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Revista Portuguesa de Cardiologia :... 2014The authors report the case of a 53-year-old man, with a long-standing history of mild mitral stenosis, admitted for worsening fatigue. Transthoracic echocardiography...
The authors report the case of a 53-year-old man, with a long-standing history of mild mitral stenosis, admitted for worsening fatigue. Transthoracic echocardiography (limited by poor image quality) showed mitral annular calcification, leaflets that were difficult to visualize and an estimated mitral valve area of 1.8 cm(2) by the pressure half-time method. However, elevated mean transmitral and right ventricle/right atrium gradients were identified (39 and 117 mmHg, respectively). This puzzling discrepancy in the echocardiographic findings prompted investigation by transesophageal echocardiography, which revealed an echogenic structure adjacent to the mitral annulus, causing severe obstruction (effective orifice area 0.7 cm(2)). The suspicion of supravalvular mitral ring was confirmed during surgery. Following ring resection and mitral valve replacement there was significant improvement in the patient's clinical condition and normalization of the left atrium/left ventricle gradient. Supravalvular mitral ring is an unusual cause of congenital mitral stenosis, characterized by an abnormal ridge of connective tissue on the atrial side of the mitral valve, which often obstructs mitral valve inflow. Few cases have been reported, most of them in children with concomitant congenital abnormalities. Diagnosis of a supravalvular mitral ring is challenging, since it is very difficult to visualize in most diagnostic tests. It was the combination of clinical and various echocardiographic findings that led us to suspect this very rare condition, enabling appropriate treatment, with excellent long-term results.
Topics: Diagnostic Errors; Humans; Male; Middle Aged; Mitral Valve; Mitral Valve Stenosis
PubMed: 25108561
DOI: 10.1016/j.repc.2014.03.002 -
Journal of the American College of... Jun 1992In mitral atresia with a large left ventricle, the tricuspid valve is either straddling and biventricular or entirely left ventricular. To learn how to assess the...
In mitral atresia with a large left ventricle, the tricuspid valve is either straddling and biventricular or entirely left ventricular. To learn how to assess the identity of the tricuspid valve in such cases 15 heart specimens were examined as well as the echocardiograms of 10 living patients. When the right ventricular sinus was underdeveloped (11 cases), a straddling tricuspid valve was present; when it was absent (14 cases), the tricuspid valve was entirely left ventricular. Regardless of biventricular or exclusively left ventricular attachments, the tricuspid valve was tricommissural (at postmortem examination or on echocardiography) in 22 cases (88%). Its chordal attachments showed considerable variations but were usually paraseptal or on the ventricular septal crest or conal septum. When biventricular, the tricuspid valve straddled through an inlet ventricular septal defect. Clinical or anatomic evidence, or both, of tricuspid regurgitation was present in 14 cases (56%). It is concluded that 1) the identity of the atrioventricular valves is reflected in their chordal attachments more accurately than in their leaflet morphology and depends primarily on the type of ventricular loop present; 2) as a rule, the tricuspid valve is right-sided in D-looped and left-sided in L-looped ventricles; 3) valve identity expressed as the number and position of the papillary muscle attachments is generally recognizable echocardiographically and can be used to diagnose the type of ventricular loop that is present; and 4) the presence and degree of tricuspid regurgitation deserve attention when choosing optimal palliative surgery.
Topics: Adult; Cardiac Catheterization; Child; Child, Preschool; Echocardiography; Female; Heart Defects, Congenital; Humans; Infant; Infant, Newborn; Male; Mitral Valve; Tricuspid Valve; Tricuspid Valve Insufficiency
PubMed: 1593052
DOI: 10.1016/0735-1097(92)90619-x -
The West Indian Medical Journal Jun 2015Tricuspid atresia is a rare cyanotic congenital heart disease, first described by Kreysig (1817), has an incidence of 1% to 5%. It is incompatible with longevity without...
