare bioprosthetic mitral valve thrombosis.

Double-chambered right ventricle in a patient with pulmonary atresia and ventricular septal defect.

Double-chambered right ventricle is a rare form of right ventricular outflow tract obstruction caused by anomalous hypertrophy of muscle bundles in right ventricle. Cases most often occur in children and rarely in adults. Most cases (80-90%) are associated with ventricular septal defect. We describe a case of pulmonary atresia and ventricular septal defect with double-chambered right ventricle. The interesting clinical findings, ECG, echocardiography and angiocardiography features are described here.

Unusual cause of severe transvalvular eccentric jet AR: early structure valve deterioration of Trifecta valves by flail leaflet undergoing valve-in-valve transcatheter aortic valve replacement.

The Trifecta tissue valve (Abbott, Illinois, USA) is an externally mounted bovine pericardial aortic valve (AV) prosthesis with adequate haemodynamic performance and better early results than another option. However, concerns have been raised about its durability. Recently, reports have emerged about an increased incidence of early structural valve failure after Trifecta implantation, where leaflet tear(s) with dehiscence along the stent post was the primary mode of early failure. In this article, we present the case of a patient in her 70s, 7 years after AV replacement with a Trifecta valve, who developed progressive dyspnoea. Physical examination revealed signs of chronic severe aortic regurgitation (AR). The initial transthoracic echocardiogram showed severe transvalvular AR, but the aetiology could not be determined. Cardiac computed tomography (CT) revealed a flail non-coronary cusp of the Trifecta bioprosthetic valve without vegetation. After discussion, we concluded that our patient was suitable for valve-in-valve transcatheter aortic valve replacement (ViV TAVR).

Valve-in-Valve-in-Valve.

In the case of the degeneration of surgical aortic valve replacement (SAVR), the transcatheter aortic valve implantation (TAVI) has become the standard. However, these valves are also susceptible to deterioration. In such instances, a new TAVI implantation may be considered. We present the case of a patient with a SAVR who underwent two TAVI procedures, spaced 8 years apart. We discuss important practical aspects, including the risk of coronary obstruction and the final valve diameter.

Tricuspid valve infective endocarditis in disseminated gonococcal infection (DGI).

SummaryWe describe a case of culture-negative infective endocarditis due to Neisseria gonorrhoeae, where the application of metagenomics shotgun sequencing in blood played a pivotal role in elucidating the underlying aetiology, guiding targeted therapy and ultimately resulting in the patient's complete recovery. Beyond its immediate clinical impact, prompt treatment bears significant implications for public health. The utilisation of molecular testing emerges as a valuable strategy to enhance diagnostic accuracy, particularly in cases involving fastidious organisms that are infrequently associated with infective endocarditis.

Rare and potentially lethal case of a round lesion in the lung.

A pulmonary venous aneurysm (PVA) is extremely rare. A PVA can be either congenital or acquired. Possible symptoms include thoracic pain, dyspnoea, haemoptysis and palpitations but can also occur asymptomatically. Treatment can be conservative or surgical depending on growth and risk of rupture or development of mitral insufficiency, symptoms and thrombus formation. Only a few cases have been described in the literature. A recent case study and a literature review are described below.

Hypereosinophilic syndrome: a rare cause of ST-elevation myocardial infarction and thrombus formation on the aortic valve.

We present a case of a man in his 30s presenting with ST-segment elevation myocardial infarction and eosinophilia. The patient underwent thrombus aspiration and initially echocardiographic evaluation was normal. The patient was discharged after 2 days, but was hospitalised again after 6 days. Echocardiographic evaluation now revealed a thrombus formation on the aortic valve. Laboratory data revealed increasing eosinophilia, and treatment with high-dosage corticosteroids and hydroxyurea was initiated as eosinophilic disease with organ manifestations could not be precluded. Eosinophils normalised and the patient was discharged again. The combination of hypereosinophilia and absence of infection, rheumatological disorders and malignancy, led to reactive or idiopathic hypereosinophilic syndrome being the most plausible diagnoses. The patient was closely monitored in the cardiology and haematology outpatient clinics. Echocardiographic evaluation, performed 6 weeks after the patient was discharged, showed significant regression in the size of the thrombus mass.

Heyde's syndrome: a challenging case of severe aortic stenosis and gastrointestinal bleeding.

