P2830Clinical and genetic findings in relatives to young sudden cardiac death victims without post-mortem examination (autopsy)

Background Guidelines recommend clinical assessment of relatives to young sudden cardiac death (SCD) victims (<50 years) to protect the surviving relatives by pre-symptomatic interventions, in case the SCD was due to an inherited cardiac disorder. The etiology is an inherited cardiac disease in about 50% of young SCD cases. The work-up of relatives is generally guided by findings in the SCD victim. If post-mortem examinations (autopsies) have not been performed the work-up of relatives is challenged. The diagnostic hit-ratio of screening of relatives under these circumstances is unclear. Purpose To assess the diagnostic yield of inherited cardiac diseases of cardiac work-up in relatives of SCD victims, where no autopsy had been performed. Methods This retrospective study consecutively included families referred to our tertiary referral centre, specialised in hereditary cardiac diseases, during the period 2005 to 2018 due to SCD in the family. No autopsy had been performed in any of the SCD victims. The relatives underwent standard cardiac work-up according to guidelines. Based on the findings in the relatives the families were categorised into: 1) definite diagnosis, 2) borderline diagnosis or 3) undiagnosed. Results We assessed 149 relatives (43±16 age, 48% men) to 84 SCD un-autopsied cases (44±11 age, 79% men). In 11 (13%) families a definite diagnosis was established, in 8 (10%) families a borderline diagnosis was found and the remaining 65 (77%) families remained undiagnosed. The most common diagnosis was premature IHD (36%) followed by cardiomyopathies (27%) and channelopathies (27%). A disease-causing mutation was identified in 3 families out of 15 genetically examined families. Conclusion Systematic cardiac work-up of relatives to not-autopsied SCD victims, revealed a definite hereditary cardiac disease in 13% of the referred families, and a borderline diagnosis in additionally 10% of the families. Despite a reduced diagnostic yield in family members of non-autopsied SCD victims, work-up of relatives is clearly still justified.

P5026Diagnostic yield in victims of sudden cardiac death and their relatives

Background International guidelines recommend screening of relatives in families with sudden cardiac death (SCD) if the cause of death is suspected to be an inheritable cardiac disease. The inheritable cardiac diagnosis may either have been known before the death, established at the autopsy or identified through screening of relatives. Purpose To provide an estimate of the diagnostic yield of inherited cardiac disease in SCD victims. Methods In an observational study, we included all families consecutively referred to our tertiary unit for inheritable cardiac diseases in the period from 2005 to 2018 due to SCD. Families with SCD victims under 1 year of age were excluded. In total, 697 relatives from 305 families were included and all relatives underwent a standard screening protocol, which included clinical and genetic work-up. Premortem medical records and postmortem findings on the SCD victim were ascertained whenever possible. Results A definite inheritable cardiac disease was identified in 113 out of 305 SCD families prior to family screening. The diagnosis was established through autopsy findings (n=89), genetic analysis (n=3) or was established prior to death (n=21). In the remaining 192 families with no or a borderline diagnosis only, screening of the relatives yielded a diagnosis in additional 28 families (15%). On a family-basis, a total of 141 out of 305 families (46%) were diagnosed. Seventy-seven (11%) out of the 697 screened relatives received either a phenotype-positive and/or genotype-positive inheritable diagnosis and 70 (10%) relatives received a borderline diagnosis. The most common diagnoses in the relatives were ARVC (n=17) followed by DCM (n=10) (see figure). Conclusion Almost half of SCD families were diagnosed with an inheritable cardiac disease of which one fifth of the families were diagnosed as a result of family screening. In 11% of the screened relatives a probable inheritable diagnosis was identified.

P2821Diagnostic yield and outcomes of systematic work-up of aborted sudden cardiac death victims and their relatives

Introduction Cardiac arrest can be the first manifestation of most inherited cardiac diseases. This motivates the international guidelines recommending screening of relatives of cardiac arrest survivors (aSCD) if an inherited cardiac disorder might have caused the cardiac arrest. Purpose To assess the presence of inheritable cardiac diseases in cardiac arrest survivors and their relatives. Methods In this retrospective study we consecutively included cardiac arrest survivors (probands) and their relatives referred to our tertiary referral center from 2005 to 2018. All probands and relatives underwent a systematic screening protocol. Data were retrieved from medical files. Only probands with non-ischemic heart disease were included. Results We included 155 probands (41±16 years old, 94 (61%) male) and 284 relatives (36±19 years old, 144 (51%) male). We identified an inheritable cardiac disease in 70 (45%) probands, most frequently cardiomyopathies (41, 26%) followed by channelopathies (27, 17%) (figure). A borderline diagnosis was found in 32 (21%) probands. In the relatives, an inheritable diagnosis was identified in 38 (13%) individuals, most frequently channelopathies (23, 8%), and a borderline diagnosis was identified in 33 (12%) individuals. Conclusion Clinical assessment of aSCD cases on a non-ischemic basis identified an inheritable cardiac disease as the most likely etiology in almost half of the probands and in 13% of the relatives.

