Cardiovascular findings in Williams-Beuren Syndrome: Experience of a single center with 127 cases.

Williams-Beuren syndrome (WBS) is a rare, microdeletion syndrome characterized by facial dysmorphisms, intellectual disability, a friendly personality, cardiovascular and other abnormalities. Cardiovascular defects (CVD) are among the most prevalent characteristics in WBS, being supravalvular aortic stenosis (SVAS) the most frequent, followed by peripheral pulmonary stenosis (PPS). A comprehensive retrospective review of medical records of 127 patients with molecular diagnosis of WBS, in a period of 20 years, was done to evaluate the incidence, the natural history of cardiovascular disease, and the need for surgical intervention, including heart transplantation (HT). A total of 94/127 patients presented with CVD. Of these 94 patients, 50% presented with SVAS and 22.3% needed heart surgery and/or cardiac catheterization including one that required HT due to severe SVAS-related heart failure at 19 years of age. The patient died in the postoperative period due to infectious complications. Cardiovascular problems are the major cause of sudden death in patients with WBS, who have a significantly higher mortality risk associated with surgical interventions. There is a higher risk for anesthesia-related adverse events and for major adverse cardiac events following surgery. End-stage heart failure due to myocardial ischemia has been described in WBS patients and it is important to consider that HT can become their only viable option. To our knowledge, the case mentioned here is the first HT reported in an adolescent with WBS. HT can be a viable therapeutic option in WBS patients with adequate evaluation, planning, and a multidisciplinary team to provide the required perioperative care and follow-up.

Characterization of the electrocardiographic pattern of individuals with cerebral palsy.

BACKGROUND: Dentists of Lar São Francisco observed during dental treatment that children with cerebral palsy (CP) had increased heart rate (HR) and lower production of saliva. Despite the high prevalence of CP found in the literature (2.08-3.6/1000 individuals), little is known about the electrocardiographic (ECG) characteristics, especially HR, of individuals with CP. OBJECTIVE: This study aimed to investigate the hypothesis that individuals with CP have a higher HR and to define other ECG characteristics of this population. METHODS: Ninety children with CP underwent clinical examination and 12-lead rest ECG. Electrocardiographic data on rhythm, HR, PR interval, QRS duration, P/QRS/T axis, and QT, QTc and T(peak-end) intervals (minimum, mean, maximum, and dispersion) were measured and analyzed then compared with data from a control group with 35 normal children. Fisher and Mann-Whitney U tests were used, respectively, to compare categorical and continuous data. RESULTS: Groups cerebral palsy and control did not significantly differ in age (9 ± 3 × 9 ± 4 years) and male gender (65% × 49%). Children with CP had a higher HR (104.0 ± 20.6 × 84.2 ± 13.3 beats per minute; P < .0001), shorter PR interval (128.8 ± 15.0 × 138.1 ± 15.1 milliseconds; P = .0018), shorter QRS duration (77.4 ± 8.6 × 82.0 ± 8.7 milliseconds; P = .0180), QRS axis (46.0° ± 26.3° × 59.7° ± 24.8°; P = .0024) and T-wave axis (34.3° ± 28.9° × 42.9° ± 17.1°; P = .034) more horizontally positioned, and greater mean QTc (418.1 ± 18.4 × 408.5 ± 19.4 milliseconds; P = .0110). All the electrocardiogram variables were within the reference range for the age group including those with significant differences. CONCLUSION: Children with CP showed increased HR and other abnormal ECG findings in the setting of this investigation. Further studies are needed to explain our findings and to correlate the increased HR with situations such as dehydration, stress, and autonomic nervous disorders.

Friedreich's ataxia: cardiac evaluation of 25 patients with clinical diagnosis and literature review.

OBJECTIVE: Cardiac evaluation (clinical, electrocardiographic and echocardiographic) of 25 Brazilian patients with clinical diagnosis of Friedreich's ataxia (FA) related to the frequency and the size of GAA repeats (unstable expansion of trinucleotide repeats that results in the disease). METHODS: Clinical and cardiac study including electrocardiogram and echocardiogram of all patients and molecular analysis to detect the frequency and the size of GAA expansion, by polymerase chain reaction analysis. RESULTS: Homozygous GAA expansion was detected in 17 patients (68%) - all typical cases. In 8 (32%) cases (6 atypical and 2 typical), no GAA expansion was observed, therefore it was not considered Friedreich's ataxia. All patients with GAA expansion (100%) had electrocardiographic abnormalities, and only 25% of the cases without GAA expansion had some abnormality on this exam. However, only 6% of all patients revealed some signals/symptoms suggestive of cardiac involvement. CONCLUSION: A molecular analysis is essential to confirm the diagnosis of Friedreich's ataxia; however, an adequate cardiac evaluation, including an electrocardiogram, was extremely useful to better screening the patients which should perform these molecular analysis.

Ataxia de Friedreich. Avaliação cardiáca de 24 pacientes com diagnóstico clínico e revisão da literatura / Friedreich's ataxia. Cardiac evaluation of 25 patients with clinical diagnosis and literature review

OBJECTIVE - Cardiac evaluation (clinical, electrocardiographic and echocardiographic) of 25 Brazilian patients with clinical diagnosis of Friedreich's ataxia (FA) related to the frequency and the size of GAA repeats (unstable expansion of trinucleotide repeats that results in the disease). METHODS - Clinical and cardiac study including electrocardiogram and echocardiogram of all patients and molecular analysis to detect the frequency and the size of GAA expansion, by polymerase chain reaction analysis. RESULTS - Homozygous GAA expansion was detected in 17 patients (68 percent) -- all typical cases. In 8 (32 percent) cases (6 atypical and 2 typical), no GAA expansion was observed, therefore it was not considered Friedreich's ataxia. All patients with GAA expansion (100 percent) had electrocardiographic abnormalities, and only 25 percent of the cases without GAA expansion had some abnormality on this exam. However, only 6 percent of all patients revealed some signals/symptoms suggestive of cardiac involvement. CONCLUSION - A molecular analysis is essential to confirm the diagnosis of Friedreich's ataxia; however, an adequate cardiac evaluation, including an electrocardiogram, was extremely useful to better screening the patients which should perform these molecular analysis

Achados cardíacos em 31 pacientes com síndrome de Noonan / Cardiac findings in 31 patients with Noonan's syndrome

OBJECTIVE: To evaluate cardiac findings in 31 Noonan syndrome patients. METHODS: Thirty-one (18 males and 13 females)patients from 26 families affected with Noonan's syndrome were evaluated from the cardiac point of view with electrocardiography and echodopplercardiography. RESULTS: Twenty patients had some type of cardiac abnormality. The most frequent was pulmonary valve stenosis followed by hypertrophic myocardiopathy, commonly associated with valve defects. Upper deviation of the QRS axis was observed in 80 percent of these patients. CONCLUSION: In view of the high frequency and diversity of cardiac abnormalities present in Noonan syndrome, cardiac evaluation with electrocardiography and echocardiography should be performed in all patients diagnostically suspected of having this disease