Congenital Aortic Stenosis: Some Observations on the Natural History and Clinical Assessment

Three hundred patients, 30 years of age or under, with the clinical diagnosis of aortic stenosis were reviewed to provide information on the accuracy of clinical assessment and the natural history of the condition when left untreated. Sudden death was uncommon and occurred only in patients with clinical evidence of severe obstruction. In infants, the early presentation and lethal nature of aortic stenosis appeared to result from the presence of additional cardiac lesions. Correlation of clinical assessment with hemodynamic data in 83 patients indicated that important stenosis was present if the systolic murmur was accompanied by a thrill and associated with an increased left ventricular impulse, decreased brachial artery pulse pressure, or left ventricular hypertrophy on the electrocardiogram. The site of obstruction could not be established with certainty by clinical examination, but an early systolic ejection click was strong evidence against subvalvular stenosis.     

DISCRETE MEMBRANOUS SUBAORTIC STENOSIS: POSTOPERATIVE REVERSION OF AORTIC VALVE ECHOCARDIOGRAM TO NORMAL

Clinical, hemodynamic, angiographic and echocardiographic findings in a patient with discrete membranous subaortic stenosis are presented. Echocardiography revealed evidence of a normal mitral valve and abnormal movement of the aortic valve with poor motion and fluttering of the anterior cusp. After a subvalvular membrane subjacent to the aortic valve cusp was excised, postoperative echocardiographic study showed normal movement of the aortic valve.     

AORTIC STENOSIS—Surgical Treatment Under Direct Vision,Using the Heart-Lung Machine

Cardiac operation with the operative field under direct vision and the patient''s oxygenation maintained by a heart-lung machine affords an excellent means of treating aortic stenosis, for it allows unlimited time in which to repair aortic stenosis no matter how involved the cusps are with calcium. The valves can be sculptured and the commissures cut at their place of fusion. Concomitant aortic insufficiency can also be taken care of at the same time, as can associated mitral valve stenosis and insufficiency.This method was used in ten patients. Two died. Eight were considerably improved.     

Congenital aortic stenosis: follow-up of surgical management

We have reviewed the cases operated upon for correction of congenital aortic stenosis at l''Hôpital Ste-Justine between 1959 and 1969.Twenty-five of the 26 patients were readmitted for complete clinical, radiological and hemodynamic investigation. Fourteen had a valvular stenosis, eight a diaphragmatic subvalvular lesion, and three had mixed lesions.The results lead us to believe that the surgical treatment of this malformation is justified. The indications for surgery must take into account all available clinical, radiological, electrocardiographic and hemodynamic data.     

Survivors of ruptured abdominal aortic aneurysm: the iceberg's tip.

In four and a half years 25 patients in one community suffered a ruptured abdominal aortic aneurysm. Eleven died at home, nine died without operation in hospital, and only five had the aneurysm removed. There were four survivors. A further seven patients might have lived had they had a prompt operation. The average operative mortality for ruptured aneurysms among series reported in British journals is 53%, but the survivors are a small minority of the total number of people in the community whose aneurysms rupture. No basis could be found for the view that replacing an aortic aneurysm with a straight graft (while leaving behind aneurysmal common iliac arteries) lowers the operative mortality. On the contrary, oversimplifying the operation may be hazardous.     

Genetische Untersuchungen bei angeborener organischer subvalvulärer Aortenstenose