Tricuspid atresia is a rare cyanotic congenital heart disease, first described by Kreysig (1817), has an incidence of 1% to 5%. It is incompatible with longevity without surgical intervention. Glenn (1958) was successful in using a superior vena cava to right pulmonary artery anastomosis. Fontan (1958) was successful in separating the right and left cardiac circulation; this is the surgical method of choice, with death of 17% by 20 years of age. The Fontan circulation has burdens of multisystem abnormalities, including ventricular dysfunction (72%), dysrhythmias (40%) and renal, hepatic, gastrointestinal and pulmonary complications. The index case is the oldest documented report of tricuspid atresia with rudimentary right ventricle and concordant ventriculo-arterial connections, 18 years post Glen only, from two years of age. She is asymptomatic, of high intellect, never used medications and is now functioning at New York Heart Association (NYHA) I-II, at 20 years of age. Her survival and function was secondary to an innate large atrial and ventricular communication with normal left ventricle, mitral, aortic and pulmonary valves, indicating Fontan may not be needed in all structural anatomic cases of tricuspid atresia.
PubMed: 26426189
DOI: 10.7727/wimj.2014.272 -
The Journal of Thoracic and... Apr 2018
Topics: Aortic Valve; Bicuspid Aortic Valve Disease; Heart Valve Diseases; Humans; Mitral Valve; Reoperation
PubMed: 29370916
DOI: 10.1016/j.jtcvs.2017.12.105 -
Journal of Cardiovascular Development... Dec 2021Common arterial trunk (CAT) is a rare congenital heart disease that is commonly included into the spectrum of conotruncal heart defects. CAT is rarely associated with...
Common arterial trunk (CAT) is a rare congenital heart disease that is commonly included into the spectrum of conotruncal heart defects. CAT is rarely associated with functionally univentricular hearts, and only few cases have been described so far. Here, we describe the anatomical characteristics of CAT associated with a univentricular heart diagnosed in children and fetuses referred to our institution, and we completed the anatomical description of this rare condition through an extensive review of the literature. The complete cohort ultimately gathered 32 cases described in the literature completed by seven cases from our unit (seven fetuses and one child). Four types of univentricular hearts associated with CAT were observed: tricuspid atresia or hypoplastic right ventricle in 16 cases, mitral atresia or hypoplastic left ventricle in 12 cases, double-inlet left ventricle in 2 cases, and unbalanced atrioventricular septal defect in 9 cases. Our study questions the diagnosis of CAT as the exclusive consequence of an anomaly of the wedging process, following the convergence between the embryonic atrioventricular canal and the common outflow tract. We confirm that some forms of CAT can be considered to be due to an arrest of cardiac development at the stages preceding the convergence.
PubMed: 34940530
DOI: 10.3390/jcdd8120175 -
European Heart Journal. Cardiovascular... Oct 2018Mitral valve (MV) abnormalities are recognized features of hypertrophic cardiomyopathy (HCM), and there is preliminary evidence suggesting they are intrinsic phenotypic...
AIMS
Mitral valve (MV) abnormalities are recognized features of hypertrophic cardiomyopathy (HCM), and there is preliminary evidence suggesting they are intrinsic phenotypic manifestations of sarcomere mutations, present in mutation carriers without left ventricular (LV) hypertrophy (subclinical HCM). However, further study is required to characterize the nature of these changes and their functional impact. Thus, we performed comprehensive echocardiographic analysis of MV structure and function on a genotyped population.
METHODS AND RESULTS
MV and papillary muscle echocardiographic parameters were measured in 192 genotyped individuals, including 50 overt HCM, 79 subclinical HCM, and 63 mutation-negative, healthy relatives as normal controls. Compared to controls, subclinical HCM subjects had elongated anterior MV leaflets relative to LV end-diastolic volume index (0.57 ± 0.02 vs. 0.51 ± 0.02 mm/mL/m2, P = 0.013) and anteriorly displaced papillary muscles [decreased papillary-septal separation (31.1 ± 0.7 vs. 34.2 ± 0.9 mm, P = 0.004) and relative antero-posterior position ratio of the papillary muscles (0.67 ± 0.01 vs. 0.71 ± 0.01, P = 0.011]. Similar findings were identified comparing overt HCM to controls. These MV changes were associated with an increased prevalence of systolic anterior motion (SAM) of the MV amongst subclinical HCM subjects.
CONCLUSIONS
Sarcomere mutations are associated with primary abnormalities of the MV apparatus, specifically excess anterior leaflet length relative to LV cavity size and anterior displacement of the papillary muscles; both features predisposing to SAM. These abnormalities appear to be early phenotypic consequences of sarcomere mutations, observed in mutation carriers with normal LV wall thickness.