In the Fullness of Time

Borderline personality disorder (BPD) is still seen in many settings as a chronic disorder. This book details the ways that it is symptomatically a “good prognosis” diagnosis. This is particularly seen in the high rate of remissions of BPD and its constituent symptoms. The rate of suicide is also good news, as it is half the expected rate from four follow-back studies conducted in the 1980s. Areas with a more guarded prognosis, particularly for those who have not recovered, are poor physical health and poor vocational adjustment. In addition, rates of other deaths are increasing and have surpassed the rate of deaths by suicide. This book covers the following topics: History of the borderline diagnosis, models of the core features of BPD, earlier studies of the longitudinal course of BPD, the McLean Study of Adult Development (MSAD), the symptoms of BPD assessed in MSAD, the long-term course of the symptoms of BPD, symptomatic remissions and recurrences of the borderline diagnosis, prevalence and predictors of physically self-destructive acts over time, additional symptom areas over time, psychosocial functioning over time, recovery from BPD, predictors of time-to-remission and recovery, co-occurring disorders over time, mental health treatment over time, physical health and medical treatment, adult victimization over time, sexual issues over time, defense mechanisms over time, and new directions.

Symptomatic Remissions and Recurrences of the Borderline Diagnosis

Many clinicians are reluctant to treat or actively avoid treating patients with BPD. This is so because of the interpersonal difficulties that tend to arise during such a treatment, and is partly due to the idea that BPD is a chronic disorder. This chapter, however, describes the reason for much of the new optimism about the borderline diagnosis. After 16 years of prospective follow-up, it was found that 99% of borderline patients achieved a two-year remission of their BPD, and 78% achieved an eight-year remission of this disorder. Additionally, recurrences of BPD were relatively infrequent, suggesting that remissions of this disorder were stable in nature. These findings suggest that BPD is a “good prognosis” diagnosis and not the chronic condition that many clinicians still believe.

Defense Mechanisms over Time

At baseline, three defenses were found in multivariate analyses to be significantly associated with a borderline diagnosis. Two of these defenses were immature and one was neurotic: acting out, emotional hypochondriasis (i.e., transformation of feelings of sorrow, rage, and terror into unremitting complaints about the lack of understanding that others display), and undoing. At 16-year follow-up, borderline patients could still be differentiated from Axis II comparison subjects, and improvement was found in many defenses. In addition, four time-varying defense mechanisms were found to predict time-to-recovery. One was mature and three were immature: humor, acting out, emotional hypochondriasis, and projection. The clinical meaning and usefulness of assessing defenses over time, particularly immature defenses, in clinical settings is discussed.

History of the Borderline Diagnosis

The borderline diagnosis was first described by Alfred Stern in 1938. However, “borderline personality disorder” (BPD) did not enter the official nomenclature of American psychiatry until 1980. Between these two time points, psychoanalysts and psychiatrists carefully described aspects of borderline psychopathology, particularly cognitive symptoms. Two of the most careful and influential descriptions of the borderline diagnosis in the 1960s and 1970s were those of Otto Kernberg, who described the broad concept of borderline personality organization (BPO), and John Gunderson, who described the affective, cognitive, impulsive, and interpersonal symptoms of BPD. After 1980, BPD was often described as being a subthreshold variant of various diagnostic spectrums (e.g., mood disorders, impulsive disorders, trauma disorders) that were in vogue at that time. However, BPD is now commonly accepted as a well-validated disorder with a characteristic symptom profile that distinguishes it from other disorders, including other personality disorders.

Problemi di psicoterapia

- After an introduction on the dimensional approach in personality diagnosis and on its use as an attempt at solving some of the problems of categorical diagnoses (such as those of DSM-III and DSM-IV), the main dimensional models of personality are presented, namely: 16 PF Questionnaire by Cattell, Eysenck Personality Inventory (EPI), Five-Factor Model (FFM) by Costa & McCrae (Big Five), Temperament and Character Inventory (TCI) by Cloninger, Schedule for Nondaptive and Adaptive Personality (SNAP) by Clark, Dimensional Assessment of Personality Pathology - Basic Questionnaire (DAPP-BQ) by Livesley, Structural Analysis of Social Behavior (SASB) by Benjamin, the "fundamental polarity (anaclitic and introjective) of personality" by Blatt, Shedler-Westen Assessment Procedure (SWAP). Finally, advantages and disadvantages of dimensional models are discussed, with particular emphasis on borderline disorder.key words: personality, dimensional models, categorical model, borderline, diagnosis