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PubMed1997

Unusual traits associated with Robinow syndrome.

We report on some members of two unrelated families showing the characteristic features of Robinow syndrome. In a consanguineous Kuwaiti family, the index case with Robinow syndrome showed some unusual features including severe IUGR, laxity of ligaments, hyperextensible joints, redundant skin folds, severe normocytic anaemia, repeated infection, increased percentage of total T cells and CD4 positive population, reduced percentage of CD8 positive cells, and EMG abnormality. In a Pakistani family with a high degree of multigenerational consanguinity, a single case with the Robinow phenotype also had congenital heart disease, mainly involving the right side of the heart, with pulmonary stenosis, tricuspid atresia, ASD, VSD, double outlet right ventricle, and right atrial isomerism. This report suggests that the disease profile of Robinow syndrome may be extended to accommodate the unusual traits mentioned above. The association of the Robinow phenotype with congenital heart disease in case 2 of this report is consistent with the previously reported finding that congenital heart disease, particularly involving the right side of the heart, may be a prominent component of Robinow syndrome in a subset of patients.

Abnormalities, Multiple↗
PubMed1993

MR and CT diagnosis of carcinoid heart disease.

This report describes findings present on magnetic resonance (MR) imaging and computed tomography (CT) in a patient with carcinoid heart disease. Major abnormalities included thickening and immobility of the tricuspid valve leaflets and disturbed flow patterns indicative of tricuspid stenosis and regurgitation demonstrated with cine MR. While echocardiography is usually the initial imaging modality in patients with carcinoid heart disease, other modalities such as MR and CT may provide correlative or supplemental information.

Carcinoid Heart Disease↗
PubMedDate not supplied

[Congenital cardiopathies in the newborn].

Ten years experience in newborn congenital cardiac malformations with severe hemodynamic changes is reported. The anatomic diagnosis was made at necropsy (85%) or by cardiac catheterization and angiocardiography (15%). One hundred and twenty-six cases were found in which aortic valve atresia or stenosis, tricuspid atresia, cardiac anomalies associated to visceral heterotaxy, tetralogy of Fallot, aortic coartation, endocardial cushion defect, ventricular septal defect, total anomalous pulmonary venous return and pulmonary atresia with intact ventricular septum were the most common malformations. They presented with either cardiac insufficiency or hypoxia and acidosis. The principal anatomic features of these cases were discussed and the associated malformations in other systems was noted.

Female↗
PubMed2004

[Patent foramen ovale--demographic, clinical and echocardiographic characteristics].

UNLABELLED: Patent foramen ovale (PFO) represents the most common persistent abnormality of fetal origin. The aim of the study was to analyze the incidence and characteristics of PFO and to assess PFO as the risk factor of paradoxical embolism. 945 consecutive pts (442F and 503M aged 13-85, mean 53.02 +/- 14.42 years) in whom TEE was performed and flow through PFO was detected in basal conditions (colour-Doppler) and/or during provocation (Valsalva/cough manoeuvre) with contrast (saline infusion) at the period 1998-2002 was retrospectively analyzed. 183 pt had a history of systemic embolisation (SE) or transient ischemic attack (TIA). PFO was diagnosed [PFO(+)] in 57 pts (6%)-22F, 35M aged 14-77 years, mean 52.44 +/- 14.84 years. 888 pts without PFO [PFO(-)] created a control group. Two subgroups were analyzed in the study group: xPFO(+) - 28 pts with PFO as the only abnormality, yPFO(+) - 29 pts with PFO and other heart/aortic disease. Similarly, in the control group two subgroups were analysed: xPFO(-) - pts with normal TEE and negative history of heart/aortic disease and yPFO(-) - pts without PFO but with other heart/aortic disease. Aneurysmal formation of interatrial septum was detected in 24 pts, and in 6 pts it coexisted with PFO. The intensity of shunt was significantly higher in yPFO(+) than in xPFO(+) group. In 5 pts permanent shunt through PFO at the basal stage was observed (4 pts with significant regurgitation of the atrio-ventricular valves and one patient with tricuspid stenosis). Percentage of pts with the history of SE/TIA was significantly higher in group xPFO(+) than in xPFO(-) (p < 0.01). CONCLUSIONS: (1) PFO is a risk factor of SE/TIA only in group xPFO(+). (2) Flow through PFO in group xPFO(+) is generally minimal. (3) In case of coexisting heart pathology PFO may provoke significant right-to-left or even left-to-right shunt.

Adolescent↗
PubMed2006

[Ball thrombus in the right atrium: report of a case].

