Subaortic and midventricular obstructive hypertrophic cardiomyopathy with extreme segmental hypertrophy

BACKGROUND: Subaortic and midventricular hypertrophic cardiomyopathy in a patient with extreme segmental hypertrophy exceeding the usual maximum wall thickness reported in the literature is a rare phenomenon. CASE PRESENTATION: A 19-year-old man with recently diagnosed hypertrophic cardiomyopathy (HCM) was referred for sudden death risk assessment. The patient had mild exertional dyspnea (New York Heart Association functional class II), but without syncope or chest pain. There was no family history of HCM or sudden death. A two dimensional echocardiogram revealed an asymmetric type of LV hypertrophy; anterior ventricular septum = 49 mm; posterior ventricular septum = 20 mm; anterolateral free wall = 12 mm; and posterior free wall = 6 mm. The patient had 2 types of obstruction; a LV outflow obstruction due to systolic anterior motion of both mitral leaflets (Doppler-estimated 38 mm Hg gradient at rest); and a midventricular obstruction (Doppler-estimated 43 mm Hg gradient), but without apical aneurysm or dyskinesia. The patient had a normal blood pressure response on exercise test and no episodes of non-sustained ventricular tachycardia in 24-h ECG recording. Cardiac MRI showed a gross late enhancement at the hypertrophied septum. Based on the extreme degree of LV hypertrophy and the myocardial hyperenhancement, an implantation of a cardioverter-defibrillator was recommended prophylactically for primary prevention of sudden death. CONCLUSION: Midventricular HCM is an infrequent phenotype, but may be associated with an apical aneurysm and progression to systolic dysfunction (end-stage HCM)

Identification of high risk patients with hypertrophic cardiomyopathy in a northern Greek population

This is an Open Access article distributed under the terms of the Creative Commons Attribution Licens

Risk factors for sudden cardiac death in hypertrophic cardiomyopathy

Aim of this study was the evaluation of six non invasive clinical indices as risk factors for sudden death (SD)in hypertrophic cardiomyopathy (HCM). Previous syncope, family history of SD, non sustained ventricular tachycardia, abnormalblood pressure response during exercise, excessive hypertrophy ≥3 cm and left ventricular outflow tract obstructionwith a peak gradient ≥30 mmHg were evaluated in a cohort of 166 patients(112 males, 51.8 ± 15.6 years), followed up for amedian of 32.4 months (range 1 to 209 months). During follow up 13 patients reached study’s endpoints: SD, cardiac arrest,documented sustained ventricular tachycardia and/or Implantable Cardioverter Defibrillator (ICD)-discharge. Patients havingexperienced syncope or presenting with a Maximum Wall Thickness ≥3cm in echocardiography were more sensitive to SDemergence since they had a 13.07 (95%CI: 4.00-46.95, p < 0.0001) and a 10.07 (95%CI: 2.92-34.79, p = 0.003) greater relativerisk respectively. In our cohort of patients only two of the six ‘recognised’ potential risk factors for SD were found sensitive,a result causing scepticism about the validity of criteria used for ICD implantation in HCM patients for SD prevention

Hypertrophic cardiomyopathy with midventricular obstruction and apical aneurysm formation in a single family: case report

<p>Abstract</p> <p>Background</p> <p>Hypertrophic cardiomyopathy (HCM) is an extremely heterogeneous disease. An under recognized and very often missed subgroup within this broad spectrum concerns patients with left ventricular (LV) apical aneurysms in the absence of coronary artery disease.</p> <p>Case presentation</p> <p>We describe a case of HCM with midventricular obstruction and apical aneurysm formation in 3 patients coming from a single family. This HCM pattern was detected by 2D-echocardiography and confirmed by cardiac magnetic resonance imaging. A cardioverter defibrillator was implanted in one of the patients because of non-sustained ventricular tachycardia detected in 24-h Holter monitoring and an abrupt drop in systolic blood pressure during maximal exercise test. The defibrillator activated 8 months after implantation by suppression of a ventricular tachycardia providing anti-tachycardia pacing. The patient died due to refractory heart failure 2 years after initial evaluation. The rest of the patients are stable after a 2.5-y follow-up period.</p> <p>Conclusion</p> <p>The detection of apical aneurysm by echocardiography in HCM patients may be complicated. Ventricular tachycardia arising from the scarred aneurysm wall may often occur predisposing to sudden death.</p

