Clinical Manifestations of 22q11.2 Deletion Syndrome.

DiGeorge syndrome (DGS), also known as "22q11.2 deletion syndrome" (22q11DS) (MIM # 192430 # 188400), is a genetic disorder caused by hemizygous microdeletion of the long arm of chromosome 22. In the last decades, the introduction of fluorescence in situ hybridization assays, and in selected cases the use of multiplex ligation-dependent probe amplification, has allowed the detection of chromosomal microdeletions that could not be previously identified using standard karyotype analysis. The aim of this review is to address cardiovascular and systemic involvement in children with DGS, provide genotype-phenotype correlations, and discuss their medical management and therapeutic options.

The Heart Muscle and Valve Involvement in Marfan Syndrome, Loeys-Dietz Syndromes, and Collagenopathies.

The inherited connective tissue disorders (Marfan syndrome, Loeys-Dietz syndrome [LDS], and Ehlers-Danlos syndrome [EDS]) involve connective tissue of various organ systems. These pathologies share many common features, nonetheless compared to Marfan syndrome, LDS' cardiovascular manifestations tend to be more severe. In contrast, no association is reported between LDS and the presence of ectopia lentis. The EDS are currently classified into thirteen subtypes. There is substantial symptoms overlap between the EDS subtypes, and they are associated with an increased incidence of cardiovascular abnormalities, such as mitral valve prolapse and aortic dissection.

Genetics of Takotsubo Syndrome.

Takotsubo syndrome (TTS) is an enigmatic disease with a multifactorial and still unresolved pathogenesis. A genetic predisposition has been suggested based on the few familial TTS cases. Conflicting results have been published regarding the role of functional polymorphisms in relevant candidate genes, such as α1-, ß1-, and ß2-adrenergic receptors; G protein-coupled receptor kinase 5; and estrogen receptors. Further research is required to help clarify the role of genetic susceptibility in TTS.

Management of pregnancy in cardiomyopathies and heart failure.

Pregnancy exposes women with inherited cardiomyopathies to increased risk for arrhythmias and heart failure. In asymptomatic patients with inherited cardiomyopathies, pregnancy is generally well tolerated. Preconception evaluation, risk assessment and proper counseling by a team of experienced physicians are mandatory in managing women with inherited cardiomyopathies planning pregnancy. In this paper, we reviewed the clinical course, risk assessment and management during pregnancy of women with cardiomyopathies.

The Role of Multimodality Cardiac Imaging for the Assessment of Sports Eligibility in Patients with Bicuspid Aortic Valve.

Bicuspid aortic valve (BAV) cannot be considered an innocent finding, but it is not necessarily a life-threatening condition. Athletes with BAV should undergo a thorough staging of the valve anatomy, taking into consideration hemodynamic factors, as well as aortic diameters and looking for other associated significant cardiovascular anomalies by use of a multimodality cardiac imaging approach. Furthermore an accurate follow-up is mandatory with serial cardiological controls in those allowed to continue sports.

[Obesity in children and hypertension]. / Obesità in età pediatrica ed ipertensione arteriosa.

According to the World Health Organization, obesity is one of the most common nutritional problem among children. The major determinant of this enormous increase in obesity prevalence is modern lifestyle and the consumption of very caloric foods such as fast-food products. Actually, there is a strong relationship between obesity and hypertension, type 2 diabetes mellitus, dyslipidemia, obstructive sleep apnea, and orthopedic problems. The aim of this review is to discuss the main mechanisms that link obesity to cardiovascular disease.

Atrial myocardial deformation properties in obese nonhypertensive children.

