Natural history of cardiovascular manifestations in Marfan syndrome.

AIMS: To investigate the natural history of mitral valve and aortic abnormalities in patients with Marfan syndrome during childhood and adolescence. METHODS: Fifty two patients with Marfan syndrome were followed for a mean of 7.9 years. Occurrence of adverse cardiovascular outcomes was measured clinically and by ultrasound examination. RESULTS: Mitral valve prolapse (MVP) was diagnosed in 46 patients at a mean age of 9.7 years, more than 80% of whom presented as "silent MVP". Mitral regurgitation (MR) occurred in 25 patients, aortic dilatation in 43, and aortic regurgitation (AR) in 13. Both MVP and aortic dilatation developed at a constant rate during the age period 5-20 years. In 23 patients MVP was diagnosed before aortic dilatation, in 18 the reverse occurred, and in 11 patients the two abnormalities were diagnosed simultaneously. During follow up, 21 patients showed progression of mitral valve dysfunction; progression of aortic abnormalities occurred in 13. Aortic surgery was performed in 10; two died of subsequent complications. Mitral valve surgery was performed in six. In sporadic female Marfan patients the age at initial diagnosis of MVP, MR, aortic dilatation, and AR was lowest, the grade of MR and AR most severe, the time lapse between the occurrence of MVP and subsequent MR as well as between dilatation and subsequent AR shortest, and the risk for cardiovascular associated morbidity and mortality highest. CONCLUSIONS: During childhood and adolescence in Marfan syndrome, mitral valve dysfunction as well as aortic abnormalities develop and progress gradually, often without symptoms, but may cause considerable morbidity and mortality by the end of the second decade, especially in female sporadic patients.

Survival and complication free survival in Marfan's syndrome: implications of current guidelines.

OBJECTIVE: To evaluate survival and complication free survival in patients with Marfan's syndrome and to assess the possible influence of recently revised guidelines for prophylactic aortic root replacement in these patients. METHODS: 130 patients who had been attending one institution over 14 years were evaluated. Kaplan-Meier analysis was performed in 125 patients who did not present with aortic root dissection as the first sign of Marfan's syndrome, with the end points: death, aortic root dissection, and prophylactic aortic root replacement after diagnosis. In the patients developing aortic root dissection, current guidelines for prophylactic aortic root replacement were retrospectively applied to investigate the number of dissections that could theoretically have been prevented. The guidelines were: (1) aortic root diameter >/= 55 mm, (2) positive family history of aortic dissections and aortic root diameter >/= 50 mm, and (3) aortic root growth >/= 2 mm/year. Outcomes following emergency surgery (15 patients) and prophylactic surgery of the aortic root (30 patients) were compared. RESULTS: Five and 10 year survival after diagnosis was 95% and 88%, and the five and 10 year complication free survival was 78% and 66%, respectively. Thirteen patients developed dissection, 30 underwent prophylactic repair, and 82 had an uncomplicated course. Eleven dissections could theoretically have been prevented by application of the current guidelines. Five year survival following emergency and prophylactic repair of the aortic root was 51%, and 97%, respectively. CONCLUSIONS: Survival in the Marfan's syndrome in the past 14 years seems satisfactory; with application of current guidelines, it has probably even improved. However, because of the high fatality rate in Marfan patients developing aortic root dissection, more extensive screening for Marfan's syndrome and a search for additional risk factors are desirable.

Marfan syndrome in children and adolescents: predictive and prognostic value of aortic root growth for screening for aortic complications.

OBJECTIVE: To assess and measure the diagnostic and prognostic value of individual aortic root growth in children and adolescents with Marfan syndrome. DESIGN: From 1983 to 1996, 250 children were screened for Marfan syndrome. Serial echocardiographic aortic root measurements of 123 children (57 Marfan, 66 control) were available for evaluation of aortic root growth. Aortic root diameters were correlated with body surface area. Based on individual growth of the aortic root a discrimination formula was derived to distinguish Marfan patients from control subjects. RESULTS: Sensitivity and specificity of this method, which were dependent on the number of measurements, were 84% and 73%, respectively, for three serial measurements. The discrimination score also predicted a five year complication free survival in all patients. CONCLUSIONS: In children and adolescents with Marfan syndrome, aortic root growth differs significantly from subjects in whom Marfan syndrome was definitely ruled out during screening. Measurement of individual aortic root growth may serve to establish diagnosis at an early stage and is of prognostic value for occurrence of aortic complications.

Marfan syndrome in children and adolescents: an adjusted nomogram for screening aortic root dilatation.

