Dysphagia lusoria caused by aberrant right subclavian artery, Kommerell's diverticulum, legamentum ring, right descending aorta, and absent left pulmonary artery: a report of a unique vascular congenital disease undetected until adulthood and a review of the literature.

An active otherwise healthy and middle-aged woman presented with left supraclavicular pulsation, right upper extremity claudication, and mild dysphagia. Evaluation revealed an aberrant right subclavian artery, Kommerell's diverticulum with aneurysmal degeneration, legamentum arteriosum completing vascular ring, and absent left pulmonary artery with multiple collateral supply to the left lung. She underwent successful surgical repair via right thoracotomy, including division of the vascular ring, resection of the diverticulum and aneurysm, and finally reimplantation of the right subclavian artery to the aortic arch. Her symptoms resolved completely, and she was able to resume normal activities.

Balloon dilation of native aortic coarctation in infancy.

Balloon dilation of aortic coarctation in neonates and infants remains controversial. Between 2/1985 and 8/1999, 80 patients <12 months of age, with native aortic coarctation underwent balloon dilation. The systolic pressure gradient across the stenosed area was reduced significantly acutely from a mean of 45.6+/-19.4 mmHg to 17.9+/-13.8 mmHg. In 55 (68.8%) patients, the procedure was initially successful with a residual gradient of <20 mmHg. In 12.5% of patients, intimal tears were detected after dilation. In 21.3% of patients, obstruction of the femoral artery occurred, which responded to heparin or streptokinase in all. Two patients developed aneuryms immediately after the first intervention. In 1 case, surgery was performed with a successful aneurysmectomy. Severe complications or death in relation to the procedure were not detected. Long-term follow-up was obtained in 66 of 80 (82.5%) patients in a period between 6 to 174 months (median 29 months). In 22/66 (33%) of the infants, within a mean period of 10.9+/-15.2 months after first intervention, a redilation was necessary. Sixteen of 22 were successful procedures. In the remaining six patients, surgery was performed electively. A total of 30/66 who had follow-up (45%) patients remained free from reintervention or surgery after the first procedure. Further analysis of the data according to age showed that neonates and infants < or =3 months of age had a 90% and 62% higher residual stenosis rate, respectively, than infants >3 months. In this young age group, balloon dilation can only be recommended as palliation in young infants with severe left venticular dysfunction or in the case surgery is prohibitive for other reasons.

Differential regulation of atrial and brain natriuretic peptides and its implications for the management of left ventricular volume overload.

BACKGROUND: In this study, we investigated the possibility that the atrial and brain natriuretic peptide expression in left ventricular volume overload (VOL) is transcriptionally regulated. We further evaluated the diagnostic and/or prognostic potential of this expression for the management of patients with this disorder. DESIGN: We compared the myocardial mRNA expression and plasma levels of the two peptides in VOL patients using donor hearts and in healthy blood donors as controls. RESULTS: The atrial natriuretic peptide (ANP) mRNA was elevated by 38% (P < 0.03) in the right atrium and by 53% (P < 0.003) in the left atrium, but was unchanged in the ventricular chambers of the patient group (n = 19) compared with controls (n = 8). Plasma ANP concentration was elevated by 62% (P < 0.001) compared with blood donor controls (n = 79). It increased slightly (by 36%) 2 h following surgery, and remained at 64% higher (P < 0.03 vs. presurgery) for the 5 days following surgery. The brain natriuretic peptide (BNP) mRNA was elevated by approximately one-fold in both the left ventricle (P < 0.02) and right atrium (P < 0.05), by 94% (P < 0.02) in the right ventricle and by 89% (P < 0.05) in the left atrium. Its plasma level in the patients was 3.4-fold (P < 0.00003) higher than in control subjects. It increased significantly by 1.2-fold (P < 0.01) 2 h following surgery, but dropped significantly (P < 0.05 vs. 2 h post surgery) to presurgical levels 5 days following surgery. CONCLUSION: The results show chamber-specific elevation in both atrial and brain natriuretic peptide expression and differences in their circulating levels in VOL, suggesting that BNP is a potential prognostic indicator in the postsurgical management of these patients.

