Sami Firoozi

Prospective evaluation of relatives for familial arrhythmogenic right ventricular cardiomyopathy/dysplasia reveals a need to broaden diagnostic criteria.

OBJECTIVES We sought to ascertain the prevalence and mode of expression of familial disease in a consecutive series of patients with arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D). BACKGROUND Autosomal-dominant inheritance is recognized in ARVC. The prevalence and mode of expression of familial disease in consecutive, unselected families is uncertain. METHODS First- and second-degree relatives of 67 ARVC index patients underwent cardiac evaluation with history and examination, 12-lead and signal-averaged electrocardiogram (ECG), two-dimensional and Doppler echocardiography, metabolic exercise testing and Holter monitoring. Diagnoses were made in accordance with published criteria. RESULTS Of 298 relatives, 29 (10%; mean age 37.4 +/- 16.4 years) had ARVC. These were from 19 of the 67 families, representing familial involvement in 28%. Of these affected relatives, 72% were asymptomatic, 17% had ventricular tachycardia (sustained VT 10%, nonsustained VT 7%) and 21% had left ventricular involvement. A further 32 relatives (11%; 37.7 +/- 12.4 years) exhibited nondiagnostic ECG, echocardiographic or Holter abnormalities. Fifteen of these relatives were from families with only the proband affected, and inclusion of this subset of relatives would have resulted in familial ARVC in 48% of index cases. Four additional relatives (1% to 3%) fulfilled diagnostic criteria for dilated cardiomyopathy without any features of right ventricular disease. CONCLUSIONS By using current diagnostic criteria, familial disease was present in 28% of index patients. A further 11% of their relatives had minor cardiac abnormalities, which, in the context of a disease whose mode of inheritance is autosomal dominant, are likely to represent early or mild disease expression. We advocate that the current ARVC diagnostic criteria are modified to reflect the broader spectrum of disease that is observed in family members.

Physiologic limits of left ventricular hypertrophy in elite junior athletes : Relevance to differential diagnosis of athlete's heart and hypertrophic cardiomyopathy

OBJECTIVES The present study was undertaken to define physiologic limits of left ventricular hypertrophy in elite adolescent athletes. BACKGROUND Systematic sports training may cause increased left ventricular wall thickness (LVWT), creating uncertainty regarding the differential diagnosis of athletes heart from hypertrophic cardiomyopathy (HCM). This distinction is crucial because HCM is responsible for about one-third of all sudden deaths in young athletes. Echocardiographic data defining athletes heart are limited largely to adults, with little information specifically in adolescent athletes (14 to 18 years old), for whom the risk of sudden death from HCM is highest. METHODS Seven hundred and twenty elite adolescent athletes (75% male) aged 15.7 +/- 1.4 years participating in ball, racket, and endurance sports and 250 healthy sedentary controls of similar age, gender, and body surface area underwent echocardiography. RESULTS Compared with controls, athletes had greater absolute LVWT (9.5 +/- 1.7 mm vs. 8.4 +/- 1.4 mm; p < 0.0001). Maximal LVWT exceeded predicted upper limits in 38 athletes (5%); however, no female athlete had a LVWT >11 mm and only three trained male athletes had absolute LVWT >12 mm (0.4%). Each of the 38 athletes with a LVWT exceeding predicted limits also showed enlarged left ventricular cavity dimension (54.4 +/- 2.1 mm; range 52 to 60 mm). CONCLUSIONS Trained adolescent athletes demonstrated greater absolute LVWT compared with nonathletes. Only a small proportion of athletes exhibited a LVWT exceeding upper limits, very rarely >12 mm, and then always with chamber enlargement. Hypertrophic cardiomyopathy should be considered strongly in any trained adolescent male athlete with LVWT >12 mm (females >11 mm) and nondilated left ventricle.

PREVALENCE AND SIGNIFICANCE OF T-WAVE INVERSIONS IN PREDOMINANTLY CAUCASIAN ADOLESCENT ATHLETES

AIMS Athletic activity is associated with electrocardiographic T-wave inversions in some adults, resembling those observed in cardiomyopathy. The prevalence and significance of T-wave inversions in adolescent athletes, the group most vulnerable to exercise-related sudden death from cardiomyopathy, is unknown. METHODS AND RESULTS This study evaluated 1710 adolescent athletes and 400 healthy controls. Subjects with T-wave inversions underwent intensive cardiac investigations to identify a potential cause. There was no significant difference in the overall prevalence of T-wave inversions between athletes and controls (4 vs. 3%; P = 0.46). T-wave inversions in leads V1-V3 were largely confined to athletes and controls aged <16 years. Only 0.1% of athletes aged >or=16 years exhibited T-wave inversions beyond V2. T-wave inversions in the inferior and/or lateral leads and deep T-wave inversions occurred infrequently in athletes (1.5 and 0.8%, respectively) and were associated with a high prevalence of left ventricular hypertrophy or congenital cardiac anomalies. Despite intensive investigations, no athlete was diagnosed with a cardiomyopathy. CONCLUSIONS T-wave inversions in V1-V3 are relatively common in athletes <16 years and probably represent the juvenile electrocardiogram pattern. In adolescent athletes, T-wave inversions beyond V2 if >or=16 years, T-wave inversions in the inferior/lateral leads and deep T-wave inversions in any lead are unusual, warranting further investigations for underlying cardiomyopathy.