We present the case of an elderly man with a history of diastolic congestive heart failure, severe aortic stenosis and atrial fibrillation, who presented with fatigue, weakness, coffee ground emesis and black tarry stool. Haemoglobin was 68 g/L. Lactate dehydrogenase was elevated at 1038. Evaluation by cardiology and gastroenterology specialists revealed reflux oesophagitis and a mild hiatal hernia on oesophagogastroduodenoscopy, normal colonoscopy and small bowel series without obstruction. Capsule endoscopy identified angiodysplasia in the small intestine.The patient was diagnosed with Heyde's syndrome based on the triad of severe aortic stenosis, gastrointestinal bleeding from angiodysplasia and acquired von Willebrand syndrome. The patient underwent transcatheter aortic valve replacement, resulting in the resolution of symptoms.Heyde's syndrome represents a challenging clinical entity requiring a multidisciplinary approach for accurate diagnosis and management. Early recognition, prompt intervention and interdisciplinary collaboration are crucial in optimising patient outcomes.

Adult-onset acute rheumatic fever with chorea and carditis.

Rheumatic fever is a major cause of cardiovascular morbidity and mortality in low-income and middle-income countries, and it usually occurs at a young age. Adult-onset acute rheumatic fever is a rare condition and usually represents a recurrence of childhood-onset disease. We report a case of an elderly man presenting with rheumatic carditis and rheumatic chorea subsequently diagnosed with adult-onset rheumatic fever.

Three-dimensional printing for complex cardiac reoperations: optimising Gerbode defect repairs.

Cardiac fistulas present diagnostical and therapeutical challenges due to their variability in size, shape and pathway. Three-dimensional printing is increasingly used to provide a tactile representation that aids in preoperative planning and patient education. We present the case of a female in her 60s who developed a fistula between the left ventricle, right atrium and coronary sinus 2 years after bioprosthetic valve replacement. We used three-dimensional modelling to better understand her cardiac anatomy and optimise our surgical approach. She was discharged home without deficit following an uneventful postoperative course. Three-dimensional printing can improve patient care through tangible demonstration, preoperative planning and trainee education.

Challenges of managing anomalous mitral arcade with severe mitral regurgitation and hydrops fetalis in infants.

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.

Usefulness of newer testing modalities for the accurate diagnosis of culture-negative endocarditis.

A woman in her 80s with a history of congestive heart failure, atrial arrhythmia treated with atrioventricular nodal ablation and permanent pacemaker (PPM) placement, mitral valve disease status post-repair and colon cancer status post-treatment was admitted for further evaluation of severe dyspnea on exertion. Imaging revealed vegetation on both the prosthetic mitral valve and the PPM lead. Blood cultures were collected without growth, so a cell-free DNA Karius test was performed, which can detect over 1000 pathogens and has a sensitivity between 87% and 93%. Testing returned positive results for Streptococcus bovis subspecies pasteurianus Given its association with colorectal cancer, abdominal imaging and an endoscopic biopsy were performed, showing recurrent colonic malignancy. The patient underwent a right colon resection prior to cardiac intervention. This report describes the clinical application of the novel cell-free DNA Karius test, which led to the diagnosis of recurrent colon cancer associated with S. pasteurianus endocarditis.

Carcinoid heart disease: a potentially fatal complication of carcinoid syndrome.

Carcinoid heart disease is a unique and serious cardiac complication of the neuroendocrine tumour that affects the right side of the heart, especially the tricuspid and pulmonic valves, eventually causing right heart failure. We present a middle-aged man with a history of well-differentiated neuroendocrine tumours of the small intestine with extensive metastases to the liver, mesentery and spine who is receiving monthly octreotide therapy. He presented with generalised fatigue, severe ascites and worsening dyspnoea. Both the transthoracic echocardiography and transoesophageal echocardiography revealed severe tricuspid and pulmonic regurgitations. He was considered a poor surgical candidate, underwent transcatheter pulmonic valve replacement with two bioprosthetic valve-in-valve implantations and was discharged in a stable condition.

Obstructive valve thrombosis after transcatheter aortic valve replacement (TAVR) in Sneddon syndrome without antiphospholipid antibodies.

We study a case of early obstructive leaflet thrombosis following a transcatheter aortic valve replacement (TAVR) in a woman in her 50s with a history of Sneddon syndrome treated by antiplatelet therapy. The thrombosis regressed following the use of vitamin K antagonists (VKA) for 6 weeks. Subacute TAVR leaflet thrombosis reappeared after discontinuation of VKA use. The main takeaways of this study were the detection of high-risk patients that could benefit from systematic post-TAVR anticoagulation and the early diagnosis of obstructive leaflet thrombosis associated with elevated transvalvular gradient, whose management differs from that of subclinical leaflet thrombosis.