Repair of moderate aortic valve lesions associated with other pathology: an 11-year follow-up.

OBJECTIVES: The presence of moderate aortic valve (AV) lesions associated with other pathologies that require surgery presents a problem since ignoring or replacing the valve seems unsatisfactory. AV repair can be an attractive alternative if shown to perform satisfactory. METHODS: To evaluate this possibility, all consecutive AV patients who underwent operation between July 1988 and July 1999 were reviewed. Out of 1764 AV patients, 239 (14%) underwent repair and 86 (study group) had moderate lesions associated with mitral (73), tricuspid (33), coronary disease (5) and others (8). Mean age was 28 years (range 2--66); 78% were rheumatic, 71% were in sinus rhythm and 71% in NYHA class III--IV. RESULTS: There were seven hospital deaths (8%) and three patients were lost to follow-up (95% complete). Late mortality was 8% and 10-year actuarial survival was 86 +/- 4.5% (excluding hospital mortality). There were four (5%) embolic events (actuarial freedom 94 +/- 3.5%). Twenty-one patients required reoperation with two mortalities. The AV was not touched in five patients. In the remaining 16, the AV was replaced. Only one patient had isolated AV replacement while in all others, additionally, the mitral, tricuspid, or both required surgery. All reoperated patients had rheumatic etiology. Actuarial freedom from AV dysfunction at 8 years was 68 +/- 7.5%. CONCLUSIONS: Repair of associated moderate AV lesion is worth considering even in a predominantly young rheumatic population.

Long-Term outcome of mitral balloon valvotomy in pregnant women.

BACKGROUND AND AIM OF THE STUDY: The study aim was to examine the long-term outcome (nine years) of mitral balloon valvotomy in pregnant patients with severe mitral stenosis. METHODS: Twenty-three patients with severe, symptomatic (NYHA class III/IV) mitral stenosis underwent mitral balloon valvotomy using an Inoue balloon technique during the second trimester of their pregnancy; mean follow up in 19 patients was 5.1 +/- 2.8 years (range: 1 to 9 years). RESULTS: The procedure was successful in all patients. Immediately after valvotomy, the Doppler-derived mitral valve area increased from 0.90 +/- 0.18 to 1.97 +/- 0.36 cm2 (p <0.0001), and the transmitral mean gradient decreased from 15.7 +/- 4.7 to 5.5 +/- 1.6 mmHg (p <0.0001). Four patients had mild worsening of mitral regurgitation, and six developed insignificant interatrial communication immediately after valvotomy. There was no other morbidity or mortality. Patients showed a significant improvement in mean NYHA class, from 3.0 +/- 0.1 to 1.0 +/- 0.02 (p <0.001). Twenty-two patients had normal deliveries; one cesarean section in week 36 resulted in stillbirth. No developmental abnormalities were seen in the babies. At long-term follow up of mothers, the mitral valve area was 1.8 +/- 0.52 cm2; restenosis developed in three patients (16%). One baby died at one week from sudden infant death syndrome, and one at eight months, from pneumonia. All other children showed normal growth, development and speech for their age. CONCLUSION: Mitral balloon valvotomy using the Inoue balloon technique can provide satisfactory immediate relief and long-term outcome in pregnant patients with severe mitral stenosis.

Consanguinity and congenital heart disease in Saudi Arabia.

First-cousin marriage may be a significant risk factor for specific types of congenital heart disease in a consanguineous population. Inbreeding studies suggest an autosomal recessive component in the cause of some congenital heart defects. We studied a large sample of patients with structural congenital heart defects (CHD) identified through the Congenital Heart Disease Registry at King Faisal Specialist Hospital in Riyadh, Saudi Arabia. After exclusions of chromosome abnormalities and non-participation, data were collected on 891 consecutive patients who were registered between January and August, 1998. Data on first-cousin consanguinity and type of CHD diagnosis were collected. A z test of proportions was used to determine the association between consanguinity and subtypes of CHD. Data indicate that the proportion of first cousins in the CHD sample is higher than the proportion in the general population, supporting a hypothesis of autosomal recessive gene involvement in congenital heart disease. When subgroups of CHD were analyzed, first-cousin consanguinity was significantly associated with ventricular septal defect (VSD), atrial septal defect (ASD), atrioventricular septal defect (AVSD), pulmonary stenosis (PS), and pulmonary atresia (PA). There was no relationship between consanguinity and tetralogy of Fallot (TOF), tricuspid atresia (TA), aortic stenosis (AS), co-arctation of the aorta (CoA), and patent ductus arteriosus (PDA). Thus, in a population with a high degree of inbreeding, consanguinity may exacerbate underlying genetic risk factors, particularly in the offspring of first cousins. There may be a recessive component in the causation of some cardiac defects.