Pregnancy related complications in women with hypertrophic cardiomyopathy

Objectives: To determine whether pregnancy is well tolerated in hypertrophic cardiomyopathy. Setting: Referral clinic. Design: The study cohort comprised 127 consecutively referred women with hypertrophic cardiomyopathy. Forty (31.5%) underwent clinical evaluation before pregnancy. The remaining 87 (68.5%) were referred after their first pregnancy. All underwent history, examination, electrocardiography, and echocardiography. Pregnancy related symptoms and complications were determined by questionnaire and review of medical and obstetric records where available. Results: There were 271 pregnancies in total. Thirty six (28.3%) women reported cardiac symptoms in pregnancy. Over 90% of these women had been symptomatic before pregnancy. Symptoms deteriorated during pregnancy in fewer than 10%. Of the 36 women with symptoms during pregnancy, 30 had further pregnancies. Symptoms reoccurred in 18 (60%); symptomatic deterioration was not reported. Heart failure occurred postnatally in two women (1.6%). No complications were reported in 19 (15%) women who underwent general anaesthesia and in 22 (17.4%) women who received epidural anaesthesia, three of whom had a significant left ventricular outflow tract gradient at diagnosis after pregnancy. Three unexplained intrauterine deaths occurred in women taking cardiac medication throughout pregnancy. No echocardiographic or clinical feature was a useful indicator of pregnancy related complications. Conclusions: Most women with hypertrophic cardiomyopathy tolerate pregnancy well. However, rare complications can occur and therefore planned delivery and fetal monitoring are still required for some patients.

Physiological upper limits of ventricular cavity size in highly trained adolescent athletes

Objectives: To define physiological upper limits of left ventricular (LV) cavity size in trained adolescent athletes. Design: Cross sectional echocardiographic study. Setting: British national sports training grounds and Olympic Medical Institute. Subjects: 900 elite adolescent athletes (77% boys) aged 15.7 (1.2) years participating in ball, racket, and endurance sports and 250 healthy controls matched for age, sex, and size. Main outcome measures: LV end diastolic cavity size. Results: Compared with controls, athletes had a larger LV cavity (50.8 (3.7) v 47.9 (3.5) mm), a difference of 6%. The LV cavity was > 54 mm in 18% athletes, whereas none of the controls had an LV cavity > 54 mm. The LV cavity exceeded predicted sizes in 117 (13%) athletes. Among the athletes with LV dilatation, 78% were boys, LV size ranged from 52–60 mm, and left atrial diameter and LV wall thickness were enlarged. Systolic and diastolic function were normal. None of the athletes in the study had an LV cavity size > 60 mm. LV cavity size correlated with age, sex, heart rate, and body surface area. Conclusion: Highly trained junior athletes usually have only modest increases in LV cavity size. A proportion of trained adolescent athletes have LV cavity size exceeding predicted values but, in absolute terms, LV cavity rarely exceeds 60 mm as in patients with dilated cardiomyopathy. In highly trained adolescent athletes with an LV cavity size > 60 mm and any impairment of systolic or diastolic function, the diagnosis of dilated cardiomyopathy should be considered.

Risk of competitive sport in young athletes with heart disease

The majority of sudden deaths in young athletes occur in the context of underlying inherited or genetic cardiac disorders. The evaluation of every athlete regarding underlying cardiac disease is impractical and therefore needs to be targeted at those who are at a higher risk. A practical approach would be to channel efforts towards athletes with cardiac symptoms, those with a family history of inherited cardiac disease, and those with a family history of premature sudden death. There are potential pitfalls in the evaluation of young athletes using non-invasive tests when making the distinction between physiological adaptations to exercise and cardiac pathology. Physicians evaluating young athletes need to be aware of the spectrum of physiological adaptations and to be familiar with conditions responsible for sudden death in this population.

Value of Exercise Testing in Assessing Clinical State and Prognosis in Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is a genetic disease of the sarcomeric contractile proteins. A majority of patients with HCM are limited in terms of functional capacity, and a minority of these patients die suddenly. The main aims of management are symptom alleviation and prevention of sudden cardiac death. In patients with HCM, cardiopulmonary exercise testing provides a much more accurate index of functional capacity than New York Heart Association classification status, and it is useful in assessing symptoms after various therapeutic strategies have been implemented. Exercise testing is also valuable in identifying patients with HCM who are at high risk of sudden cardiac death and is an integral part of the algorithm in risk stratification and delivery of prophylactic therapy. Also, cardiopulmonary exercise testing plays an important role in differentiating HCM from other conditions associated with left ventricular hypertrophy, such as physiologic athlete’s heart. Therefore, during the last few years, cardiopulmonary exercise testing has provided insights into the diagnosis, determinants, and mechanisms of exercise limitation in HCM. This understanding aids physicians in targeting therapy and developing new treatment modalities.

