Echocardiographic assessment of cardiac function and morphology in patients with generalised lipodystrophy

Because cardiomegaly has been observed in lipodystrophic patients we studied cardiac morphology and function with one- and two-dimensional echocardiography in addition to general cardiologic examination in a series of seven patients. Muscular hypertrophy with increased chamber size and myocardial indentations were found. Two patients had asymmetrical septal hypertrophy (ASH), and two patients demonstrated systolic anterior movement (SAM) of the mitral valve. Wall motion analysis showed anomalities in four patients during contraction, in three during the early relaxation phase. Since pathological findings, probably increasing with age, were made in the majority of the patients, these findings add an additional unfavourable aspect to the syndrome.Abbreviations ASH asymmetrical septal hypertrophy - SAM systolic anterior movement - CGL congenital generalised lipodystrophy - ATL acquired total lipoatrophy - LA/Ao left atrial/aortic ratio - NRDD normalised rate of diameter decrease - NRID reduced rate of increased diameter - HOCM hypertrophic obstructive cardiomyopathy - VCF velocity of circumferencial fiber shortening     

Cushing's syndrome in pregnancy and neonatal hypertrophic obstructive cardiomyopathy

Cushing's syndrome is rare in pregnancy but can cause spontaneous abortion, stillbirth or premature birth. We report a case of transient hypertrophic obstructive cardiomyopathy in a newborn whose mother had hypercortisolism due to a primary adrenal lesion. There was no family history of hypertrophic obstructive cardiomyopathy. Follow-up revealed complete resolution of the cardiac abnormalities in the infant. Cushing's syndrome in the mother resolved after delivery. Although maternal hypercortisolism seldom results in symptomatic hypercortisolism in the newborn, hypertrophic obstructive cardiomyopathy can occur.     

PTPN11 gene mutations: linking the Gln510Glu mutation to the “LEOPARD syndrome phenotype”

We describe the “LEOPARD syndrome (LS) phenotype” associated with the Gln510Glu mutation of the PTPN11 gene in two patients presenting with rapidly progressive severe biventricular obstructive hypertrophic cardiomyopathy and structural abnormalities of the mitral valve, facial anomalies, café-au-lait spots and multiple lentigines.     

Ventricular dysrhythmias in children with Marfan's syndrome

A teenager with Marfan's syndrome required resuscitation and was found to have multiform premature ventricular contractions and ventricular tachycardia. Of 24 children with Marfan's syndrome, eight (33.3%) were found to have ventricular dysrhythmias, including three with ventricular tachycardia. Six of these eight patients had mitral valve prolapse, and five had prolonged QT or QTU intervals corrected for heart rate. However, only two patients had severe mitral regurgitation, five had only mild heart disease, and one had no detectable heart lesion. The role of mitral valve prolapse and/or delayed repolarization in the development of ventricular dysrhythmia was explored. Delayed repolarization, especially when combined with mitral valve prolapse, is associated with occurrence of ventricular dysrhythmia. Serious ventricular dysrhythmia can occur in children with Marfan's syndrome with or without substantial valve disease, and the dysrhythmia appears to progress with age.     

Reversible obstructive hypertrophic cardiomyopathy in the Beckwith-Wiedemann syndrome

Summary Patients with the Beckwith-Wiedemann (B-W) syndrome have been reported to have an increased risk of congenital heart disease and of idiopathic cardiomegaly on chest x-ray. In the infant described here, reversible obstructive hypertrophic cardiomyopathy was documented and its relationship to the metabolic features of the B-W syndrome is discussed.     

Single papillary muscle of the left ventricle associated with persistent common atrioventricular canal: Variant of parachute mitral valve

Summary Six cases of single papillary muscle of the left ventricle in persistent common atrioventricular canal (AVC) are described. Except for one case with double outlet right ventricle and AVC, in the other five cases AVC occurred with normally related great vessels. Down's syndrome was present in two cases. The mitral valvular condition in AVC is not the classic parachute mitral valve since the separation between the common anterior and the common posterior leaflet leaves a space (cleft) oriented toward the ventricular septum. This mitral valve in AVC may or may not be obstructive. The common anterior leaflet fixed to the ventricular septum may result in obstruction. Clinically, single left ventricular papillary muscle should be suspected if the AVC is associated with coarctation of the aorta or tubular hypoplasia of the aortic arch. This type of mitral valve in AVC may also be associated with double outlet right ventricle. Preoperative recognition of the single papillary muscle by echocardiogram or left ventriculogram will prevent postoperative mitral obstruction following closure of the mitral cleft.     