Long-term results of pulmonary balloon valvulotomy in adult patients.

BACKGROUND AND AIM OF THE STUDY: The study aim was to define the long-term outcome of pulmonary balloon valvulotomy (PBV) in adult patients. METHODS: PBV was performed in 87 patients (46 females, 41 males; mean age 23+/-9 years; range: 15-54 years) with congenital pulmonary valve stenosis (PS). Intermediate follow up catheterization (mean 14.6+/-5.0; range: 6-24 months) was performed after PBV in 53 patients. Clinical and Doppler echocardiography examinations were carried out annually in 82 patients (mean 8.0+/-3.9; range: 2-15 years). RESULTS: There were no immediate or late deaths. The mean catheter peak pulmonary gradient (PG) before and immediately after PBV, and at intermediate follow up was 105+/-39, 34+/-26 (p <0.0001) and 17+/-14 (p <0.0001) mmHg, respectively. The corresponding values for right ventricular (RV) pressure were 125+/-38, 59+/-21 (p <0.0001) and 42+/-12 (p <0.0001) mmHg, respectively. The infundibular gradients immediately after PBV and at intermediate follow up were 31+/-23 and 14+/-9 mmHg (p <0.0001), whilst cardiac index improved from 2.68+/-0.73 to 3.1+/-0.4 l/min/m2 (p <0.05) at intermediate follow up. Doppler PG before PBV and at intermediate and long-term follow up were 91+/-33 (range 36-200) mmHg, 28+/-12 (range 10-60) mmHg (p <0.0001) and 26+/-11 mmHg (p = 0.2), respectively. New pulmonary regurgitation (PR) was noted in 21 patients (25%) after PBV. Five patients (6%) with a suboptimal result (immediate valve gradient > or =30 mmHg) developed restenosis and underwent repeat valvulotomy 6-12 months later using a larger balloon, and with satisfactory outcome. Moderate to severe tricuspid regurgitation (TR) in seven patients regressed after PBV. CONCLUSION: The long-term results of PBV in adults are excellent, with regression of concomitant, severe infundibular stenosis and/or severe TR. Hence, PBV should be considered as the treatment of choice for adult patients with PS.

Severe tortuosity and stenosis of the systemic, pulmonary and coronary vessels in 12 patients with similar phenotypic features: a new syndrome?

We describe what is, to the best of our knowledge, a previously unreported association in patients with similar facial features, skin and joint laxity, of lengthening and tortuosity of systemic, pulmonary and coronary vessels. We evaluated 12 patients with similar phenotypes, from eight different families. Detailed echocardiographic and angiographic evaluations were performed in all, and biopsies of the skin in seven. All patients have elongated facies, prominent ears, micrognathia and laxity of their joints. Angiographic pictures showed a varying degree of lengthening and tortuosity of systemic, pulmonary, and coronary arteries. Pulsatile carotid arteries formed cervical masses in 2 patients, and three had severe renal arterial stenoses. All showed varying degrees of branch and peripheral pulmonary arterial stenosis, necessitating placement of stents in six. Biopsy of the skin proved normal in all seven patients studied, thus excluding cutis laxa, Ehlers-Danlos and Marfan syndromes. The constellation of abnormalities suggests a genetic syndrome of connective tissue etiology. Further genetic studies, and gene mapping, are underway.

Evaluation of a new device for quick sutureless coronary artery anastomosis in surviving sheep.