A 63-year-old man visited our hospital because of intermittent claudication due to an embolic episode in the left femoral artery. He had a long history of arterial fibrillation but had received no anticoagulant therapy. Echocardiography showed a large floating ball-shaped shadow in the right atrium, without any sign of tricuspid stenosis. Pulmonary perfusion scintigram was normal. At the operation, the thrombus which attached to the superior atrial septum with a thin string was removed. The thrombus was 54 x 40 x 25 mm in size and 23.8 g in weight, whose cut surface was in layers. There was neither atrial septal defect nor foramen ovale to suggest possibility of paradoxical embolism. The postoperative course was uneventful and he was discharged on the 9th postoperative day. Although the mechanism of the thrombus formations is unknown, it is considered to be important to continue anticoagulant therapy to avoid reccurence of intracardiac thrombus.

Cardiac Surgical Procedures↗
PubMed1991

[Bidimensional echocardiographic images of extracardiac tumors. Detection of mediastinal masses by the bidimensional echocardiographic Doppler technique].

A mediastinal tumor might mimic tricuspid stenosis, pulmonary stenosis, constrictive pericarditis, producing symptoms and signs of a cardiologic illness. We report 2 cases of mediastinal masses (1 lymphoma and 1 pulmonary cancer) localized in the anterior mediastinum and compressing the cardiac silhouette. Bidimensional echocardiography and Doppler were used to differentiate masses of cardiac origin from extracardiac origin and to study the hemodynamic alterations; moreover these techniques allow to evaluate the efficacy of therapy.

Adult↗
PubMed1990

[A case report of corrected transposition of the great arteries without any associated defects in a 36-year-old man and the review of adult cases reported in Japan].

We report a case in a 36-year-old man of corrected transposion of the great arteries (CTGA) without any associated defects. We also review clinical characteristics and later complications of adult CTGA cases reported in Japan. The patients was referred to our hospital for further examination of the abnormal ECG found during regular medical check-up. His ECG showed left axis deviation, first degree AV block, abnormal Q waves in the left precordial leads, and disappearance of septal q waves in the left precordial leads. His exercise capacity was found to be more than 12 METS by treadmill exercise testing. His roentgenogram revealed an egg-shaped ventricle with normal CTR (45%). The following findings were obtained by two-dimensional echocardiogram and heart catheterization: 1) the functional left ventricle had the characteristics of the anatomical right ventricle, 2) The positions of the left and right atrioventricular valves were reversed, 3) Other cardiac anomalies such as VSD, pulmonary stenosis, tricuspid regurgitation (TR) were not proved. Therefore, he was diagnosed as having CTGA without any cardiac defects (SLL type). At present, with ages more than 15 years, 36 cases of CTGA without cardiac anomalies have been reported in Japan including this case. But most cases had significant TR. This case was the 7th reported case without the accompaniment of TR. Among 36 cases, TR was found in 71%, complete AV block in 20%, and congestive heart failure was noted in 45%. Prognosis of CTGA without any defects is dependent on the appearance of TR, advanced AV block, and congestive heart failure. As these later fatal complications are observed very often, it is important to detect the patient of CTGA accurately.(ABSTRACT TRUNCATED AT 250 WORDS)

Adult↗
PubMed1993

Biventricular repair of hypoplastic right ventricle assisted by pulsatile bidirectional cavopulmonary anastomosis.

The right ventricle in patients with severe outflow obstruction or atresia and a small tricuspid valve often remains too hypoplastic even after optimal palliation to tolerate biventricular repair with closure of the atrial septal defect. In these patients, nonpulsatile cavopulmonary (Glenn) anastomosis has traditionally facilitated biventricular repair. In 1989, Billingsley and associates reported the addition of a bidirectional cavopulmonary anastomosis to the definitive biventricular repair in patients with hypoplastic right ventricle, pulmonary atresia, and intact ventricular septum. The atrial septal defect was left open with an adjustable snare for later closure. We report five patients with hypoplastic right ventricle (mean diastolic volume 48.4%, mean stroke volume 40.2% of predicted value) who had the atrial septal defect closed at the time of the biventricular repair. Four patients, who had the bidirectional cavopulmonary anastomosis supplementing the biventricular repair, had no evidence of excessive right atrial or superior vena cava hypertension postoperatively. One patient, who had atypical tetralogy of Fallot with tricuspid stenosis, developed recurrent pericardial tamponade and marked hepatomegaly following conventional tetralogy repair with closure of the atrial septal defect. These complications were controlled with the addition of bidirectional cavopulmonary anastomosis 2 months later. Postoperative hemodynamic or Doppler studies in these patients revealed pulsatile flow in the entire pulmonary artery system, including the artery distal to the Glenn anastomosis. This modification of biventricular repair allows primary closure of the atrial septal defect and provides pulsatile arterial flow in the entire pulmonary artery, even when the right ventricle is significantly hypoplastic.