Zusammenfassung Ausgehend von 45 Probanden mit angeborenen organischen subvalvulären Aortenstenosen wurden Familienuntersuchungen durchgeführt. 29 Probanden hatten eine einfache (isolierte) Subaortenstenose (Tabelle 1), 16 weitere einen mit zusätzlichen Herzdefekten wie angeborener valvulärer Aortenstenose (n=3), Ductus arteriosus persistens (n=7), Aortenisthmusstenose (n=5) und Ventrikelseptumdefekt (n=2) kombinierten Typ (Tabelle 2 u. 3).Die Häufigkeit der angeborenen organischen Subaortenstenose liegt wahrscheinlich zwischen 0,0065% und 0,0162%.Das Geschlechtsverhältnis beträgt bei Zusammenfassung der eigenen Fälle mit Literaturbeobachtungen 2 :1 (Tabelle 3 u. 4).In den Familien der 45 Probanden wurden alle lebenden Eltern, Geschwister sowie Kinder, z. T. auch Großeltern und weitere Verwandte untersucht. In 11 Fällen famden sich in den Sippen weitere Angehörige mit angeborenen Herzfehlern (Tabelle 1 u. 2). In der Geschwisterschaft von Kranken beträgt die nach dem Maximum-likelihood-Verfahren errechnete Erkrankungswahrscheinlichkeit p=0,0361±0,00205 (k=0,^rmin=1). Die Erkrankungswahrscheinlichkeit der Eltern, errechnet nach der Weinbergschen Probandenmethode, beträgt 3,3±1,9% (Tabelle 6).Ein Proband hat einen eineiigen, nicht betroffenen Zwillingsbruder.Das Durchschnittsalter der Väter der Probanden beträgt 30,6 Jahre, das der Mütter 28,6 Jahre und entspricht dem der Kontrollgruppe (Tabelle 7).Die Prüfung der Geburtenordnung nach dem Haldane-Smith-Verfahren ergab keine signifikante Differenz zwischen Beobachtung und Erwartung (Tabelle 8).Genetisch liegt den angeborenen organischen Subaortenstenosen vermutlich ein multifaktorielles genetisches System mit additiver Polygenie und Schwellenwerteffekt zugrunde.

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Genetic investigations in congential organic subvalvular aortic stenosis

Summary Genetic investigations have been carried out on 45 propositi with congenital organic subvalvular aortic stenosis. From these, 29 had an isolated subvalvular aortic stenosis (see Table 1), 16 a type combined with other cardiac defects as valvular aortic stenosis (n=3), patent ductus arteriosus (n=7), coarctation of the aorta (n=5), and ventricular septal defect (n=2) (see Table 2 and 3).The incidence of this heart defect among all live births is probably 0.0065%–0.0162%.According to our own observations as well as to the literature the sex ratio of patients with organic subvalvular aortic stenosis is 2 :1 (see Table 3).In the families of the 45 propositi were examined all living parents, siblings and infants, in some cases also grand-parents and other family members. In all of them 11 relatives were affected with similar or-rarely-dissimilar congenital heart diseases (see Table 1 and 2). Using the maximum-likelihood-method, the risk of siblings to be affected is calculated as beeing p (k=0,^rmin=1). Using the Weinberg method the probability of parents to be affected is 3.3±1,9% (see Table 6).One index patient had a monozygotic co-twin who is not affected.The average age of the fathers is 30.6 years and of the mothers 28.6 years (see Table 7). There is no statistical difference between parental age and that of the control sample.The birth-order effect was examined in our 45 patients (see Table 8) by the Haldane-Smith-method. There is no difference between observation and expectation.The hypothesis of a multifactorial genetic background is supposed as mode of inheritance of congenital organic subvalvular aortic stenosis.

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Mit Unterstützung durch die Deutsche Forschungsgemeinschaft.     

CONGENITAL CARDIAC DEFECTS—Indications for Surgical Repair

The optimum ages for the operative repair of the various congenital defects have not as yet been definitely established. With certain exceptions, it has generally been the authors'' preference to delay elective operations until after the age of 18 months. In the usual case, the optimum age for the closure of septal defects is believed to be three to five years. Operative relief of stenosis of the aortic or pulmonic valves, however, is related entirely to the extent of the obstruction, age not being a factor. Although the surgical treatment of coarctation of the aorta is probably best delayed beyond the period of infancy, it is the authors'' belief that in the presence of extreme hypertension, cardiomegaly or cardiac failure, early resection of the aortic block should be accomplished. As to the treatment of tetralogy of Fallot, the authors'' policy is to delay operation until such time as definitive repair becomes less hazardous. Patients with severe symptoms, however, are given the benefit of some form of operative relief as soon as possible. Whether this is palliative or corrective depends upon the characteristics of the individual case.Definitive diagnostic studies are of great aid in assessing the urgency of operative intervention. The fact that approximately one-third of the patients dealt with required operation at less than 18 months of age suggests that, in selected cases, these studies should be performed early in infancy.     