OBJECTIVE: A new device for performing quick sutureless vascular anastomosis by means of stent technology has recently been developed by Jomed International, Helsingborg, Sweden. The efficacy of this GraftConnector was studied in a sheep model. METHODS: In adult sheep, a left anterior thoracotomy under the fourth rib extended across the sternum gave good access to the left anterior descending branch (LAD) and the right internal mammary artery (RIMA). On beating hearts, the GraftConnector group had the RIMA connected to the LAD by means of the new device, while the control animals had the same anastomoses sutured with continuous 7-0 polypropylene sutures. The time for completing the anastomosis (ischemic time) was recorded and the blood flow in the RIMA was recorded with the proximal LAD open and closed, respectively. An intra-operative fluoroscopy with contrast injection directly into the graft was done. Finally the proximal LAD was ligated. The surviving animals are to be followed up. RESULTS: Seven (46%) of the 15 animals operated on with the traditional suturing technique and seven (63%) of the 11 GraftConnector sheep survived the procedures and are to be followed up. The 11 anastomoses done with the GraftConnector were completed in 2.41+/-0.2 min, and the 14 anastomoses sutured with continuous suture were completed in 6.93+/-0.419 min (P<0.0001). The RIMA blood-flows in the two groups were comparable and are presented. All the surviving animals had open anastomoses at fluoroscopy. CONCLUSIONS: Quick coronary artery anastomoses without suturing on beating hearts can be completed with the new GraftConnector. The GraftConnector creates reproducible anastomoses in much less time than suturing, the per-operative mortality in the GraftConnector Group was accordingly lower. Long-time follow-up of the patency in surviving animals is pending. The presented device may ultimately permit quick anastomoses endoscopically.

Results of the Ross operation in rheumatic versus non-rheumatic aortic valve disease.

BACKGROUND AND AIM OF THE STUDY: A total of 213 patients underwent the Ross operation at our institution between January 1990 and January 1999. Outcome was assessed in rheumatic (RH) patients and compared with that in patients with other etiology (non-RH). METHODS: After exclusion of 69 patients with a follow up of <18 months, the study group comprised 144 patients (119 RH, 25 non-RH). Patients were studied clinically and by echo-Doppler cardiography preoperatively, within 2 months and 6-8 months after surgery, and yearly afterwards. Preoperative assessment included age, gender, body surface area (BSA), type of aortic valve lesion and additional valve disease, left and right ventricular outflow tract (LVOT, RVOT) dimensions, and left ventricular (LV) size, function and mass. Postoperatively, patients were studied for presence and severity of autograft regurgitation, mitral regurgitation, LV size, function and mass, and incidence and timing of reoperation. RESULTS: On average, RH patients were older and had higher BSA, more aortic regurgitation than stenosis, more additional mitral valve disease (mostly regurgitation), larger LV size and poorer LV function. Mitral valve repair was performed in 24% of RH patients versus 0% of non-RH patients. Postoperatively, differences in LV size, function and mass remained present, but diminished during follow up. The autograft reoperation incidence was 22% (26/119) in RH patients versus 8% (2/25) in non-RH patients (p = NS). Preoperative predictors for reoperation in the RH group were severe concomitant mitral regurgitation (MR), followed by male gender and large indexed LVOT (all p<0.001 by discriminant analysis). CONCLUSION: Marked differences were present in patient characteristics between rheumatic and nonrheumatic patients who underwent the Ross operation. Rheumatic patients had a higher incidence of autograft reoperation. Severe concomitant MR was the most important predictor for reoperation in rheumatic patients.

Double-chambered right ventricle in 73 patients: spectrum of the disease and surgical results of transatrial repair.

