Insights into malignant mitral valve degenerative disease from a sudden cardiac death cohort highlighting significant measurement differences from normal.

AIMS: Mitral valve prolapse (MVP) is an accepted cause of sudden cardiac death (SCD) in most autopsy series. Diagnosis at autopsy relies upon subjective assessment with no established objective pathological criteria. This study set out to establish objective measurements to help pathologists dealing with SCD. METHODS: We diagnosed 120 (1.5%) cases of MVP in 8108 cases of SCD. We measured the mitral annulus, anterior and posterior leaflets, rough zone and mitral annular disjunction (MAD) in 27 MVP cases and compared them to 54 age- and sex-matched normal mitral valves. RESULTS: Age of death was 39 ± 16 years, with 59 females and 61 males. History of mild MV disease was present in 19 (16%). Eleven (9%) died associated with exertion. Left ventricular hypertrophy was present in nine (15%) females and 10 (16%) males. Both MV leaflets showed thickening and ballooning in all individuals. MVP showed highly significantly increased annular circumference, elongation and thickening of both leaflets as well as increased MAD (all P < 0.001). Left ventricular fibrosis was present in 108 (90%), with interstitial fibrosis in the posterolateral wall and papillary muscle in 88 (81%) and coexisting replacement fibrosis in 40 (37%). CONCLUSION: This is the largest MVP associated with SCD series highlighting a young cohort with equal representation of males and females. There is involvement of both leaflets with significant annular dilatation, elongation and thickening of both leaflets with MAD. Left ventricular fibrosis explains arrhythmia. Our quantitative measurements should serve as a reference for pathologists assessing post-mortem hearts for MVP.

Sudden arrhythmic death and cardiomyopathy are important causes of sudden cardiac death in the UK: results from a national coronial autopsy database.

AIMS: Sudden cardiac death (SCD) is defined as natural unexpected death in witnessed cases occurring < 1 h and in unwitnessed cases as last seen alive < 24 h. SCD due to ischaemic heart disease (IHD) is frequent in older age groups; in younger people genetic cardiac causes, including channelopathies and cardiomyopathies, are more frequent. This study aimed to present the causes of SCD from a large specialist pathology registry. METHODS AND RESULTS: Cases were examined macroscopically and microscopically by two expert cardiac pathologists. The hearts from 7214 SCD cases were examined between 1994 and 2021. Sudden arrhythmic death syndrome (SADS), a morphologically normal heart, which can be underlaid by cardiac channelopathies, is most common (3821, 53%) followed by the cardiomyopathies (1558, 22%), then IHD (670, 9%), valve disease (225, 3%), congenital heart disease (213, 3%) and myocarditis/sarcoidosis (206, 3%). Hypertensive heart disease (185, 3%), aortic disease (129, 2%), vascular disease (97, 1%) and conduction disease (40, 1%) occur in smaller proportions. DISCUSSION: To our knowledge, this is the largest SCD cohort with autopsy findings ever reported from one country. SADS and cardiomyopathies predominate. This study highlights the importance of the autopsy in SCD, which is a significant public health concern in all age groups. Knowing the true incidence in our population will improve risk stratification and develop preventative strategies for family members. There is now a national pilot study integrating molecular autopsy and family screening into the assessment of SCD victims.

Effect of sex, age and body measurements on heart weight, atrial, ventricular, valvular and sub-epicardial fat measurements of the normal heart.

AIMS: Descriptive morphological studies of the normal heart are lacking. Previous autopsy studies have focused mainly on heart weight. We characterize the normal heart by providing normal dimensions of the atria, ventricles, valves and sub-epicardial fat, comparing the findings in terms of sex, age and body measurements. METHODS: From 3602 referrals to our cardiovascular pathology unit, pathological criteria used for the classification of a morphologically normal heart were a weight of below 500 grams in males, and below 400 grams in females. Diseased hearts were excluded on anatomical and histological evaluation. RESULTS: We diagnosed 1062 morphologically normal hearts. Mean age at death was 34±12, with a male predominance (701, 66%). Age was similar in females and males (35±13 vs 34±12). Females had a significantly lower heart weight (285±55 vs 374±64). Sex was an independent predictor of most measurements. The atrial and ventricular cavities were significantly larger in males. All ventricular measurements of muscle thickness were larger in males. All valvular circumferences were larger in males. In contrast, sub-epicardial fat was significantly thicker in females in 6 of 7 regions. This is the first study to provide a calculator to give expected values according to sex, age, height and weight. CONCLUSIONS: Major differences between the sexes exist in the morphologically normal heart. These variations should be considered when assessing cardiac structure in imaging for risk stratification and diagnosis in the cardiomyopathies, as well as in treatment outcomes.

Fatal Case of Hypertrophic Cardiomyopathy in a Donor Heart: A Case Report.

Hypertrophic cardiomyopathy is a genetically determined heart muscle disease, and patients are at an increased risk for sudden cardiac death. We report the case of a 39-year-old White man who was found dead at home unexpectedly. He had a cardiac transplant for congenital heart disease at the age of 12 and his condition was maintained with immunosuppression ever since with good cardiac function and right bundle branch block. At autopsy, the heart was enlarged with a weight of 591 g and had fibrous adhesions of the pericardium with endothelialized sutures in the atria and great vessels in keeping with heart transplant. There was focal septal hypertrophy noted on short axis cut. There was diffuse thickening of the coronary arteries, but no significant stenosis was noted. On microscopic examination of the heart, sections of right and left ventricle showed myocyte hypertrophy with extensive widespread myocyte disarray and replacement fibrosis. The histologic appearance was that of hypertrophic cardiomyopathy, which was responsible for his sudden unexpected death. This postmortem diagnosis of hypertrophic cardiomyopathy in a transplanted heart has major implications for the donor family because of the inherited nature of the condition. Follow-up with the donor family is essential in this unique case. This case highlights the importance of autopsy in transplant death cases. Hypertrophic cardiomyopathy in the donor heart most likely did not manifest phenotypically at the time of transplant in this case because the majority present in adolescence and early adulthood, rarely in childhood. This is first report of such a case.