Transcatheter Aortic Valve Replacement Using the Repositionable LOTUS Valve: United Kingdom Experience

OBJECTIVES This study sought to present the U.K. experience to date with the second-generation LOTUS bioprosthesis (Boston Scientific, Natick, Massachusetts). BACKGROUND First-generation transcatheter aortic valves have limitations. Second-generation repositionable valves may improve on some of those limitations. METHODS Prospectively collected data relating to procedural and in-hospital outcome was analyzed from 10 implantation centers in the United Kingdom. RESULTS Implants in 228 patients age 81.4 ± 7.6 years were studied; 53.5% were male. Mean logistic EuroScore was 17.5 ± 12.4. One hundred eighty-seven (82.0%) were undertaken for aortic stenosis, 7 (3.1%) for aortic regurgitation, and 34 (14.9%) for mixed aortic valve disease. A total of 67.1% of cases were done under local anesthetic and/or sedation with transfemoral access in 94.7% and transaortic in 5.3%. Three device sizes were used: 23 mm (n = 66, 28.9%), 25 mm (n = 39, 17.1%), and 27 mm (n = 123, 53.9%). The valve was successfully deployed in 99.1% of procedures. After implantation, the mean aortic gradient was 11.4 ± 5.4 mm Hg and aortic valve area 1.6 ± 0.5 cm(2). In-hospital mortality was 1.8% (n = 4). Complications included cardiac tamponade (1.8%), conversion to sternotomy (1.3%), stroke (3.9%), vascular access-related (7.0%), and acute kidney injury (7.9%). The incidence of moderate/severe aortic regurgitation was 0.8% (n = 2). A total of 31.8% of patients required new permanent pacemaker implantation. CONCLUSIONS This analysis represents the largest published series on use of the LOTUS valve. Outcomes using this valve are excellent. In-hospital mortality is very low. Complication rates are low, and the LOTUS valve improves on first-generation valves, particularly with regard to residual aortic regurgitation.

Impact of European Society of Cardiology and European Association for Cardiothoracic Surgery Guidelines on Myocardial Revascularization on the activity of percutaneous coronary intervention and coronary artery bypass graft surgery for stable coronary artery disease.

OBJECTIVE Joint guidelines on myocardial revascularization were published by the European Society of Cardiology and European Association for Cardiothoracic Surgery: Patients with left main stem, proximal left anterior descending, or 3-vessel disease should be discussed with a surgeon before revascularization, and ad hoc percutaneous coronary intervention has no elective indication in these categories. We assess the impact of the guidelines on referral patterns to a cardiac surgery service at a large-volume cardiac center in the United Kingdom. METHODS Joint guidelines were published in August 2010. All patients with severe disease undergoing percutaneous coronary intervention at one institution were identified 6 months before (January to June 2010) and 6 months after (January to June 2011) their introduction. Decision-making and surgical referral were determined from minutes of multidisciplinary meeting. RESULTS A total of 197 patients underwent elective percutaneous coronary intervention pre-guidelines, of whom 62 had severe disease. Only 6 patients (9%) were discussed at a multidisciplinary meeting before intervention. After introduction of the guidelines, elective percutaneous coronary interventions were performed in 164 patients, of whom 42 had surgical disease. Only 8 patients (17%) were discussed at a multidisciplinary meeting before intervention (P = not significant). Follow-up was a median of 480 (380-514) days for the pre-guideline group and 104 (31-183) days for the post-guideline group. Ad hoc percutaneous coronary intervention in surgical disease occurred in 8 patients (14%) pre-guidelines and was unchanged for 9 patients (26%) post-guidelines (P = not significant). CONCLUSIONS Despite recommendation by both cardiology and cardiac surgical bodies and widespread publicity, a significant number of patients in this single-center study are not receiving optimal treatment recommended by these guidelines.

Arrhythmias and Sudden Death in Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is defined as left and/or right ventricular hypertrophy in the absence of a cardiac or systemic cause [1]. The prevalence of HCM in the general population is estimated to be 0.2% [2]. Hypertrophic cardiomyopathy is an inherited heart muscle disorder caused by mutations within eight different cardiac sarcomeric contractile proteins [3,4]. These include β-myosin heavy chain (30%), cardiac troponin T (15–20%), myosin binding protein C (10–15%), α-tropomyosin (2–5%), essential and regulatory light chains (1%) and actin (<1%) [5].