Bilateral Coronary Artery Dilatation and Supravalvular Pulmonary Stenosis in a Child with Noonan Syndrome

Noonan syndrome is the second most frequent congenital malformation syndrome, after Down syndrome, associated with cardiovascular abnormalities. The most prevalent cardiovascular abnormalities in Noonan syndrome are pulmonary stenosis and hypertrophic cardiomyopathy. We report the case of a 12-year-old girl with Noonan syndrome who had multiple cardiovascular abnormalities, including extensive bilateral coronary artery dilatation, valvular and supravalvular pulmonary stenosis, atrial septal defect, and mitral valve prolapse. Both coronary artery dilatation and supravalvular pulmonary stenosis, although rarely reported, are abnormalities of the cardiovascular system that may occur in Noonan syndrome.     

Severe mitral insufficiency in mucopolysaccharidosis type III-B (Sanfilippo syndrome)

Summary A 6-year-old girl with mucopolysaccharidosis (MPS) III-B (Sanfilippo syndrome) who developed severe mitral regurgitation and congestive heart failure requiring surgery (valvuloplasty) is reported. One year after surgery the patient remains well, with marked improvement in her physical activity, and without signs of heart failure. This is only the second report of severe mitral regurgitation in MPS III, and is the first report of a successful repair (valvuloplasty) of a dysplastic mitral valve in the MPS. Mitral valvuloplasty should be considered instead of valve replacement in any MPS patient with mitral valve regurgitation requiring surgery.     

Sudden death in sports

I have stressed the known medical and environmental factors associated with unexpected, sudden death in sports in children, and I have recommended restrictions or environmental alterations to prevent sudden death associated with an individual sport. Medical problems such as cardiomyopathies, posterior mitral valve leaflet syndrome, and underlying congenital heart problems have been related, when possible, to their role in sudden deaths related to sport. I have emphasized the abnormalities of hypertrophic cardiomyopathy, Marfan's syndrome, and the need to monitor constantly the medical, environmental, and safety factors for all sports in which our youth now actively participate.     

Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal

OBJECTIVE: To report the relative prevalence of various forms of congenital heart disease (CHD) in children with Noonan syndrome (NS) and to describe anatomic characteristics of the subgroup of patients with atrioventricular canal (AVC). STUDY DESIGN: Phenotypic and cardiologic examinations were performed in 136 patients with NS and CHD evaluated at our hospital from January 1986 to December 1998. Cardiac evaluation included chest x-ray film, electrocardiogram, 2-dimensional and color Doppler echocardiography, cardiac catheterization with angiocardiography, and cardiac surgery. RESULTS: The CHDs classically reported in NS, including pulmonary stenosis (39%), hypertrophic cardiomyopathy (10%), atrial septal defect (8%), and tetralogy of Fallot (4%), are well represented in our series; however, aortic coarctation (9%) and anomalies of the mitral valve (6%) may also occur in this syndrome. Moreover, AVC was diagnosed in 21 patients, representing 15% of all CHDs in our series. All patients showed a partial form of AVC, and an associated subaortic stenosis caused by additional anomalies of the mitral valve was detected in 5 of 21 (23.8%) of those patients. CONCLUSION: Left-sided lesions, such as aortic coarctation and anomalies of the mitral valve, are not rare in patients with NS and CHD. Moreover, in this syndrome AVC is quite frequent, the partial form is prevalent, and subaortic stenosis caused by additional anomalies of the mitral valve may be present. This information should be taken into consideration during the cardiologic evaluation of children with NS.     

