Luis E. Alday

Cardiovascular findings, and clinical course, in patients with Williams syndrome.

AIMS We investigated the incidence and outcome of cardiac malformations in 53 patients with Williams syndrome. METHODS AND RESULTS The mean age, and period of follow-up, were 3.6 and 5.3 years, with standard deviations of 4.0 and 5.6 years, respectively. Of the patients, 45 (85%) had cardiovascular anomalies, often combined. Males presented earlier than females, at the ages of 2.1 years, with standard deviation of 2.8 years, as opposed to 4.5 years, with standard deviation of 4.2 years (p < 0.01). Supravalvar aortic stenosis occurred in 32 patients (71%), pulmonary arterial stenosis in 17 (38%), and mitral valvar prolapse in 12 (27%), 9 of these having regurgitant valves. Pulmonary valvar stenosis, ventricular septal defect, coarctation of the aorta, persistent patency of the arterial duct, hypertrophic cardiomyopathy, and subaortic stenosis all occurred less frequently. In 21 patients (47%), 24 surgical or catheter interventions had been made, most often for repair of supravalvar aortic stenosis, undertaken on 16 occasions with just one recurrence, and in 4 along with surgery to the mitral valve. Other lesions requiring intervention were pulmonary valvar stenosis, pulmonary arterial stenosis, coarctation of the aorta, and subaortic stenosis. We lost 3 patients (7%), with severe supravalvar aortic stenosis and moderate or severe mitral regurgitation, 2 early and one late after surgery. CONCLUSION The most frequent cardiovascular anomalies in Williams syndrome were supravalvar aortic stenosis, pulmonary arterial stenosis, and mitral valvar prolapse, which occurred more frequently in our patients than previously observed. Patients with left ventricular pressure and volume overload were at greater risk.

Juxtaposition of the Atrial Appendages A Report of Six Necropsied Cases

Six cases of juxtaposition of the atrial appendages are documented by necropsied specimens and analyzed. A high incidence of conotruncal anomalies, especially transposition of the great arteries, further A-V valve abnormalities, and pulmonary valve atresia, is found. The recognition of juxtaposition of the atrial appendages during cardiac catheterization should alert the investigator to the presence of a complex cardiac anomaly. A case with a rare type of right juxtaposition of the atrial appendages and bizarre spatial orientation of the atria, ventricles, and great arteries is presented.

Clinical features of hypertrophic cardiomyopathy in the young.

BACKGROUND We analysed the experience with hypertrophic cardiomyopathy in two paediatric centres to establish the differences from older patients. METHODS Out of 45 young patients seen from 1974 to 1999, we included 38. Criterions for exclusion were secondary forms, or association with severe congenital cardiac disease which could alter the outcome. RESULTS The patients presented at the age of 5.7 years, and were followed for 7.0 years. The 34 patients referred because of a murmur or cardiomegaly were older than the four with heart failure, presenting at 6.2 as opposed to 2.1 years of age, p = 0.08. Of the patients, 29 (76%) had primary cardiomyopathy, while 9 (24%) had secondary forms associated with Noonans and LEOPARD syndromes. Familial tendency was ascertained in 7 patients (18%). The septal thickness in mm/m2 at presentation was greater in patients under 2 years than in older children (29 vs 18, p = 0.02). Obstructive hypertrophic cardiomyopathy was found in 17 patients (45%), with six of these having mild associated congenital cardiac defects. Nine had symptomatic arrhythmias. Overall, treatment was medical in 31, with DDD pacing used in 5, and surgery, radiofrequency ablation, and transplantation in one patient each. Total mortality was 24%, at a rate of 4.3% per year. Four patients died in heart failure and 5 had sudden death. Those in failure were significantly younger (p = 0.01). CONCLUSIONS Hypertrophic cardiomyopathy in the young is characterized by referral for murmur or heart failure; frequent secondary forms; the obstructive variant being as common as the non-obstructive form; a mortality rate similar to that for adults attending tertiary centres; and less frequent familial forms than in older populations.