Role of 3D transoesophageal echocardiography in correct diagnosis of congenital isolated double orifice mitral valve in a young adult misdiagnosed as rheumatic heart disease.

Double orifice mitral valve (DOMV) is an extremely rare congenital anomaly of the mitral valve (MV) wherein the MV orifice divides into two separate orifices by an accessory fibrous band.Isolated DOMV is a rarity and is often discovered incidentally. It may be associated with other congenital conditions wherein it is identified in early childhood. Its prevalence and prognostic relevance in adulthood remain unclear. DOMV patients may be asymptomatic or have symptoms due to mitral stenosis or regurgitation. We present a case of an asymptomatic young adult initially diagnosed with rheumatic mitral stenosis. However, after a thorough echocardiographic assessment, including three-dimensional transesophageal echocardiography, the accurate diagnosis of DOMV was made.

Non-typhoidal Salmonella enteritidis prosthetic valve endocarditis.

In this case, we present a rare cause of prosthetic valve endocarditis. A man in his 80s presented to the emergency department with fever and diarrhoea. The patient underwent a transcatheter aortic valve replacement 17 years earlier. A negative PCR result in faeces for Salmonella and positive blood cultures with Salmonella gave rise to the suspicion of an intravascular Salmonella infection, which was confirmed with a positron emission tomography. Due to the low prevalence of Salmonella endocarditis, there is no consensus on the most effective treatment. Guidelines recommend early surgery and long-term antimicrobial treatment in endocarditis with Gram-negative bacteria. In this case, surgery was not deemed feasible given the patient his advanced age and multiple comorbidities. Despite treatment with intravenous antibiotics, the patient succumbed to progression of endocarditis 37 days after admission.

Atypical case of infective endocarditis.

A man in his late 40s presented to the emergency department with generalised tiredness and breathlessness. He was a known case of chronic obstructive pulmonary disease and also had a recent history of COVID-19. At arrival, he was in respiratory failure. Blood culture grew Streptococcus parasanguinis, a commensal gram-positive bacterium and a primary coloniser of the human oral cavity. Echocardiogram revealed the presence of a flail mitral valve with vegetation suggestive of infective endocarditis. Although biomarkers of inflammation/infection had improved, he continued to be in cardiac failure, and hence he underwent mitral valve replacement with a mechanical valve. This case is unique in many ways; the patient was young, had a history of COVID-19, had native valve infective endocarditis and presented with type 2 respiratory failure and not the usual 'typical' manifestations of infective endocarditis. He had refractory heart failure requiring early valve replacement. His blood culture grew S. parasanguinis, a rare cause for infective endocarditis.

Pulmonary homograft failure presents as abdominal ascites.

Ascites is a condition typically attributed to liver disease but can be cardiac in aetiology as well. We report of an atypical case of pulmonary homograft failure status-post the Ross-Yacoub procedure as an underlying cause of anasarca. A man in his mid-30s with a history of congenital heart disease presented with abdominal distension and exercise intolerance. His prior history was relevant for congenital bicuspid aortic valve with critical aortic stenosis. Abdomen and pelvis CT revealed a grossly dilated inferior vena cava while transthoracic echocardiogram showed severe homograft pulmonary stenosis and regurgitation. Further investigation with cardiac MRI demonstrated severe pulmonary valve stenosis and regurgitation with significant tricuspid regurgitation and right ventricular dilatation. The transcatheter stent in the right ventricular to pulmonary artery conduit followed by transcatheter valve replacement, which resulted in full resolution of his presenting symptoms.

Chronic inflammatory pulmonary artery lesion causing right pulmonary artery stenosis 15 years post Blalock-Taussig shunt ligation.

Discrete central endovascular pulmonary arterial lesions raise clinical concern for malignancy such as primary pulmonary artery sarcoma. We present a case of a female in her late teens who had an obstructive mid right pulmonary artery lesion found on follow-up imaging 15 years after Tetralogy of Fallot repair. The lesion was in the vicinity of a previously ligated Blalock-Taussig shunt and causing right PA stenosis with delayed perfusion to the right lung, and a flow-related distal left PA aneurysm. The lesion was excised and confirmed histologically to be inflammatory in nature. Intraoperative microbiology demonstrated growth of the Kytococcus species, and she was managed with 6 weeks of intravenous antibiotics, with a full recovery.