Adult↗
PubMed1996

Early and intermediate term results of Carpentier's repair for Ebstein's anomaly.

BACKGROUND: Various surgical techniques have been used for correction of Ebstein's anomaly. This paper reports our early and intermediate term results for repair of this disease using the technique initially employed by Carpentier. PATIENTS AND METHODS: Since December 1987 through December 1991, 13 consecutive patients with Ebstein's anomaly underwent a Carpentier's type of repair. Their mean age was 16.3 years ranging from 6 to 51 years. The indications for operation were advanced NYHA functional class (III-IV) in 4 cases, cyanosis in 4, severe arrhythmia in 3 and cyanosis with arrhythmia in 2. Associated malformations were present in 9 patients. Eight had an atrial septal defect and four of them had, also, mitral prolapse whereas the remaining patient had a ventricular septal defect with subaortic stenosis. Tricuspid regurgitation was severe in 12 cases and moderate in one. According to the anatomo-functional classification described by Carpentier, seven patients had Ebstein's type C, whereas a type B was present in five patients and only one patient had a type A. RESULTS: There were three hospital deaths all of which occurred in patients with type C anomaly. Causes of death were respectively low output syndrome, sepsis and cerebral hemorrhage. Follow-up ranged from 49 to 105 months (median 58 months). There were no late deaths and all patients were in NYHA functional class I or II. Preoperative arrhythmia was improved or abolished in 4 out of 5 patients. Echocardiography showed that tricuspid regurgitation was absent in 2, mild in 4, moderate in 3 and severe in the remaining patient. CONCLUSIONS: Repair of Ebstein's anomaly, using the technique reported by Carpentier, can be accomplished with an acceptable operative risk and satisfactory intermediate term results. Echocardiography has an important role in the diagnosis of Ebstein's anomaly as well as in the indications and timing for repair and it is particularly useful for intra- and postoperative monitoring and anatomofunctional evaluation.

Adolescent↗
PubMed1976

[Disorders of intracardiac conduction during ankylosing spondylarthritis. Apropos of 19 cases].

The authors have collected 19 cases of ankylosing spondylitis with an alteration of intracardiac conduction. The lesions are usually situated high in the bundle of His, as shown by successive electrocardiograms and endocavitary studies. Progression by regressive acute episodes and the response to anti-inflammatory agents suggests that the disorder of conduction is inflammatory in origin. Syncopal attacks are rare (1 case out of 19) and a pacemaker is rarely indicated. Almost half the patients had aortic insufficiency, one patient had tricuspid stenosis and two patients had heart failure in the absence of any valvular lesion. The associated ankylosing spondylitis is characterised by the severity of the inflammatory signs (average sedimentation rate 50 mm in the first hour) and by the extent of peripheral articular involvement and extra-rheumatological manifestations. Almost one in two patients had iritis, with the same proportion applying to a past history of Reiters syndrome.

Adolescent↗
PubMed1983

Two-dimensional echocardiographic and angiocardiographic diagnosis of subpulmonary stenosis due to tricuspid valve pouch in complete transposition of the great arteries.

Two-dimensional echocardiograms and angiocardiograms were obtained in six infants and children, each with complete transposition of the great arteries, a ventricular septal defect and subvalvular pulmonary stenosis. In each case, the subpulmonary stenosis resulted from redundant tricuspid valve tissue which protruded through the ventricular septal defect and into the left ventricular outflow tract. Angio-echocardiographic correlations demonstrated features that allowed preoperative recognition of this unusual type of subpulmonary stenosis. The left ventricular angiogram in an anteroposterior orientation revealed a characteristic filling defect in the outflow tract during systole in each patient. Echocardiographic images of the left ventricular outflow tract and of the tricuspid valve demonstrated subpulmonary stenosis caused by protruding redundant tricuspid valve tissue (resembling a "pouch") in all six patients. These findings were contrasted with those from three patients with normally related great arteries and a similar, but nonobstructive, tricuspid valve pouch. Echocardiographic and angiocardiographic examination and correlation allowed preoperative diagnosis of this unusual form of subpulmonary stenosis in complete transposition of the great arteries. This is especially important because limited left ventricular intraoperative exploration may fail to reveal subpulmonary obstruction as the pouch may be flaccid in a relaxed arrested heart.

Angiocardiography↗
PubMed1986

Isolated rheumatic tricuspid regurgitation and stenosis.

The case of a 73-year-old man with right heart failure and systolic and diastolic murmur at the fourth left intercostal space is described. There was a history of rheumatic fever. Two-dimensional echocardiography showed rheumatic change of the tricuspid valve with giant right atrium and ventricle, which was confirmed during operation. This is an unusual case of isolated tricuspid regurgitation and stenosis with convincing evidence of rheumatic etiology.

Aged↗