Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations.

PURPOSE: Smooth muscle dysfunction syndrome (SMDS) due to heterozygous ACTA2 arginine 179 alterations is characterized by patent ductus arteriosus, vasculopathy (aneurysm and occlusive lesions), pulmonary arterial hypertension, and other complications in smooth muscle-dependent organs. We sought to define the clinical history of SMDS to develop recommendations for evaluation and management. METHODS: Medical records of 33 patients with SMDS (median age 12 years) were abstracted and analyzed. RESULTS: All patients had congenital mydriasis and related pupillary abnormalities at birth and presented in infancy with a patent ductus arteriosus or aortopulmonary window. Patients had cerebrovascular disease characterized by small vessel disease (hyperintense periventricular white matter lesions; 95%), intracranial artery stenosis (77%), ischemic strokes (27%), and seizures (18%). Twelve (36%) patients had thoracic aortic aneurysm repair or dissection at median age of 14 years and aortic disease was fully penetrant by the age of 25 years. Three (9%) patients had axillary artery aneurysms complicated by thromboembolic episodes. Nine patients died between the ages of 0.5 and 32 years due to aortic, pulmonary, or stroke complications, or unknown causes. CONCLUSION: Based on these data, recommendations are provided for the surveillance and management of SMDS to help prevent early-onset life-threatening complications.

Cardiovascular management in pregnancy: congenital heart disease.

The population of adults with CHD continues to expand,and thus the number of women with CHD who contemplate pregnancy or become pregnant is also growing. Mothers with low-risk defects can be managed by general cardiologist,whereas those with more complex defects should be managed by or with the assistance of ACHD cardiologists. It is important to acknowledge that all patients with CHD may have unique anatomy or physiology, despite their classification as having a simple, moderate, or complex defect. As such, clinicians evaluating these patients should have adequate knowledge and expertise when assessing patient's risk for pregnancy,when performing imaging or hemodynamic studies, and when managing these patients during pregnancy. The American Board of Medical Specialties has recently recognized ACHD as a subspecialty of cardiovascular disease to treat the specialized needs of these patients in adulthood. ACHD experts can provide expertise in the management of specific defects or lesions, imaging techniques, prepregnancy risk assessment,and can manage these patients or comanage them with other medical providers during their pregnancy. Because many of these ACHD patients are lost to follow-up in adulthood, pregnancy represents a time when these patients seek medical care(and for some, represents a time of vulnerability and increased risk). This represents an opportunity to establish or reestablish care with ACHD specialists and to reestablish continuing long-term care for their CHD. Pregnancy also provides an opportunity to create partnerships between primary care physicians,adult cardiologists, and ACHD specialists to provide optimal care for these women throughout their lives.

The natural history of new-onset heart failure with a severely depressed left ventricular ejection fraction: implications for timing of implantable cardioverter-defibrillator implantation.

BACKGROUND: Guidelines recommend that patients with new-onset systolic heart failure (HF) receive a trial of medical therapy before an implantable cardiac defibrillator (ICD). This strategy allows for improvement of left ventricular ejection fraction (LVEF), thereby avoiding an ICD, but exposes patients to risk of potentially preventable sudden cardiac death during the trial of medical therapy. METHODS: We reviewed a consecutive series of patients with HF of <6 months duration with a severely depressed LVEF (<30%) evaluated in a HF clinic (N = 224). The ICD implantation was delayed with plans to reassess LVEF approximately 6 months after optimization of ß-blockers. Mortality was ascertained by the National Death Index. RESULTS: Follow-up echocardiograms were performed in 115 of the 224 subjects. Of these, 50 (43%) had mildly depressed or normal LVEF at follow-up ("LVEF recovery") such that an ICD was no longer indicated. In a conservative sensitivity analysis (using the entire study cohort, whether or not a follow-up echocardiogram was obtained, as the denominator), 22% of subjects had LVEF recovery. Mortality at 6, 12, and 18 months in the entire cohort was 2.3%, 4.5%, and 6.8%, respectively. Of 87 patients who tolerated target doses of ß-blockers, only 1 (1.1%) died during the first 18 months. CONCLUSION: Patients with new-onset systolic HF have both a good chance of LVEF recovery and low 6-month mortality. Achievement of target ß-blocker dose identifies a very low-risk population. These data support delaying ICD implantation for a trial of medical therapy.

Quantitative Assessment of Simulated Regurgitant Flow Using Direct Digital Acquisition of Doppler Color Flow Images.

Analysis of jet momentum and proximal isovelocity surface area (PISA) have been shown to be accurate in quantitating regurgitant flow for axisymmetric free jets. However, eccentric jets directed against chamber walls are often encountered in clinical practice and could confound the assessment of regurgitant flow. Thus, we used direct digital color flow mapping to calculate flow by the momentum method and PISA in a flow model. Steady flow jets were driven through a 2-mm round orifice at flow rates of 3, 6, 9, 12, 15, and 20 mL/sec. Jets were directed centrally and against the lateral wall of a 150 mL chamber. The raw data from a 3.25/2.5 MHz transducer (Vingmed CFM 750) was digitally transferred to a Macintosh IIci computer for analysis of the velocities comprising the jets. By linear regression, PISA was accurate in assessing flow for both free jets and wall jets (r(2) = 0.98) with regression lines approximating unity. The momentum method was highly accurate for free jets (r(2) = 0.98) but systematically underestimated flow for wall jets (r(2) = 0.70, y = 0.21x + 0.88). Thus, analysis of simulated regurgitant flow using digital display of velocities encoded in the color flow jet is accurate for free jets by both the PISA and momentum techniques. In wall jets, the momentum technique underestimates flow because the requirement for jet axisymmetry is not met.