Asymmetrical aortic root aneurism in patient with Filamin A mutation.

We report the case of a 28 years old woman with periventricular nodular heterotopia, due to Filamin A mutation. She had an asymmetrical aneurysm of the aortic root, involving, above all, noncoronary Valsalva sinus. She was asymptomatic and she had moderate aortic regurgitation. Reimplantation of the aortic valve with replacement of the aortic root was successfully accomplished. Filamin A is a protein that is encoded by the FLNA gene, which shows X-linked dominant inheritance. This protein is involved in neuronal migration, angiogenesis, cytoskeleton regulation, and cell signaling. Therefore, mutations of FLNA gene might result in brain, blood vessels, heart, and connective tissue disorders. A miscellany of cardiovascular abnormalities could be present in this subset of patients; cardiac symptoms may precede neurological manifestations. Aorta seems to be frequently affected. Consequently, in presence of FLNA gene mutations, cardiovascular evaluation should include vascular magnetic resonance imaging or computed tomography scan.

Aortic root aneurysm in a patient with Aarskog-Scott syndrome.

We present the case of a 69 years old man affected by Aarskog-Scott syndrome. He came to our attention for an aneurysm of the aortic root, with almost moderate aortic regurgitation; moderate mitral regurgitation was discovered during preoperative assessment. We performed a modified Bentall's procedure and mitral valve repair. A patent foramen ovale was closed. Aarskog-Scott syndrome is a complex developmental disorder, characterized by X-linked recessive hereditariness short stature, craniofacial abnormalities, hyperextension of the proximal interphalangeal joints, and genital malformations. Diagnosis is still a challenge, in light of various clinical pictures and features in common with other syndromes (i.e., Noonan, SHORT, and Robinow syndromes). It has been longly debated if cardiac surveillance is needed among the affected patients; it should be probably undertaken, in view of the higher incidence of congenital heart disease. Moreover, the presence of extremely flexible joints suggests the coexistence of a connective tissue disorder.

AVR in patients with anomalous course of the circumflex artery without prosthetic downsizing.

An anomalous origin of the left circumflex coronary artery that arises as a side branch of the right coronary artery and encircles the aortic annulus is usually an incidental finding. However, in patients undergoing aortic valve/root procedures, its existence can significantly complicate the surgical treatment. We report our operative strategy with three different prostheses without valve downsizing.

[Risk stratification after acute myocardial infarction: limitations of dobutamine stress echocardiography in females]. / Stratificazione del rischio dopo infarto miocardico acuto: limiti dell'eco-stress dobutamina nel sesso femminile.

BACKGROUND: Dobutamine stress echocardiography (DSE) is an imaging test widely used for risk stratification of patients after acute myocardial infarction. METHODS: We evaluated the sensitivity of DSE with respect to the gender and the stenotic coronary artery in patients who survived a myocardial infarction and with angiographic evidence of single-vessel coronary artery disease. RESULTS: The sensitivity of DSE was generally low. In particular, it was significantly lower in the presence of stenosis of the left circumflex and right coronary arteries with respect to the left anterior descending coronary artery. In females it was lower, especially when the stenosis involved the right coronary and left circumflex arteries. CONCLUSIONS: Our data suggest that in female gender the use of other imaging tests and particularly of coronarography should be strongly recommended for risk stratification after acute myocardial infarction.

[Infusion of flecainide in a patient with atrial fibrillation and latent Brugada's syndrome has determined modifications of the electrocardiogram similar to those of a septal myocardial infarct]. / L'infusione di flecainide in un paziente con fibrillazione atriale e sindrome di Brugada latente ha determinato modificazioni dell'elettrocardiogramma simili a quelle di un infarto miocardico settale.

ST-segment elevation in the presence of typical chest pain is a fundamental criterion for the diagnosis of acute myocardial infarction. We describe the case of a 62-year-old male with latent Brugada syndrome in whom the intravenous infusion of flecainide for paroxysmal atrial fibrillation caused ECG abnormalities similar to those of an acute septal myocardial infarction. The patient was not submitted to systemic thrombolysis since accurate echocardiographic evaluation was not suggestive of the presence of any wall motion abnormality and blood analysis did not reveal any increase in the levels of myocardial enzymes. The clinical outcome was not complicated and the patient was finally discharged.