Congenital cardiac defects; indications for surgical repair

The optimum ages for the operative repair of the various congenital defects have not as yet been definitely established. With certain exceptions, it has generally been the authors' preference to delay elective operations until after the age of 18 months. In the usual case, the optimum age for the closure of septal defects is believed to be three to five years. Operative relief of stenosis of the aortic or pulmonic valves, however, is related entirely to the extent of the obstruction, age not being a factor. Although the surgical treatment of coarctation of the aorta is probably best delayed beyond the period of infancy, it is the authors' belief that in the presence of extreme hypertension, cardiomegaly or cardiac failure, early resection of the aortic block should be accomplished. As to the treatment of tetralogy of Fallot, the authors' policy is to delay operation until such time as definitive repair becomes less hazardous. Patients with severe symptoms, however, are given the benefit of some form of operative relief as soon as possible. Whether this is palliative or corrective depends upon the characteristics of the individual case. Definitive diagnostic studies are of great aid in assessing the urgency of operative intervention. The fact that approximately one-third of the patients dealt with required operation at less than 18 months of age suggests that, in selected cases, these studies should be performed early in infancy.     

Early and late results of resection of abdominal aortic aneurysms.

Resection of the abdominal aortic aneurysm is being performed with decreasing operative mortality and morbidity. Among 190 patients undergoing this procedure at the Ottawa Civic Hospital between 1970 and 1975, 53 (28%) had a ruptured aneurysm and 137 (72%), a nonruptured aneurysm. Mean age of the patients was 66.2 years. Concomitant disease was frequent, 73% of patients having two or more associated diseases; the average number of associated diseases per patient was 2.25. Operative mortality in the group with ruptured aneurysms was 51%, and in the group with nonruptured aneurysms, 4%. Postoperative morbidity was 85% among those with a ruptured aneurysm, 67% among those with imminent rupture before operation and 34% among the others with a nonruptured aneurysm. Graft complications occurred in 15% of those with a ruptured aneurysm and 9% of those with a nonruptured aneurysm. Among survivors of the operation 73% and 81% of those with a ruptured and a nonruptured aneurysm, respectively, are known to be alive. In both groups causes of late death included infection or thrombosis of the graft and mesenteric thrombosis, as well as causes unrelated to the operation. Surgical management of the abdominal aortic aneurysm is advocated in all but patients at poor risk for operation who have asymptomatic aneurysms less than 6 cm in diameter.     

Renal Artery Surgery in Patients with Presumptive Renovascular Hypertension

The authors review their experience with 29 patients who were operated upon for renal artery stenosis and had been followed up for longer than one year postoperatively. The preoperative assessment should include an aortogram and split-function test. A bypass prosthesis was the most useful operative technique. One year following surgery 40% were cured, 40% significantly improved and 20% unchanged. The results in patients with a longer follow-up (to seven years) were similar.A plea is made for more frequent preoperative renal biopsies and a greater willingness to perform bilateral repairs at the time of the initial operation.     

Discrete subaortic stenosis as part of a short stature syndrome

Summary Observations in a family point to the existence of autosomal dominant inheritance for discrete subaortic stenosis (DSS), which made up part of a multisystem disorder. Both parents, offspring of two full siblings, had short stature, obstructive lung disease (OLD), hoarseness and upturned nose. The father alone had aortic stenosis and inguinal hernia.The six offspring, aged from 13 to 28 years, were followed up for up to 8 years. While one of them was virtually normal, and one had only minor abnormalities, four siblings displayed clinical signs of progressive aortic stenosis. Of the two eldest siblings who eventually died, necropsy in one showed a discrete subaortic stenosis, which was hemodynamically proven in one and surgically corrected in another sibling.Upturned nose was present in each examined member of the family, short stature and hoarseness in five of the siblings, DSS in four, OLD, inguinal hernia and congested episcleral veins in three, kyphoscoliosis in two, while epicanthus, strabismus, microphthalmos and widely spaced teeth were noted in the deceased female. The prevalence of some of these traits in roughly three-quarters of the sibship was consistent with an underlying single gene abnormality in affected heterozygous parents. We proposed that this constitutes a new syndrome.     

Ruptured Abdominal Aortic Aneurysms: Surgical Treatment

The records of 62 consecutive patients with ruptured abdominal aortic aneurysms were analyzed to determine what factors contribute to lower mortality. Survival was directly related to the immediate preoperative hemodynamic status of the patients. In 18 cases in which operation was carried out with patients stable, 83 percent of the patients survived. Even if shock was present by the time of operation (37 cases), a 68 percent survival rate was achieved. Cardiac arrest occurred before obtaining aortic control in seven patients and one survived.Survival rates were increased if certain preoperative, operative and postoperative guidelines were followed. Since the combined operative mortality and late graft failure rate in 125 elective aneurysmectomies done during the same decade was under 5 percent, all abdominal aortic aneurysms with few exceptions should be surgically treated before rupture occurs.     