Elective laparoscopic splenectomy for giant hemangioma: a case report

Although unusual, hemangioma is the most common primary splenic neoplasm. Splenectomy is indicated when the tumor is large, with increased risk of hemorrhage. The laparoscopic approach is preferred for most elective splenectomies. Although technically feasible, laparoscopic splenectomy can be a challenge in the patient with splenomegaly. We present herein a case of an 18-year-old male asymptomatic patient who underwent laparoscopic splenectomy for the incidental finding of splenomegaly caused by a large splenic hemangioma. Laparoscopic splenectomy appears to be a safe and effective procedure, in appropriately experienced hands, for patients with splenomegaly, given the spleen's fragile anatomy and its relationship to other abdominal viscera

Kaposi's sarcoma of the hand mimicking squamous cell carcinoma in a woman with no evidence of HIV infection: a case report

<p>Abstract</p> <p>Introduction</p> <p>Kaposi's sarcoma is a vascular neoplasm mainly affecting the skin of the lower extremities. Although it is the most common neoplasm affecting patients with AIDS, sporadic cases in HIV-negative people have been reported. It is a lesion mainly affecting men and its clinical presentation presents a challenge, as it can resemble other benign or malignant skin lesions.</p> <p>Case presentation</p> <p>We report a rare case of Kaposi's sarcoma presenting in a 68-year-old Mediterranean woman with no evidence of HIV infection. The patient had a 6-month history of a slowly progressing pigmented lesion on the dorsum of her left hand. The lesion clinically resembled a squamous cell carcinoma. The patient was treated with a wide excision of the lesion and primary reconstruction with a full thickness skin graft. Histopathological and immunohistochemical analysis of the excised lesion revealed the presence of Kaposi's sarcoma. Serologic investigation for HIV was negative but polymerase chain reaction for human herpes virus type 8 infection was positive. Thorough clinical and imaging investigation of the abdomen and chest were both negative for loci of disease.</p> <p>Conclusion</p> <p>Kaposi's sarcoma, although rare in its sporadic form, should be considered in the differential diagnosis of indeterminate skin lesions, especially those affecting the extremities.</p

Mechanical aberrations in hypetrophic cardiomyopathy: emerging concepts.

Hypertrophic cardiomyopathy is the most common monogenic disorder in cardiology. Despite important advances in understanding disease pathogenesis, it is not clear how flaws in individual sarcomere components are responsible for the observed phenotype. The aim of this article is to provide a brief interpretative analysis of some currently proposed pathophysiological mechanisms of hypertrophic cardiomyopathy, with a special emphasis on alterations in the cardiac mechanical properties

The patient pathway in ATTR-CM in Greece and how to improve it: A multidisciplinary perspective

Transthyretin amyloid cardiomyopathy (ATTR-CM) is an underdiagnosed disease associated with high mortality rates and the patient journey is characterized by increased complexities. Accurate and timely diagnosis and prompt initiation of disease-modifying treatment constitute the contemporary unmet need in ATTR-CM. ATTR-CM diagnosis is characterized by considerable delays and high rates of misdiagnosis. The majority of patients present themselves to primary care physicians, internists, and cardiologists, and many have undergone repeated medical evaluations before an accurate diagnosis has been made. The disease is diagnosed mainly after the development of heart failure symptoms, reflecting a long course of missed opportunities before diagnosis and disease-modifying treatment initiation. Early referral to experienced centers ensures prompt diagnosis and therapy. Early diagnosis, better care coordination, acceleration of digital transformation and reference networks, encouragement of patient engagement, and implementation of rare disease registries are the key pillars to improve the ATTR-CM patient pathway and achieve important benefits in ATTR-CM outcomes