More codeine fatalities after tonsillectomy in North American children

In 2009 we reported the fatal case of a toddler who had received codeine after adenotonsillectomy for obstructive sleep apnea syndrome. The child was an ultra-rapid metabolizer of cytochrome P4502D6 (CYP2D6). We now report 3 additional fatal or life-threatening cases from North America. In the 2 fatal cases, functional gene duplications encoding for CYP2D6 caused a significantly greater production of potent morphine from its parent drug, codeine. A severe case of respiratory depression in an extensive metabolizer is also noted. These cases demonstrate that analgesia with codeine or other opioids that use the CYP2D6 pathway after adenotonsillectomy may not be safe in young children with obstructive sleep apnea syndrome.     

Risks and benefits of cardiac surgery in Down's syndrome with congenital heart disease]

Down's syndrome is the most frequent chromosomic anomaly. Fifty percent are associated with a congenital heart disease. Life expectancy and quality of life are increasing since 15 years with improving surgical techniques. PATIENTS AND METHODS: This study presents 73 patients with Down's syndrome who underwent a surgical repair of congenital heart disease between 1992 and 2002. Among them, 37 (50.6%) had a complete atrio-ventricular septal defect (AVSD) and 36 an other anomaly. RESULTS: Five children died in the post operative period: all had an AVSD. Two late deaths occurred due to extra cardiac causes during the follow up. Two children who underwent a repair of AVSD had to be reoperated. The majority of the children are doing well, without any cardiac symptom. Thirty-eight percent of patients with AVSD repair have a middle mitral or tricuspid regurgitation and three had a massive mitral or tricuspid regurgitation. One child presents neurological sequelae related to surgery. CONCLUSION: Congenital heart diseases in Down's syndrome can be repaired with a limited risk of death. Final results are good for many children with significant improvement of the quality of life and life expectancy.     

Angiocardiographic and vectorcardiographic findings in Noonan's syndrome (author's transl)]

The angiocardiographic and vectorcardiographic findings in 18 patients with Noonan's syndrome are presented. The excentric hypertrophy of the left ventricle affecting the superior portion of the anterior wall, the posteroinferior portion and the septum was primarily investigated. The predominant lesion was left ventricular deformity. In one case only a hemodynamic burden was caused by the excentric hypertrophy. It could be demonstrated that angiocardiographically and vectorcardiographically differentiation between idiopathic hypertrophic subaortic stenosis and excentric hypertrophy in Noonan's syndrome is impossible. A good correlation however, existed between the morphological structures and the angiocardiographic aspect as well as the vectorcardiographic findings. If hemodynamic burden of the left ventricle is present, identical therapy is proposed for Noonan's syndrome as for idiopathic hypertrophic subaortic stenosis. Left heart catheterization is therefore indicated to prove excentric hypertrophy.     

ULTRASOUNDCARDIOGRAPHY IN INFANTS AND CHILDREN

Ultrasoundcardiography (UCG) studies have been performed in about three hundred children. The age of the children varied between 1 day and 16 years. Most of the studies have been performed without premedication and all without discomfort. The UCG-technique has been found valuable for demonstration of dilatation of the right ventricle both in cyanotic and acyanotic congenital heart disease. In studies of lesion affecting the tricuspid valve pathological UCG-findings have been obtained in patients with tricuspid atresia and Ebsteins anomaly. The method has also been found useful in evaluation of the state of the mitral valve. Pathological findings have been obtained in congenital mitral stenosis, mitral atresia and other forms of hypoplastic left heart syndrome, in endocardial cushion defects and in mitral regurgitation. The UCG-technique also provides information about the outflow tract of the left ventricle. Pathological findings have been obtained in cases with membraneous subvalvular aortic stenosis and hypertrophic obstructive cardiomyopathy. Pericardial effusion and thrombosis in the right atrium may be demonstrated by this technique. No complications have been observed.     

Obstructive sleep apnea syndrome in a child with trisomy 21

Pulmonary hypertension without any cardiovascular malformation was diagnosed by heart catheterization in a 4 year old girl with trisomy 21. A suspected obstructive sleep apnea syndrome was confirmed by polysomnography which revealed numerous obstructive apneas and hypopneas (apnea-index 23/h) with marked oxygen desaturation and a disturbed sleep pattern. Three months after adenotonsillectomy the mother reported her daughter having a quiet sleep without snoring. Polysomnography did not show any apnea nor any oxygen desaturation below 90%. A decrease of the pulmonary artery pressure was documented. Facial dysmorphias and muscle hypotonia predispose patients with trisomy 21 to obstructive sleep apnea, especially if hypertrophy of tonsills and adenoids coexist. Frequent arousals and hypoxia during sleep can result in failure to thrive and pulmonary hypertension. These consequences can be prevented by early diagnosis and treatment.     