Topics: Adult; Cardiomyopathy, Hypertrophic; Echocardiography; Female; Heart Valve Diseases; Heterozygote; Humans; Male; Middle Aged; Mitral Valve; Mutation; Papillary Muscles; Sarcomeres; Young Adult
PubMed: 30052928
DOI: 10.1093/ehjci/jey095 -
Turk Kardiyoloji Dernegi Arsivi : Turk... Jul 2021Mitral annular disjunction (MAD) is a structural abnormality defined as the separation of the ventricular myocardium between the mitral valve annulus and the left atrial...
Mitral annular disjunction (MAD) is a structural abnormality defined as the separation of the ventricular myocardium between the mitral valve annulus and the left atrial wall. It is present in some patients with mitral valve prolapse (MVP) and is associated with papillary muscle fibrosis and ventricular arrhythmia. Although it is easy to diagnose, it can be overlooked in daily practice. This study presents the case of a 42-year-old patient who was admitted to the cardiology clinic with complaints of palpitation and syncope. The patient was diagnosed with bileaflet MVP, MAD, and severe mitral regurgitation using transthoracic echocardiography and cardiac magnetic resonance imaging, in which ventricular tachycardia disappeared following subsequent surgical repair.
Topics: Adult; Arrhythmias, Cardiac; Echocardiography; Electrocardiography; Female; Fibrosis; Humans; Magnetic Resonance Imaging; Mitral Valve; Mitral Valve Insufficiency; Mitral Valve Prolapse; Papillary Muscles; Remission, Spontaneous; Tachycardia, Ventricular
PubMed: 34308877
DOI: 10.5543/tkda.2021.04501 -
Journal of Clinical Medicine Aug 2023We started with the experience of thrombus formation in the native aorta of a 3-year-old male child with hypoplastic left heart syndrome (HLHS) and severely hypoplastic...
Native Aortic Root Thrombosis in Hypoplastic Left Heart Syndrome: An Unusual Presentation (Soon after Atrial Septal Stenting) of a Relatively Unusual Complication-Experience and Literature Review with an Outlook to Diagnosis and Management.
We started with the experience of thrombus formation in the native aorta of a 3-year-old male child with hypoplastic left heart syndrome (HLHS) and severely hypoplastic but patent mitral and aortic valves after Glenn palliation, which occurred soon after left heart decompression by percutaneous stenting of the atrial septum. The diagnosis was incidental, with the child completely asymptomatic, and progressively subsided in a few days with heparin infusion and chronic warfarin therapy. We reviewed the incidence, diagnosis, and management of native aortic thrombosis in HLHS after different stages of Fontan palliation through a systematic literature search. In all 32 cases, native aortic thrombosis in HLHS was found. The HLHS anatomic subtypes included mitral stenosis/aortic stenosis (fourteen cases or 45.2%), mitral stenosis/aortic atresia (eleven cases or 35.5%), and mitral atresia/aortic atresia (four cases or 12.9%). The age at diagnosis ranged from 13 days to 18 years. Clinical presentation varied from incidental findings, chest pain and/or electrocardiographic abnormalities, cardiac arrest, and transient ischemic attack. Diagnosis was feasible in most of the cases with only transthoracic echocardiography. Mostly (59.4%), patients were treated with anticoagulation, while others underwent surgical (18.7%), direct (12.5%), or systemic (9.3%) thrombolysis. Transplant-free survival was 56.2%, and fatal events occurred in 25%. Major events occurred in 26.3% of those treated with anticoagulation, in 33.3% of patients treated with surgical/systemic thrombolysis, and in 100% of patients treated with direct thrombolysis. In summary, native aortic thrombosis in HLHS may occur at different ages, with a wide spectrum of presentation from incidental finding to a sudden major event. Diagnosis is feasible with transthoracic echocardiography, and management with anticoagulation is effective despite the incidence of major events remaining high.
PubMed: 37629399
DOI: 10.3390/jcm12165357 -
The Journal of Thoracic and... Apr 1994We conducted a retrospective study of 78 patients who underwent palliative reconstructive operation for hypoplastic left heart syndrome representing an entire...