OBJECTIVE: To review the spectrum of double-chambered right ventricle (DCRV) and the outcome of surgical repair in patients diagnosed between February 1988 and March 1999. DESIGN: The charts of patients with DCRV were studied. SETTING: Tertiary care hospital. PATIENTS AND METHODS: A total of 73 patients were identified. Sixty-nine underwent surgical repair, while four are awaiting surgery. The repair was through a transatrial approach in 61 patients, while in eight an additional ventriculotomy was performed. MAIN RESULTS: An associated ventricular septal defect (VSD) was present in 56 of 73 patients (77%). These patients were significantly younger (P<0.05) than the 17 patients without a VSD. Among patients with a VSD, the 31 requiring patch closure were significantly younger than the 25 patients having direct closure. Five older patients among those with intact septum had impaired right ventricular (RV) function as well as higher intraventricular gradients. At surgery the intraventricular obstruction was relieved by myomectomy. There was no hospital or late mortality. Following surgery, at a mean follow-up of 13.6 months, no increase in the intraventricular gradient was detected by Doppler echocardiography. CONCLUSIONS: The development of DCRV is associated with VSD in early life. The probability of the presence of a VSD decreases with age. The disease is progressive, resulting in increased intracavitary gradient within the RV and in RV impairment if it is not treated in a timely fashion. Transatrial repair is safe with excellent midterm results. In the presence of high gradients within the RV, a ventriculotomy may be necessary to obtain acceptable results.

Changes of management in a patient with double outlet left ventricle.

Double outlet left ventricle is an extremely rare anomaly. Until recently, the diagnosis was usually established by angiography or at postmortem. There are only a few reports describing the echocardiographic findings in this lesion, and as far as we know, no report showing the anatomy as well as the velocity and pattern of flow by color Doppler echocardiography. The patient reported here underwent surgery at the age of four years, when an aortic homograft was placed between the right ventricle and the pulmonary trunk. This biventricular repair had to be changed into a Fontan-type procedure, 15 years later since the hypoplastic right ventricle did not grow adequately.

Aneurysms complicating pulmonary autograft procedure for aortic valve replacement.

Aneurysm formation in the left ventricular outflow tract related to the proximal end of the pulmonary autograft after the Ross procedure was present in 2 patients. Both occurred late after operation and were associated with prolapse of a leaflet of the autograft and significant regurgitation. Both were repaired with no immediate complications. There was no evidence of infection at time of operation. The probable mechanisms underlying this complication and the possibilities of avoiding it are discussed.

Relevance of apolipoprotein E polymorphism for coronary artery disease in the Saudi population.

BACKGROUND: The apolipoprotein E alleles epsilon2 and epsilon4 have been reported as independent risk factors for coronary artery disease (CAD) and as predictors for the development of atherosclerosis. METHODS AND RESULTS: We determined by polymerase chain reaction the distribution of apolipoprotein E polymorphism in 320 Saudi blood donors (BD), 96 CAD patients, and 40 control subjects who had undergone angiography. Compared to controls, only epsilon4 was elevated in CAD patients. More than 61% (P <.0001) of the patients had angina, and 52.1% (P <.05) were diabetic; both of these factors were strongly associated with the presence of allele epsilon2. The epsilon2 allele was also associated with hypertension, elevated serum triglycerides, and total cholesterol. On the other hand, the allele epsilon4 appeared to be associated with increased risk of CAD and was also associated with hypertension, 3-vessel disease, and restenosis. CONCLUSIONS: Accordingly, epsilon4 may be associated with increased risk of CAD, whereas epsilon2 appears to be a predictor of several risk factors for atherosclerosis.

The long-term effect of successful mitral balloon valvotomy on left atrial size.

BACKGROUND AND AIM OF THE STUDY: The study aim was to determine the extent of regression of left atrial (LA) enlargement following mitral balloon valvotomy (MBV) for mitral stenosis. METHODS: Data obtained from 205 patients before, and at a mean of 31.0 +/- 21.1 months (range: 6 to 86.3 months) after successful MBV were analyzed retrospectively. RESULTS: The invasively determined mitral valve area increased from 0.81 +/- 0.27 cm2 at baseline to 1.73 +/- 0.54 cm2 immediately after valvotomy (p <0.0001), and the mean mitral gradient fell from 15.6 +/- 5.3 to 5.4 +/- 2.5 mmHg (p <0.0001). Similar changes were noted in Doppler-determined mitral valve area (0.89 +/- 0.16 to 1.97 +/- 0.29 cm2; p <0.0001) and gradient (12.6 +/- 5.3 to 4.9 +/- 1.7 mmHg; p <0.0001). In comparison with baseline, significant (p <0.0001) reductions were noted at follow up in the echocardiographic anteroposterior (48.7 +/- 6.9 to 42.4 +/- 6.6 mm), superior-inferior (68.5 +/-8.1 to 59.6 +/- 8.2 mm) and medial-lateral LA dimension (51.2 +/- 6.7 to 44.1 +/- 7.7 mm) and calculated LA volume (91.6 +/- 29.1 to 60.7 +/- 23.8 cm3) Patients in atrial fibrillation had larger LA dimensions, but substantially smaller absolute and relative reduction in LA size at follow up than patients in sinus rhythm. Among patients with prevalvotomy LA enlargement, normalization of LA dimension at follow up was seen in 29.2% of patients in sinus rhythm, but in none of the 32 with atrial fibrillation. CONCLUSIONS: Successful MBV results in significant long-term reduction in LA size in most patients, but normalization of LA size is unusual.