Severe systemic hypertension and muscular subaortic stenosis

Abstract The case of a 15-year-old girl with severe systemic hypertension secondary to chronic pyelonephritis and muscular subaortic stenosis is reported. The severity of the obstruction of the left ventricular outflow tract varied according to the blood pressure levels. Uncontrolled hypertension attenuated the auscultatory signs indicative of stenosis. Augmentation of the obstruction, evidenced by intensification of the murmur, was present when antihypertensive drugs produced orthostatic hypotension. No adequate form of palliation could be offered to this patient because of the coexistence of end-stage renal failure and the severe cardiac disease which led to her death.

Woolly Hair and Palmoplantar Hyperkeratosis May Present with Hypertrophic Cardiomyopathy

Woolly hair and palmoplantar hyperkeratosis is an infrequent autosomal recessive ectodermal disorder that may be associated with arrhythmogenic right ventricular dysplasia (Naxos disease) or dilated cardiomyopathy. We report the sporadic occurrence of the aforementioned skin-hair anomalies in a patient with physical findings compatible with Noonan’s syndrome and hypertrophic cardiomyopathy-an association heretofore not described.

Hypertrophic Cardiomyopathy in Infants and Children

The definition and classification of the cardiomyopathies has been traditionally a complex and quite variable subject. In 2006, the American Heart Association issued a scientific statement elaborated by a task force of experts that contemplated the important development of molecular genetics in recent years, to explain the etiology of the diseases of cardiac muscle, or cardiomyopathies, previously considered idiopathic (B.J. Maron et al., 2006a). The document stated that “Cardiomyopathies are an heterogeneous group of myocardial diseases associated with mechanical and/or electrical dysfunction that usually, but not always, exhibit inappropriate ventricular hypertrophy or dilation, and are originated by a variety of causes, frequently genetic. Cardiomyopathies involve just the heart or are part of systemic disorders that often lead to cardiovascular death or heart failure related disability”. Myocardial damage secondary to coronary atherosclerosis, heart valve disease, congenital heart disease, and systemic hypertension, is excluded from this definition. Primary or metastatic cardiac tumors and diseases primarily affecting the endocardium with minimal or absent myocardial damage neither are included. The document also discourages the use of the classical terminologies hypertrophic, dilated, and restrictive cardiomyopathies because they have overlapping features and often mutate from one type to another during the course of the disease. Cardiomyopathies are then classified into 2 groups, primary when there is only heart involvement, and secondary if the heart is affected by systemic diseases with multiorganic involvement. (Table 1) Primary cardiomyopathies are divided into genetic, acquired, and mixed (genetic and acquired).

A young man with right aortic arch & subclavian steal syndrome: diagnosis by magnetic resonance imaging and color flow Doppler.

A 22-year-old man presented with paresthesias in the left arm, initially with vigorous exercising and more recently with milder activities. Diminished arterial pulses and decreased blood pressure measurements were noticed in the affected arm. On physical examination, he had an athletic build and a systemic blood pressure 40 mmHg lower in the left compared with the right arm. There were no other abnormalities. Chest X-ray showed a right aortic arch. It was then supposed that the left arm paresthesias and the decreased blood pressure were caused by a right aortic arch with stenosis of the origin, or isolation, of a retroesophageal left subclavian artery (LSA), resulting in subclavian steal syndrome. The diagnosis was confirmed by Doppler color-flow imaging, which showed flow reversal of the left vertebral artery (Fig. 1). Magnetic resonance angiography showed, in this order, emergence of the left (LCA) and right common carotid (RCA) arteries and the right subclavian artery (RSA) from a right aortic arch. The LSA, which took off as a fourth vessel from a Kommerell diverticulum from the descending aorta, was severely stenotic at its origin (Fig. 2). The patient was advised to undergo a bypass between the LCA and LSA, but he declined any treatment for the moment. Right aortic arch without associated cardiac defects is a rare anomaly and might be accompanied by stenosis or isolation of the LSA, thus causing subclavian steal [1, 2] The blood pressure gradient between the right and left arms in the presence of a right aortic arch may suggest the diagnosis [3]. Noninvasive confirmation is nowadays readily feasible.