BACKGROUND: Obesity in adulthood is associated with a higher occurrence of atrial arrhythmias. Obese children, without arterial hypertension, may be a unique clinical opportunity to evaluate the effect of obesity, per se, on atrial myocardial function, excluding the influence of possible comorbidities. We sought to define the preclinical effects of obesity on the atrial function of healthy children with excess weight who have no other clinically appreciable cause of heart disease, by using the more sensitive ultrasonic-derived strain (S) and S rate imaging. METHODS: We studied 320 children divided into two groups: obese children (group O; n = 160; age 12 +/- 3 years); and healthy lean children, comparable for age, sex, and pubertal stage (referents; n = 160; mean age 12 +/- 3 years). RESULTS: Systolic blood pressure (BP) and diastolic BP, as well as 24-hour systolic BP and 24-hour diastolic BP were comparable between groups. Left ventricular mass/height(2.7) and left atrial dimensions were increased (P < .0001) in group O (46 +/- 12 g/m(2.7)) compared with referents (31 +/- 14 g/m(2.7)). Standard echocardiographic indices of global left ventricular systolic function were similar in the two groups. Obese children showed atrial peak systolic S rate (2.5 +/- 1.2 (s-1)) values lower (P < .0001) than that of referents (4.9 +/- 1.6(s-1)) in both left and right atria. In multivariable analysis, average peak systolic atrial S was significantly correlated with glycemia (P < .05, coefficient -0.23), body mass index (P < .01, coefficient -0.19), and left ventricular mass (P < .05, coefficient -0.17). CONCLUSIONS: Our study demonstrated that obesity, in absence of hypertension, is associated with reduced atrial myocardial deformation properties already in childhood involving both right and left atria.

Abnormal myocardial deformation properties in obese, non-hypertensive children: an ambulatory blood pressure monitoring, standard echocardiographic, and strain rate imaging study.

AIMS: The prevalence of obesity is increasing among children in the developed world. The association of obesity and abnormal cardiac function is still debated. The reported changes may reflect the role of comorbidities that contribute to ventricular dysfunction. Obese children, without arterial hypertension, may be a unique clinical opportunity to evaluate the effect of obesity, per se, on myocardial function, excluding the influence of possible comorbidities. We sought to define the preclinical effects of obesity on the cardiovascular system, of healthy children with excess weight who have no other clinically appreciable cause of heart disease, using the more sensitive ultrasonic-derived strain and strain rate (SR) imaging. METHODS AND RESULTS: We studied 300 subjects divided into two groups: (i) obese children (Group O: n=150; age, 12+/-3 years); (ii) healthy lean children comparable for age, sex, and pubertal stage (Referents: n=150; mean age, 12+/-3 years). Systolic (SBP) and diastolic blood pressure (DBP), as well as 24 h-SBP and 24 h-DBP were comparable between groups. Left ventricular (LV) mass/height(2.7) was increased (P<0.0001) in Group O (46+/-12 g/m(2.7)) when compared with Referents (31+/-14 gm(2.7)). Standard echocardiographic indices of global systolic function were similar in the two groups. Intima-media thickness measured at the common carotid artery was not significantly different (P=0.4) in obese children (0.46+/-0.09 mm) when compared with Referents (0.45+/-0.07 mm). Obese children showed regional longitudinal peak systolic myocardial deformation properties (SR=-1.4+/-0.7 s(-1)) lower (P<0.0001) than those of Referents (SR=-2.2+/-0.5) in both left and right ventricle. In multivariable analysis, average peak systolic SR was significantly correlated with homeostasis model assessment of insulin resistance (P<0.01; coefficient, 0.02; SE, 0.011), and insulin serum concentration (P<0.01; coefficient, 0.05; SE, 0.023). Average LV peak systolic strain was significantly correlated with body mass index (P=0.0001; coefficient, 0.06; SE, 0.016), LVM/H(2.7) (P=0.006; coefficient, 0.016; SE, 0.018). CONCLUSIONS: Our study demonstrated that obesity, in absence of hypertension, is associated with significant reduction in systolic myocardial deformation properties already in childhood involving both right and left ventricle. Obesity not only is a risk factor for later cardiovascular disease, but also is associated with contemporaneous and significant impairment of longitudinal myocardial deformation properties.