OBJECTIVE: To construct an adjusted nomogram for the echocardiographic screening of aortic root diameter in children with possible Marfan disease. DESIGN: In 91 children (42 boys, 49 girls, age range 3.2 to 18.4 years) undergoing Marfan screening from 1983 until 1996, the diagnosis Marfan syndrome and any other aortic pathology was definitely ruled out. These served as a control population to set appropriate reference standards. RESULTS: Compared with a standard Dutch reference population, body surface area of the control subjects (mean (SD)) was above the 50th centile (boys 0.09 (0.20) m2, range -0.28 to 0.69 m2; girls 0.09 (0.17) m2, range -0.17 to 0.69 m2). Echocardiographically determined aortic root diameter and body surface area showed a linear relation and a greater variability of aortic root diameter in these relatively tall subjects (n = 91, R2 = 0.62) than in the standard nomogram (n = 56, R2 = 0.93). In 24% of cases (n = 22), the aortic root exceeded the upper limit of normal in the standard nomogram, by 2.2 (2.0) mm. An adjusted nomogram was constructed with a higher upper limit. CONCLUSIONS: A Marfan screening population differs from the unselected population in body surface area and aortic root size variability. An adjusted nomogram should therefore be used to detect a truly enlarged aortic root.

Right ventricular hypoplasia: outcome after conservative perinatal management.

Isolated right ventricular hypoplasia is a rare congenital cardiac anomaly. A case described in which prenatal diagnosis was made by echocardiography. Conservative perinatal management produced a favourable short-term outcome without compromising the definitive surgical intervention later. The decisions were based on principles used in the treatment of pulmonary atresia with intact interventricular septum.

Usefulness of biplane transesophageal echocardiography in neonates, infants and children with congenital heart disease.

A study was performed to assess the feasibility, additional diagnostic value and potential applications of biplane transesophageal echocardiography in neonates, infants and children. One hundred thirty-two consecutive studies were attempted in 111 anesthetized children with congenital heart disease. Longitudinal and transverse planes were compared using 3 methods: (1) separate 7 mm longitudinal and transverse pediatric transducers used sequentially; (2) an experimental 9 x 8 mm biplane pediatric transducer; and (3) a standard adult biplane transducer (12 x 9 or 13 x 9 mm). In all but 1 patient, a probe could be inserted. The longitudinal plane provided superior visualization of both the right and left ventricular outflow tracts, the interatrial septum, the main pulmonary artery, the ascending aorta and the right coronary artery. In 18 patients (16%), the longitudinal plane provided completely new diagnostic information that was not obtained with combined transthoracic and transverse plane transesophageal echocardiography. However, the transverse plane was mandatory for demonstration of the 4-chamber view, short-axis cross sections through the great arteries, the distal right pulmonary artery and bifurcation of the left coronary artery. The longitudinal plane is complementary to the transverse plane, but cannot substitute for it.

Nontransmural myocardial infarction as a complication of untreated cystic fibrosis.

In a 2-year-old boy with untreated cystic fibrosis, an acute deterioration of his chronic respiratory insufficiency developed due to bilateral pneumonia. This condition caused acute right-sided heart failure and nontransmural myocardial infarction of the inferior wall. In concordance with this diagnosis, a marked increase of CPK-MB levels combined with transient severe ischemia on the ECG and the absence of myocardial injury at echocardiography was seen. At 3 years follow-up, he was in good clinical condition.

[Wolff-Parkinson-White syndrome; important in childhood also]. / Het Wolff-Parkinson-White syndroom; ook in de kinderleeftijd van betekenis.

In a cooperative, retrospective, study 120 children are reviewed with preexcitation pattern. 80 patients had tachycardias; 54 children were under 1 year, 49 under 3 months of age at their first attack. In 50% the preexcitation pattern disappeared in the first year of life, allthough intermittent preexcitation could be seen in some patients. In 12 patients a circusmovement tachycardia was proved on the surface ecg; in the group of 63 children with a tachycardia of unknown origin probably more may be caused by this mechanism. A beneficial effect of digoxin in childhood is noticed, with good response in 45 cases. A possible explanation for the difference in effect of digoxin during childhood and in adolescence is discussed.

2D echocardiographic diagnosis of total anomalous pulmonary venous connection of the infradiaphragmatic type.

In two newborn infants with infradiaphragmatic total anomalous pulmonary venous connection the common pulmonary vein was visualized with 2D echocardiography. The transducer was placed in the subcostal region so as to image the descending aorta and the vertebral column. Apart from the aorta and the inferior vena cava a third vessel was identified, lying anterior to the aorta, the proximal part lying behind the left atrium, the distal part curving anterior in the liver, the distal end being distended. These findings are highly characteristic and diagnostic for total anomalous pulmonary venous connection of the infradiaphragmatic type.

Right and left isomerism: the cardiac surgeon's view.

We have treated by palliative or corrective surgery 12 patients with the complex cardiovascular anomalies associated with right isomerism (asplenia syndrome) or left isomerism (polysplenia syndrome). A systemic-pulmonary artery shunt was performed in 4 patients, with 2 early deaths. Anatomical intracardiac repair was successfully done in 2 patients, while an orthoterminal repair using a modified Fontan procedure was attempted in 5 patients, only 1 of whom survived. A 1-year-old girl with diffuse pulmonary arteriovenous fistulas associated with left isomerism was not considered a good candidate for operation after an exploratory sternotomy. The surgical options and technical problems related to the complex intracardiac morphology of these developmental syndromes are presented.