Importance of Echocardiography and Clinical "Red Flags" in Guiding Genetic Screening for Fabry Disease.

Introduction: Aim of this study was to evaluate, in a metropolitan area not already explored, the prevalence of Anderson-Fabry disease, by genetic screening, in patients with echocardiographic evidence of left ventricular hypertrophy (LVH) of unknown origin and "clinical red flags". Methods: From August 2016 to October 2017, all consecutive patients referring to our echo-lab for daily hospital practices with echocardiographic evidence of LVH of unknown origin in association with history of at least one of the classical signs and symptoms related to Fabry disease (FD) (neuropathic pain, anhidrosis/hypohidrosis, angiokeratomas, gastrointestinal problems, chronic kidney disease, or cerebrovascular complications) were considered eligible for the FD genetic screening program. Through dried blood spot testing, α-Galactosidase A (α-Gal A) activity and analysis of the GLA gene were performed. Results: Among 3,360 patients who underwent transthoracic echocardiography in our echo-lab during the study period, 30 patients (0.89%; 19 men, mean age 58 ± 18.2 years) were selected. FD was diagnosed in 3 (10%) unrelated patients. Three different GLA gene mutations were detected, one of them [mutation c.388A > G (p.Lys130Glu) in exon 3] never described before. Moreover, probands' familiar genetic screening allowed the identification of 5 other subjects affected by FD. Conclusion: In a metropolitan area not previously investigated, among patients with LVH of unknown origin associated with other "red flags," undergoing genetic screening, the prevalence of FD was very high (10%). Our results highlight the importance of an echocardiographic- and clinical-oriented genetic screening for FD in patients with uncommon cause of LVH.

Multiparametric Implantable Cardioverter-Defibrillator Algorithm for Heart Failure Risk Stratification and Management: An Analysis in Clinical Practice.

BACKGROUND: The HeartLogic algorithm combines multiple implantable cardioverter-defibrillator sensors to identify patients at risk of heart failure (HF) events. We sought to evaluate the risk stratification ability of this algorithm in clinical practice. We also analyzed the alert management strategies adopted in the study group and their association with the occurrence of HF events. METHODS: The HeartLogic feature was activated in 366 implantable cardioverter-defibrillator and cardiac resynchronization therapy implantable cardioverter-defibrillator patients at 22 centers. The median follow-up was 11 months [25th-75th percentile: 6-16]. The HeartLogic algorithm calculates a daily HF index and identifies periods IN alert state on the basis of a configurable threshold. RESULTS: The HeartLogic index crossed the threshold value 273 times (0.76 alerts/patient-year) in 150 patients. The time IN alert state was 11% of the total observation period. Patients experienced 36 HF hospitalizations, and 8 patients died of HF during the observation period. Thirty-five events were associated with the IN alert state (0.92 events/patient-year versus 0.03 events/patient-year in the OUT of alert state). The hazard ratio in the IN/OUT of alert state comparison was (hazard ratio, 24.53 [95% CI, 8.55-70.38], P<0.001), after adjustment for baseline clinical confounders. Alerts followed by clinical actions were associated with less HF events (hazard ratio, 0.37 [95% CI, 0.14-0.99], P=0.047). No differences in event rates were observed between in-office and remote alert management. CONCLUSIONS: This multiparametric algorithm identifies patients during periods of significantly increased risk of HF events. The rate of HF events seemed lower when clinical actions were undertaken in response to alerts. Extra in-office visits did not seem to be required to effectively manage HeartLogic alerts. Registration: URL: https://www.clinicaltrials.gov; Unique identifier: NCT02275637.

Ventricular Septal Defect Complicating Inferior Acute Myocardial Infarction: A Case of Percutaneous Closure.

Ventricular septal defect (VSD) is one of the most serious mechanical complications of acute myocardial infarction (AMI). Despite the incidence of post-AMI VSD in reperfusion era has reduced from 1%-2% to 0.17%-0.31%, it is a still life-threatening condition with poor prognosis. Surgical VSD closure is considered the best treatment approach since conservative management carries an extremely high mortality rate. Over the last decade, percutaneous transcatheter closure has emerged as an alternative therapeutic strategy for a patient with post-AMI VSD, with outcomes similar to cardiac surgery (30-day mortality 14%-66%). We present a case of inferior AMI complicated by posterobasal VSD and cardiogenic shock successfully treated with percutaneous closure. The role of echocardiography in diagnosis, management, and percutaneous procedure guiding has been emphasized.

Subsequent Safe Pregnancy with Cesarean Delivery in a Patient with a History of Peripartum Takotsubo Syndrome Complicated by Cardiogenic Shock.

Takotsubo syndrome (TTS) is an acute and reversible heart failure syndrome, usually occurring in females but rarely in the peripartum period. In women with a history of peripartum TTS, it is unclear how to manage subsequent pregnancies. A 39-year-old female with a history of peripartum TTS complicated by cardiogenic shock became pregnant again. She underwent close cardiological follow-up for monitoring left ventricular systolic function and hemodynamic conditions. Epidural anesthesia was preferred to avoid catecholamine surge during cesarean delivery. After a few days of hospitalization, the patient and the newborn were discharged in good health. In our patient with a history of complicated peripartum TTS, close cardiological follow-up, appropriate management therapy, and anesthesia modality allow us to guide safely a new pregnancy.