We conducted a retrospective study of 78 patients who underwent palliative reconstructive operation for hypoplastic left heart syndrome representing an entire consecutive experience between 1983 and 1991 to identify predictors of mortality that might enable more appropriate triage of patients to either reconstruction or transplantation. Twenty-nine patients had aortic atresia, mitral atresia; 18 had aortic stenosis, mitral stenosis; 20 had aortic atresia and mitral stenosis; and 11 had miscellaneous forms of hypoplastic left heart syndrome. There were 29 hospital deaths (37%). A worst preoperative pH (p = 0.01) and immediate preoperative pH (p = 0.03) less than the median were predictors of hospital mortality. The anatomic subgroup aortic atresia, mitral stenosis (p = 0.06) had a possible increased hospital mortality. One patient was lost to follow-up. The Kaplan-Meier survival estimate among hospital survivors was 34% at 3 years and 25% at 5 years. The anatomic subgroup aortic atresia, mitral atresia (p = 0.02) had a worse late outcome (11% 3-year survival) whereas the subgroup aortic stenosis, mitral stenosis (p = 0.04; 76% 3-year survival) had a better late outcome. There were no other significant predictors of late survival other than immediate prerepair pH (p = 0.05). Interpretation of this experience is complicated by the large number of different surgical techniques used for both first-stage neonatal reconstruction and the Fontan procedure plus introduction of the bidirectional Glenn shunt as an intermediate step midway through the experience. Nevertheless in this time frame and with the variety of techniques used, this experience demonstrates that patients with aortic atresia, mitral atresia, particularly those who have been very acidotic in the neonatal period, are least likely to do well with the reconstructive approach to hypoplastic left heart syndrome and are the most appropriate subgroup to be directed to transplantation. Patients with aortic stenosis, mitral stenosis have an excellent late outcome with the reconstructive approach.
Topics: Boston; Cause of Death; Follow-Up Studies; Heart Defects, Congenital; Humans; Infant; Infant, Newborn; Multivariate Analysis; Palliative Care; Retrospective Studies; Survival Analysis; Syndrome
PubMed: 7512677
DOI: No ID Found -
Journal of the American College of... Dec 2003We sought to highlight the clinical, morphologic, and pathogenetic features in patients with a cleft mitral valve (MV).
OBJECTIVES
We sought to highlight the clinical, morphologic, and pathogenetic features in patients with a cleft mitral valve (MV).
BACKGROUND
Few studies have addressed the morphologic features of cleft MV and the outcome of these patients. The pathogenetic features, including the developmental relation to an atrioventricular (AV) septal defect, remain unclear.
METHODS
We reviewed the patients with cleft MV that were diagnosed by echocardiography since 1980. Patients with an AV canal, ventriculo-arterial discordance, and hypoplastic ventricles were excluded.
RESULTS
Twenty-two patients were identified at a median age of 0.5 years (range 0 to 10.6). In three patients, no chordal attachments of the cleft to the ventricular septum were seen. Ten patients had significant mitral regurgitation (MR), and three had subaortic obstruction by the cleft. Associated cardiac lesions and extracardiac features were present in 13 and 10 patients, respectively. During the median follow-up period of 1.5 years (range 0 to 11.8), two patients died of extracardiac causes, and one neonate died of severe subaortic obstruction. Surgical repair was performed in 10 patients at a median age of 5.2 years (range 1.3 to 10.6). Multivariate analysis showed no predictors for MV surgery. One patient was re-operated for mitral stenosis associated with aortic valve stenosis. Follow-up echocardiography demonstrated moderate MR in two unoperated patients and moderate MV stenosis in two operated patients.
CONCLUSIONS
A cleft of the MV comprises a wide spectrum. Important morphologic differences exist with an AV septal defect, although the two lesions may be pathogenetically related. Surgical repair always seems possible. Long-term echocardiographic follow-up is warranted.
Topics: Child; Child, Preschool; Echocardiography; Follow-Up Studies; Heart Defects, Congenital; Humans; Infant; Infant, Newborn; Mitral Valve; Mitral Valve Insufficiency; Pulmonary Subvalvular Stenosis; Treatment Outcome
PubMed: 14662264
DOI: 10.1016/j.jacc.2003.07.019