Clinical and pathologic findings of aortic dissection at autopsy: Review of 336 cases over nearly 6 decades.

BACKGROUND: We aimed to characterize the clinical and pathologic findings of aortic dissection (AD) over a nearly 60-year period. METHODS: The Jesse E. Edwards Registry of Cardiovascular Disease database was queried for cardiac specimens from autopsies with AD as a diagnosis and compared 2 cohorts: early (1956-1992) and current (1993-2015). RESULTS: From 1956 to 2015, 338 cases (166 early, 170 current) with AD were included (mean age: 60; 62% male). The AD was 86% type A and 14% type B. Sixty-two percent of cases were under medical care at time of death (61% early, 62% current, P = not significant). Of those under medical care, 63% were not diagnosed prior to death (64% early, 62% current, P = not significant). Risks for dissection did not differ between time intervals and include left ventricular hypertrophy, suggestive of hypertension (84%), prior cardiovascular surgery (38%), bicuspid valve (14%), and connective tissue disease (9%). An intimal tear was identified in the ascending aorta in the majority (68%), followed by descending (14%), root (9.5%), and arch (7%). Aortic rupture occurred in 58%, most frequently in the ascending aorta (41%). CONCLUSIONS: In a large cardiovascular registry, >60% of cases of AD were not detected clinically and first identified at autopsy. Although diagnostic techniques have significantly improved over the time interval, the percentage of AD discovered at autopsy did not differ from the early to the current era. The most prevalent risk factors for dissection including hypertension and prior cardiovascular surgery remain similar in both time periods. AD death is related to rupture of the aorta in the majority of cases.

Autosomal-dominant biventricular arrhythmogenic cardiomyopathy in a large family with a novel in-frame DSP nonsense mutation.

A novel autosomal-dominant in-frame deletion resulting in a nonsense mutation in the desmoplakin (DSP) gene was identified in association with biventricular arrhythmogenic cardiomyopathy across three generations of a large Caucasian family. Mutations that disrupt the function and structure of desmosomal proteins, including desmoplakin, have been extensively linked to familial arrhythmogenic right ventricular cardiomyopathy (ARVC). Analysis of data from 51 individuals demonstrated the previously undescribed variant p.Cys81Stop (c.243_251delCTTGATGCG) in DSP segregates with a pathogenic phenotype exhibiting variable penetrance and expressivity. The mutation's pathogenicity was first established due to two sudden cardiac deaths (SCDs), each with a biventricular cardiomyopathy identified on autopsy. Of the individuals who underwent genetic screening, 27 of 51 were heterozygous for the DSP mutation (29 total with two obligate carriers). Six of these were subsequently diagnosed with arrhythmogenic cardiomyopathy. An additional nine family members have a conduction disorder and/or myocardial structural changes characteristic of an evolving condition. Previous reports from both human patients and mouse studies proposed DSP mutations with a premature stop codon impart mild to no clinical symptoms. Loss of expression from the abnormal allele via the nonsense-mediated mRNA decay pathway has been implicated to explain these findings. We identified an autosomal-dominant DSP nonsense mutation in a large family that led to SCD and phenotypic expression of arrhythmogenic cardiomyopathy involving both ventricles. This evidence demonstrates the pathogenic significance of this type of desmosomal mutation and provides insight into potential clinical manifestations.

Patho-Histological Findings of Annular Rupture Related to Left Ventricular Outflow Tract (LVOT) Calcification Following Transcatheter Aortic Valve Replacement (TAVR).

Peri-aortic hematoma has been recently described as a potentially life-threatening complication following transcatheter aortic valve replacement (TAVR). Patient- and procedure-related factors exist that predispose to peri-aortic hematoma formation, which can progress to myocardial rupture at the aortic root-myocardial junction. While conservative therapy with blood pressure control is the expectant management following peri-aortic hematoma formation, myocardial rupture can occur at the site of the aortic annulus. Hence, interventionists and echocardiologists must be prepared for emergent intervention to salvage the patient once the complication is recognized. The present report highlights the patho-histological findings related to left ventricular outflow tract calcification following TAVR.

Comparison of the Frequency of Sudden Cardiovascular Deaths in Young Competitive Athletes Versus Nonathletes: Should We Really Screen Only Athletes?

The issue of sudden death in young athletes and consideration for the most practical and optimal strategy to identify those genetic and/or congenital heart diseases responsible for these tragic events continues to be debated. However, proponents of broad-based and mandatory national preparticipation screening, including with 12-lead electrocardiograms have confined the focus to a relatively small segment of the youthful population who choose to engage in competitive athletic programs at the high school, college, and elite-professional level. Therefore, lost in this discussion of preparticipation screening of athletes is that the larger population of young people not involved in competitive sports (and, therefore, a priori are excluded from systematic screening) who nevertheless may die suddenly of the same cardiovascular diseases as athletes. To substantiate this hypothesis, we accessed the forensic Hennepin County, Minnesota registry in which cardiovascular sudden deaths were 8-fold more common in nonathletes (n = 24) than athletes (n = 3) and threefold more frequent in terms of incidence. The most common diseases responsible for sudden death were hypertrophic cardiomyopathy (n = 6) and arrhythmogenic right ventricular cardiomyopathy (n = 4). These data raise ethical considerations inherent in limiting systematic screening for unsuspected genetic and/or congenital heart disease to competitive athletes.

Right atrial thrombus arising from the junction of the right atrium and the inferior vena cava.

BACKGROUND: Cardiac tumors are a rare cause of recurrent syncope which are detected on echocardiography, computed tomographic scan, and/or magnetic resonance imaging. We present echocardiographic, anatomic, and histopathologic images of a cardiac tumor arising from the junction of the right atrium and the inferior vena cava in a young lady. METHODS: Transthoracic echocardiography, transesophageal echocardiography, postmortem examination (autopsy), and histopathology. RESULTS: Transesophageal echocardiogram showed a 7×3-cm mobile multilobulated right atrial mass arising from the right atrial wall near the inferior vena cava. The patient was admitted to hospital to undergo cardiac surgery; however, unfortunately, she went in to cardiorespiratory arrest on the eve before surgery. Autopsy showed embolized mass obstructing the main pulmonary trunk, and pathology revealed an old organizing thrombus. CONCLUSIONS: Cardiac thrombi can mimic appearances of a myxoma on echocardiogram. Delay in thrombus removal surgery can result in increased mortality as seen in our case.