Hypertrophic osteoarthropathy in a young child with adult respiratory distress syndrome (ARDS) secondary to burns

A case of hypertrophic osteoarthropathy (HOA) is presented in a 14-month-old girl with adult respiratory distress syndrome (ARDS) secondary to severe burn injury. The child developed clubbing during a lengthy and tumultuous hospitalization for her underlying lung disease, and hypertrophic osteoarthropathy was demonstrated radiologically.     

Doppler Echocardiographic Evaluation of an Infant with HCM during ACTH Therapy

Adrenocorticotropic hormone (ACTH) therapy is useful in the treatment of patients with West syndrome, and hypertrophic cardiomyopathy (HCM) in association with ACTH therapy has recently been reported. We describe the Doppler echocardiographic evaluation of an infant who had West syndrome and HCM. ACTH therapy produced increases in the interventricular septal thickness, the pressure gradient of the left ventricular outflow tract, and the heart rate. Doppler echocardiographic examination was found to be much more sensitive for monitoring the cardiac changes than either 2-dimensional echocardiography or the heart rate.     

Reye's syndrome associated with acute myocarditis and fatal circulatory failure.

We describe an eight-month-old infant who had an unusually fulminant and fatal course of Reye's syndrome. The patient died 36 hours after admission because of irreversible circulatory failure not associated with clinical symptoms of increased intracranial pressure or cerebral herniation. Autopsy revealed the pathognomonic fatty degeneration of the liver and heart of Reye's syndrome, but the brain was normal. In addition, a marked inflammatory infiltration of the myocardium was also observed, which indicated that acute myocarditis had been the preceding underlying disease. This case report emphasizes the fact that the viral prodrome preceding Reye's syndrome may not be as benign as often observed with influenza and varicella. Acute myocarditis and Reye's syndrome are also a combination which may result in fatal cardiovascular collapse.     

Mitral valve prolapse syndrome in children with Duchenne's progressive muscular dystrophy.

Myocardial function was evaluated prospectively by noninvasive methods in 20 boys with clinical, biochemical, muscle biopsy, and electromyographic evidence of Duchenne's progressive muscular dystrophy. Auscultatory evidence of a nonejection systolic click suggested mitral valve prolapse (MVP) syndrome in seven patients. Phonocardiography disclosed that the click was mid-systolic in four patients and early in three. Echocardiographic features consistent with this diagnosis were identified in all seven patients and in an additional four. One of these had an apical pansystolic murmur, suggestive of mitral regurgitation, whereas in the other three, prolapse of the mitral valve was "silent". Echocardiographic findings included an abrupt midsystolic, posterior motion (greater than 3 mm beyond the CD line) in five patients, multiple sequence echoes in six, and posterior coaptation of the mitral valve near the left atrial wall in six. The features most characteristic of MVP syndrome was a smooth, pansystolic, anteriorly concave (hammock-like) posterior motion deviating more than 3 mm beyond the CD line. Among the remaining nine patients who did not have echocardiographic evidence of prolapsing mitral valve, none had an early, middle or late nonejection systolic click or a heart murmur, although four patients in this group had moderate to severe scoliosis. These observations document of occurrence of MVP syndrome in children with Duchenne's muscular dystrophy and indicate that its prevalence is high. We speculate that prolapse of the mitral valve in these patients is an expression of the underlying cardiomyopathy characteristic of Duchenne's muscular dystrophy rather than an isolated, dystrophic involvement of the mitral valve leaflets.     

LEOPARD syndrome and hypertrophic obstructive cardiomyopathy: a case report

The LEOPARD syndrome is a rare, autosomal dominant multisystemic disorder characterized by lentiginosis, ocular hypertelorism, abnormal genitalia, growth retardation, sensorineural deafness, and cardiac and electrocardiographic abnormalities. Although it is not cited, hypertrophic cardiomyopathy is often associated with the disease. In this study, we present a nine-year-old boy with LEOPARD syndrome and hypertrophic obstructive cardiomyopathy.