Long-term effects of balloon angioplasty on systemic hypertension in adolescent and adult patients with coarctation of the aorta.

AIMS: To define the long-term effect of balloon angioplasty of aortic coarctation on hypertension, in adolescent and adult patients. METHODS: Balloon angioplasty of discrete, native aortic coarctation was performed on 50 patients (34 male) aged 23+/-8 (mean+/-standard deviation) years. In 42 of these patients cardiac catheterization and angiography were repeated 1 year later, and on the basis of sphygmomanometric blood pressure determination at that time, they were divided into 31 patients (group A) with normalized blood pressure and 11 patients (group B) who still needed antihypertensive medication. Both groups were followed annually thereafter for 12-123 (66+/-37) months. RESULTS: Coarctation gradient values before, immediately after and 1 year after angioplasty were 69+/-24 mmHg, 12+/-8 mmHg (P<0.001) and 7+/-6 mmHg. The corresponding systolic blood pressure values were 165+/-17 mmHg, 128+/-12 mmHg (P<0.001) and 115+/-10 mmHg (P<0.001) in group A; 182+/-21 mmHg, 141+/-24 mmHg (P<0.001) and 134+/-18 mmHg (P<0.001) in group B. Echocardiographic left ventricular mass index before angioplasty and at follow-up was 130+/-31 g x m-2 and 105+/-23 g x m-2 in group A; 157+/-38 g x m-2 and 132+/-35 g x m-2 in group B (P<0.001 for both comparisons). CONCLUSION: Normalization of blood pressure without medication occurred in 74% of patients after angioplasty for aortic coarctation, with subsequent long-term regression of left ventricular hypertrophy. In comparison to reported surgical results, balloon angioplasty should be considered as first line treatment for native, discrete aortic coarctation in adolescent and adult patients.

First-cousin matings and congenital heart disease in Saudi Arabia.

BACKGROUND: Consanguinity may be a risk factor that contributes to congenital heart disease in an inbred population, particularly among first cousins; with high rates of intermarriage between relatives, consanguinity is associated with congenital heart disease particularly among first cousins. PATIENTS AND METHODS: This study examines a group of 1,028 consecutive congenital heart disease (CHD) patients identified through the Congenital Heart Disease Registry at King Faisal Specialist Hospital in Riyadh, Saudi Arabia. Families were interviewed by an Arabic-speaking data collector for information on consanguinity and demographic data. After exclusions for nonavailability, data were collected on 949 cases and the proportions of first-cousin consanguinity in the study sample were compared to national population data. A z test of proportions was utilized to test the hypothesis that there are higher proportions of first-cousin consanguinity in the study sample of congenital heart patients than in the general population. FINDINGS: Data indicate that the proportion of first-cousin matings among CHD patients is significantly higher than that of first-cousin intermarriages reported in the general population (p < 0.001). Regional breakdowns of the data substantiate significant differences (p < 0.001) in the proportions of first-cousin consanguinity in the study sample compared to the general population. INTERPRETATION: In a population with a high degree of inbreeding, consanguinity may exacerbate underlying genetic risk factors, particularly for offspring of first-cousin matings. This finding has public health implications for genetic counseling and prevention of some cardiac malformations.