Long QT syndrome and left ventricular non-compaction in a family with KCNH2 mutation: A case report

Background: Left ventricular non-compaction (LVNC) is an abnormality of the myocardium, characterized by prominent left ventricular trabeculae and deep inter-trabecular recesses. Long QT syndrome (LQTS) is a cardiac ion channelopathy presenting with a prolonged QT interval on resting electrocardiogram and is associated with increased susceptibility to sudden death. The association between LVNC and LQTS is uncommon. Case presentation: We report an Italian family with a novel pathogenic KCNH2 variant who presented with clinical features of LVNC and LQTS. The proband came to our attention after two syncopal episodes without prodromal symptoms. His ECG showed QTc prolongation and deep T wave inversion in anterior leads, and the echocardiogram fulfilled LVNC criteria. After that, also his sister was found to have LQTS and LVNC, while his father only presented LQTS. Conclusions: Physicians should be aware of the possible association between LVNC and LQTS. Even if this association is rare, patients with LVNC should be investigated

Single coronary artery originating from right sinus. Role of MDCT and a review of literature

SCA from the right sinus is the rarest coronary anomaly. We describe 2 cases: 1 with SCA type-1RI; 2 with SCA type-2RII-A. Appropriate and successful treatment (CABG in case-1; PTCA in case-2) was chosen relying on accurate morphological description provided by MDCT, in order to recognize all the possible mechanisms of myocardial ischemia

Multi-district coronary tree involvement in a 17-year-old girl with Williams\u2013Beuren syndrome

We describe a case of 17-year-old Chinese girl referred to our Pediatric Cardiology Unit for asthenia, reduced exercise tolerance, and dyspnea. Past medical history was relevant for multiple chest pain episodes in childhood and several syncopal episodes, for which the patient had been never evaluated. Clinical examination, electrocardiogram, and echocardiography were compatible with Williams–Beuren syndrome; such condition was later confirmed by genetic analysis. Cardiac magnetic resonance imaging showed transmural fibrosis of the apex with impaired left ventricular ejection fraction (29 %), severe stenosis of aortic sinotubular junction with left and right coronary ostia involvement; more importantly, the whole coronary artery tree beyond ostia was affected by multiple stenosis and aneurysmatic tracts. Ascending aorta proved hypoplastic, with post-stenotic dilation and multiple aneurysms. At the end of the diagnostic process, surgical risk was considered too high to proceed with the correction. The presented case is of educational value since it provides good iconographical illustration of diffuse, multiple-site coronary artery tree involvement, a rather rare co-morbidity in Williams–Beuren syndrome. ELECTRONIC SUPPLEMENTARY MATERIAL: The online version of this article (doi:10.1186/s40064-015-1231-0) contains supplementary material, which is available to authorized users

La musicoterapia in ambito familiare: l'esperienza della Fondazione Robert Hollman

La nascita di un figlio non vedente e con disabilità plurime comporta dolore e smarrimento nella coppia genitoriale, che si trova di fronte ad un bambino con cui è difficile dialogare, soprattutto perché manca quella reciprocità visiva che tanto restituisce a livello affettivo e relazionale (Winnicott, 1974). E’ importante che questa possa instaurarsi attraverso gli altri canali sensoriali (vocale, tattile, uditivo, motorio) e ciò richiede tempo, perché i genitori devono trovare un modo altro per cogliere ed interpretare i segnali ed i vissuti del loro bambino. È quindi importante che la famiglia possa scoprire e conoscere gradatamente gli strumenti necessari per comprendere il proprio bimbo, al fine di poter instaurare una sana relazione con lui

Parental Satisfaction with the Quality of Care in an Early Intervention Service for Children with Visual Impairment: A Retrospective Longitudinal Study

The fundamental role of vision during development and the nurturing role of early intersubjectivity have enabled the Robert Hollman Foundation to develop an early intervention program providing holistic support to visually impaired children and their families, where fostering parent-infant interactions is at the heart of our care. The aim of this study is to understand how parents perceive this approach. It is an eleven-year retrospective study of children following the Robert Hollman Foundation’s early intervention program, in which parents’ (n = 1086) perceptions of quality of care were measured through the administration of a specifically designed 4-point scale questionnaire. Annual longitudinal trends of parents’ perceptions were calculated for every single response. Parents reported a very high satisfaction value in 21/23 questions (Mean > 3.7 out of a maximum score of 4, with the highest scores in human and soft skills of professionals) with a statistically positive trend (p individualized nurturing relational support, has been appreciated and confirmed by the high satisfaction reported in the questionnaires by parents of children with visual impairment. We therefore hypothesize that parent-infant relationship-based and individualized approaches may help parents achieve better health, well-being, and quality of daily life for their children

Recurrent pulmonary embolization of inflammatory myofibroblastic tumor: a case report

We report a case of inflammatory myofibroblastic tumor affecting the pulmonary artery in a 15-year-old male, presenting with a clinical scenario of recurrent pulmonary embolisms. During diagnostic workup for persistent fever, a mass in main pulmonary artery was detected at echocardiography and confirmed at angio-CT scan. The patient underwent a first successful surgical resection and discharged home with no echocardiographic evidence of residual lesions, but, after 5 months, he was admitted for hemoptysis and an angio CT-scan showed a mass in right pulmonary artery with multiple distal perfusion defects, suspicious for both thrombotic and secondary lesions. To prevent further embolisms, the patient was scheduled for a second surgical procedure, which allowed a complete removal of the tumor from major branches of right pulmonary arteries. Our experience highlights that, despite of its intermediate malignancy, inflammatory myofibroblastic tumor may behave as an extremely dangerous condition, requiring multiple surgeries an integrated and multidisciplinary approach

3D reconstruction for preoperative planning of partial anomalous pulmonary venous return

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Cardiac Arrhythmias in Pediatric Age: Are They Triggered by SARS-CoV-2 Infection?

Coronavirus disease 2019 is a highly contagious infectious disease. Research on heart rhythm disorders in children affected by COVID-19 infection is quite lacking. An infant and a congenital heart disease (CHD) teenager with a pacemaker presented fascicular tachycardia and atrial flutter, respectively, during COVID-19 pauci-symptomatic infection. The hemodynamic condition was always stable. The self-resolving trend of the atrial flutter and progressive resolution of the ventricular tachycardia occurred in conjunction with the negativization of the swab. These particular tachyarrhythmias have been reported as a form of potential arrhythmic complication during active pauci-symptomatic COVID-19 infection for the first time ever

Systemic hypertension in adults with congenital heart diseases

Long-term effects of systemic hypertension (HTN) and HTN-mediated damages have been largely studied in non-congenital adult populations. By contrast, robust data about the predisposing factors, prevalence, consequences, and treatment of HTN in adults with congenital heart diseases (ACHD) is still scarce. Different mechanisms including the underlying cardiac disease, cardiac surgery and its consequences, the development of metabolic syndrome and secondary forms seem to play a role in HTN in ACHDs. To mitigate the potential long-term effects of HTN in this complex population, a meticulous follow-up is mandatory to identify patients who should receive treatment, and tailored strategies should be applied to obtain the best as possible result.Thus, this review will investigate risk factors, effects, and treatments of HTN in ACHD patients