Bicuspid stenotic aortic valves: clinical characteristics and morphological assessment using MRI and echocardiography

Background

Bicuspid aortic valve (BAV) is one of the most common congenital heart defects with a population prevalence of 0.5% to 1.3%. Identifying patients with BAV is clinically relevant because BAV is associated with aortic stenosis, endocarditis and ascending aorta pathology.

Methods and Results

Patients with severe aortic stenosis necessitating aortic valve replacement surgery were included in this study. All dissected aortic valves were stored in the biobank of the University Medical Centre Utrecht. Additionally to the morphological assessment of the aortic valve by the surgeon and pathologist, echocardiographic and magnetic resonance imaging (MRI) images were evaluated. A total of 80 patients were included of whom 32 (40%) were diagnosed with BAV by the surgeon (gold standard). Patients with BAV were significantly younger (55 vs 71 years) and were more frequently male. Notably, a significant difference was found between the surgeon and pathologist in determining valve morphology. MRI was performed in 33% of patients. MRI could assess valve morphology in 96% vs 73% with echocardiography. The sensitivity of MRI for BAV in a population of patients with severe aortic stenosis was higher than echocardiography (75% vs 55%), whereas specificity was better with the latter (91% vs 79%). Typically, the ascending aorta was larger in patients with BAV.

Conclusion

Among unselected patients with severe aortic valve stenosis, a high percentage of patients with BAV were found. Imaging and assessment of the aortic valve morphology when stenotic is challenging.     

Pregnancy in women with prosthetic heart valves

Pregnancy in women with mechanical valve prostheses has a high maternal complication rate including valve thrombosis and death. Coumarin derivatives are relatively safe for the mother with a lower incidence of valve thrombosis than un-fractionated and low-molecular-weight heparin, but carry the risk of embryopathy, which is probably dose-dependent. The different anticoagulation regimens are discussed in this review. When valve thrombosis occurs during pregnancy, thrombolysis is the preferable therapeutic option. Bioprostheses have a more favourable pregnancy outcome than mechanical prostheses but due to the high re-operation rate in young women they do not constitute the ideal alternative. When women with native valve stenosis need pre-pregnancy intervention, mitral balloon valvuloplasty is the best option in mitral stenosis, while the Ross operation or homograft implantation may be the preferable surgical regimen in aortic stenosis. (Neth Heart J 2008;16:406-11.)     

The role of cardiac biochemical markers in aortic stenosis

Calcified aortic stenosis is one of the most common causes of heart failure in the elderly. Current guidelines recommend aortic valve replacement in patients with severe disease and evidence of decompensation based on either symptoms or impaired systolic ejection fraction. However, symptoms are often subjective whilst impaired ejection fraction is not a sensitive marker of ventricular decompensation. Interest has surrounded the use of cardiac biochemical markers as objective measures of left ventricular decompensation in aortic stenosis. We will first examine mechanisms of release of biochemical markers associated with myocardial wall stress (BNP/NT-proBNP), myocardial fibrosis (markers of collagen metabolism, galectin-3, soluble ST2) and myocyte death/myocardial ischemia (high-sensitivity cardiac troponins, heart-type fatty acid binding protein, myosin-binding protein C); and discuss future directions of these markers.     

Acquired left coronary artery fistula to right ventricular outflow tract

A 59-year-old asymptomatic male was referred to our hospital for evaluation 44 years after surgical correction of a Fallot’s tetralogy. Transthoracic echocardiography showed a good surgical result with only a mild subvalvular pulmonary stenosis and mild pulmonary regurgitation. However, in the parasternal short axis a diastolic colour Doppler flow was seen in the right ventricular outflow tract with a maximum velocity over 4 m/s (figure 1). Pulmonary regurgitation seemed very unlikely because of the high velocity in the absence of elevated pulmonary artery pressure. Because a fistula was suspected, a multislice computer tomography scan was performed.     

Clinical and angiographic predictors of stroke and death from carotid endarterectomy: systematic review.

