Phenotypic Expression, Natural History, and Risk Stratification of Cardiomyopathy Caused by Filamin C Truncating Variants.

BACKGROUND: Filamin C truncating variants (FLNCtv) cause a form of arrhythmogenic cardiomyopathy: the mode of presentation, natural history, and risk stratification of FLNCtv remain incompletely explored. We aimed to develop a risk profile for refractory heart failure and life-threatening arrhythmias in a multicenter cohort of FLNCtv carriers. METHODS: FLNCtv carriers were identified from 10 tertiary care centers for genetic cardiomyopathies. Clinical and outcome data were compiled. Composite outcomes were all-cause mortality/heart transplantation/left ventricle assist device (D/HT/LVAD), nonarrhythmic death/HT/LVAD, and sudden cardiac death/major ventricular arrhythmias. Previously established cohorts of 46 patients with LMNA and 60 with DSP-related arrhythmogenic cardiomyopathies were used for prognostic comparison. RESULTS: Eighty-five patients carrying FLNCtv were included (42±15 years, 53% men, 45% probands). Phenotypes were heterogeneous at presentation: 49% dilated cardiomyopathy, 25% arrhythmogenic left dominant cardiomyopathy, 3% arrhythmogenic right ventricular cardiomyopathy. Left ventricular ejection fraction was <50% in 64% of carriers and 34% had right ventricular fractional area changes (RVFAC=(right ventricular end-diastolic area - right ventricular end-systolic area)/right ventricular end-diastolic area) <35%. During follow-up (median time 61 months), 19 (22%) carriers experienced D/HT/LVAD, 13 (15%) experienced nonarrhythmic death/HT/LVAD, and 23 (27%) experienced sudden cardiac death/major ventricular arrhythmias. The sudden cardiac death/major ventricular arrhythmias incidence of FLNCtv carriers did not significantly differ from LMNA carriers and DSP carriers. In FLNCtv carriers, left ventricular ejection fraction was associated with the risk of D/HT/LVAD and nonarrhythmic death/HT/LVAD. CONCLUSIONS: Among patients referred to tertiary referral centers, FLNCtv arrhythmogenic cardiomyopathy is phenotypically heterogeneous and characterized by a high risk of life-threatening arrhythmias, which does not seem to be associated with the severity of left ventricular dysfunction.

Rejection in heart transplantation for cardiac sarcoidosis mimicking idiopathic giant cell myocarditis: long-term follow-up.

: Heart transplantation is a life-saving therapy for some patients admitted for acute myocarditis. However, controversial exists about the major risk of rejection following heart transplantation in specific types of myocarditis. Because of relatively few data on the post heart transplant outcomes, we report the long-term follow-up of a 39-year-old patient with a previous history of ulcerative colitis, which rapidly worsened heart failure until an emergency heart transplant in 2004.The clinical course was complicated by many episodes of rejection; lastly, after the development of severe cardiac allograft vasculopathy, re-heart transplantation was needed. The main findings of this case are: 1) inflammatory aetiology should always be suspected in patients with concomitant autoimmune disease that developing rapidly progressing heart failure; 2) patients with inflammatory myocardial disease undergoing heart transplantation should also undergo strict immunological surveillance; 3) the option of performing the re-heart transplant in a patient with a so complex management in the first one could be uncertain, but in this case the young age and lack of noncardiac comorbidities were effective to favour the survivor after two immunologically so challenging heart transplantation.

Acromegalic Cardiomyopathy With Malignant Arrhythmogenic Pattern Successfully Treated With Mechanical Circulatory Support and Heart Transplantation.

Cardiovascular involvement is common in acromegaly and can lead to development of acromegalic cardiomyopathy, characterized by concentric biventricular hypertrophy with a progressive impairment of diastolic and systolic function. The onset of heart failure and arrhythmias are related to poor prognosis. We report on a case of a 48-year-old man with acromegalic cardiomyopathy caused by pituitary adenoma. Despite the successful trans-sphenoidal resection of the tumour, the patient was rehospitalized for ventricular arrhythmic storms that led to cardiogenic shock, which required mechanical hemodynamic support with intra-aortic balloon pump, venoarterial extracorporeal membrane oxygenation, and urgent heart transplantation.

Clinical characteristics, management, and prognosis of octogenarians with acute heart failure admitted to cardiology wards: results from the Italian Survey on Acute Heart Failure.

BACKGROUND: Heart failure is the leading cause of hospitalization among the elderly. This study compares clinical characteristics, management, and prognosis of octogenarians (OLD) with younger (YOUNG) patients in the Italian Survey on Acute Heart Failure (AHF). METHODS: A nationwide, prospective, observational study on AHF was done. Two hundred six Italian departments with intensive cardiac care units enrolled 2,807 patients in 3 months. RESULTS: Octogenarians (mean age 84 +/- 4 years) represented 28% of enrollees. Females were 50% in the OLD group versus 36% in the YOUNG group (P < .0001). Risk factors such as obesity, diabetes, and smoking were more frequent in the YOUNG group. Comorbidities such as anemia and renal dysfunction were more common in the OLD group (64% vs 53%, P < .0001, and 56% vs 43%, P < .0001). More octogenarians were admitted with cardiogenic shock and pulmonary edema, whereas younger patients presented more frequently in New York Heart Association class III to IV (P = .002). Left ventricular ejection fraction was measured in 90% of octogenarians versus 93% of the younger ones and was preserved in 41% of the OLD group versus 31% of the YOUNG group (P < .0001). Coronary angiography was performed in 20% of the YOUNG group and 10% of the OLD group. In-hospital mortality was twice as high in the OLD group (11.8% vs 5.6%, P < .001). In multivariable analysis, the strongest predictors of this event were use of inotropic agents, advanced age (> or =80 years), and elevated troponin at admission. CONCLUSIONS: Octogenarians represent more than one fourth of the admissions for AHF and have a more severe clinical presentation. Their management is less aggressive, and treatments recommended by guidelines are underused. In-hospital mortality is high in the OLD group independently of left ventricular ejection fraction.

Amyloidosis of epicardial and intramural coronary arteries as an unusual cause of myocardial infarction and refractory angina pectoris.

The present case report refers to a 65-year-old male patient with subocclusion of the right coronary artery who had an inferior myocardial infarction that was treated with coronary angioplasty. The patient subsequently developed intractable angina pectoris in the absence of critical coronary stenosis at serial coronary angiography. Doppler wire velocity demonstrated an impaired coronary flow reserve. The patient died of cardiogenic shock. Postmortem examination revealed amyloid involvement of the media of the epicardial coronary arteries and severe amyloid deposition in the media and adventitia with obstruction of the lumen of the intramyocardial coronary arteries. Widespread ischemic areas were present in the myocardium with only slight amyloid deposition. In this patient myocardial infarction and unstable angina were a rare initial manifestation of primary amyloidosis.