OBJECTIVE: To identify risk factors for operative stroke and death from carotid endarterectomy. DESIGN: Systematic review of all studies published since 1980 which related risk of stroke and death to various preoperative clinical and angiographic characteristics, including unpublished data on 1729 patients from the European carotid surgery trial. MAIN OUTCOME MEASURE: Operative risk of stroke and death. RESULTS: Thirty six published studies fulfilled our criteria. The effect of 14 potential risk factors was examined. The odds of stroke and death were decreased in patients with ocular ischaemia alone (amaurosis fugax or retinal artery occlusion) compared with those with cerebral transient ischaemic attack or stroke (seven studies; odds ratio 0.49; 95% confidence interval 0.37 to 0.66; P < 0.00001). The odds were increased in women (seven studies; 1.44; 1.14 to 1.83; P < 0.005), subjects aged > or = 75 years (10 studies: 1.36; 1.09 to 1.71; P < 0.01), and with systolic blood pressure > 180 mm Hg (four studies; 1.82; 1.37 to 2.41; P < 0.0001), peripheral vascular disease (one study; 2.19; 1.40 to 3.60; P < 0.0005), occlusion of the contralateral internal carotid artery (14 studies; 1.91; 1.35 to 2.69; P < 0.0001), stenosis of the ipsilateral internal carotid siphon (five studies; 1.56; 1.03 to 2.36; P = 0.02), and stenosis of the ipsilateral external carotid artery (one study; 1.61; 1.05 to 2.47; P = 0.03). Operative risk was not significantly related to presentation with cerebral transient ischaemic attack versus stroke, diabetes, angina, recent myocardial infarction, current cigarette smoking, or plaque surface irregularity at angiography. Multiple regression analysis of data from the European carotid surgery trial identified cerebral versus ocular events at presentation, female sex, systolic hypertension, and peripheral vascular disease as independent risk factors. CONCLUSIONS: The risk of stroke and death from carotid endarterectomy is related to several clinical and angiographic characteristics. These observations may help clinicians to estimate operative risks for individual patients and will also facilitate more meaningful comparison of the operative risks of different surgeons or at different institutions by allowing some adjustment for differences in case mix.     

LEFT HEART CATHETERIZATION—The Clinical Importance of Findings

Left heart catheterization using the transbronchial route to obtain pressures in the left atrium and left ventricle was used successfully in 29 cases with no mortality or morbidity. It was found to be useful in differentiating between mitral stenosis and mitral insufficiency, as well as determining the amount of aortic stenosis present when there was involvement of the aortic valve. The technique was also helpful in determining which is the predominant lesion when there is a disease of the aortic and mitral valves.In two patients in a series of 29, data obtained by left heart catheterization forestalled operation on the basis of a mistaken diagnosis of mitral stenosis when actually no mitral valvular disease was present. In another eight patients, the predominant lesion was found to be mitral stenosis rather than mitral insufficiency as it was thought to be before catheterization. In two patients, who had only systolic murmurs, catheterization revealed mitral stenosis rather than mitral insufficiency. In four patients who were thought to have mixed valvular disease, left heart catheterization showed only aortic valvular disease.     

Left heart catheterization; the clinical importance of findings

Left heart catheterization using the transbronchial route to obtain pressures in the left atrium and left ventricle was used successfully in 29 cases with no mortality or morbidity. It was found to be useful in differentiating between mitral stenosis and mitral insufficiency, as well as determining the amount of aortic stenosis present when there was involvement of the aortic valve. The technique was also helpful in determining which is the predominant lesion when there is a disease of the aortic and mitral valves. In two patients in a series of 29, data obtained by left heart catheterization forestalled operation on the basis of a mistaken diagnosis of mitral stenosis when actually no mitral valvular disease was present. In another eight patients, the predominant lesion was found to be mitral stenosis rather than mitral insufficiency as it was thought to be before catheterization. In two patients, who had only systolic murmurs, catheterization revealed mitral stenosis rather than mitral insufficiency. In four patients who were thought to have mixed valvular disease, left heart catheterization showed only aortic valvular disease.     

Chronic headache: the role of deformity of the nasal septum.

To ascertain a possible causal relation between chronic headache and nasal stenosis arising from deformity of the nasal septum 79 people suffering from both symptoms were observed over one year. On entry to the study they were randomly allocated to either an operative or a control group. The patients in the operative group underwent nasal reconstructive surgery, and the control patients were observed without treatment. Comparison of the two groups showed a considerable decrease in headache after operation. These findings support the suggestion of a causal relation between chronic headache and nasal stenosis and indicate that a nasal origin should be borne in mind in cases of otherwise unexplained chronic headache.