J. Cardiovasc. Dev. Dis., Volume 11, Issue 10 (October 2024) – 4 articles

The discovery of hypertrophic cardiomyopathy (HCM) dates back to 1958, when the pathologist Donald Teare of the St. George’s Hospital in London performed autopsies in eight cases with asymmetric hypertrophy of the ventricular septum and bizarre disorganization (disarray) at histology, first interpreted as hamartoma. Seven had died suddenly. The cardiac specimens were cut along the long axis, similar to the 2D echo. In the same year, at the National Institute of Health U.S.A., Eugene Braunwald, a hemodynamist, and Andrew Glenn Morrow, a cardiac surgeon, clinically faced a patient with an apparently similar morbid entity, with a systolic murmur and subaortic valve gradient. “Discrete” subaortic stenosis was postulated. However, at surgery, Dr. Morrow observed only hypertrophy and performed myectomy to relieve the obstruction. This first Braunwald–Morrow patient underwent a successful cardiac transplant later at the disease end stage. The same Dr. Morrow was found to be affected by the familial HCM and died suddenly in 1992. The term “functional subaortic stenosis” was used in 1959 and “idiopathic hypertrophic subaortic stenosis” in 1960. Years before, in 1957, Lord Brock, a cardiac surgeon at the Guy’s Hospital in London, during alleged aortic valve surgery in extracorporeal circulation, did not find any valvular or discrete subaortic stenoses. In 1980, John F. Goodwin of the Westminster Hospital in London, the head of an international WHO committee, put forward the first classification of heart muscle diseases, introducing the term cardiomyopathy (dilated, hypertrophic, and endomyocardial restrictive). In 1995, the WHO classification was revisited, with the addition of two new entities, namely arrhythmogenic and purely myocardial restrictive, the latter a paradox of a small heart accounting for severe congestive heart failure by ventricular diastolic impairment. A familial occurrence was noticed earlier in HCM and published by Teare and Goodwin in 1960. In 1989–1990, the same family underwent molecular genetics investigation by the Seidman team in Boston, and a missense mutation of the β-cardiac myosin heavy chain in chromosome 14 was found. Thus, 21 years elapsed from HCM gross discovery to molecular discoveries. The same original family was the source of both the gross and genetic explanations of HCM, which is now named sarcomere disease. Restrictive cardiomyopathy, characterized grossly without hypertrophy and histologically by myocardial disarray, was found to also have a sarcomeric genetic mutation, labeled “HCM without hypertrophy”. Sarcomere missense mutations have also been reported in dilated cardiomyopathy (DCM) and non-compaction cardiomyopathy. Moreover, sarcomeric gene defects have been detected in some DNA non-coding regions of HCM patients. The same mutation in the family may express different phenotypes (HCM, DCM, and RCM). Large ischemic scars have been reported by pathologists and are nowadays easily detectable in vivo by cardiac magnetic resonance with gadolinium. The ischemic arrhythmic substrate enhances the risk of sudden death. Full article

Primary aldosteronism (PA) is commonly associated with resistant hypertension. Biochemical tests can be clinically useful in the screening and diagnosis of primary aldosteronism. This study aimed to identify the cutoff values of aldosterone levels (A) and the aldosterone–renin ratio (ARR) for an accurate prediction of PA in patients with apparent resistant hypertension in a real-life scenario. This database-based study included a historical cohort of male and female patients with apparent resistant hypertension, aged 18 years or older and surveyed for PA in a specialized center from 2008 to 2018. Aldosterone and plasma renin activity (PRA) or the plasma renin concentration (PRC) were measured in the treated hypertensive patients. The patients with positive screening results were subsequently referred to the endocrinology department for confirmatory tests. The patients with confirmed PA were included in the case group, and the others remained as controls. Receiver-operating characteristic (ROC) curves were used to identify the cutoff points for aldosterone and the ARR, thereby analyzing their sensitivity and specificity for confirmed PA. Among the 3464 patients (59 ± 13 years old, 41% male) who had apparent resistance hypertension screened, PA was confirmed in 276 individuals (8%). A ≥ 16.95 ng/dL (95% CI: 0.908–0.933) had an odds ratio of 6.24 for PA, while A/PRA ≥ 29.88 (95% CI: 0.942–0.984) or an A/PRC ≥ 2.44 (95% CI: 0.978–0.990) had an odds ratio of 216.17 for PA diagnoses. Our findings suggest that a positive PA screening with aldosterone ≥ 17 ng/dL associated with A/PRA ≥ 29.88 or an A/PRC ratio of ≥2.44 should be sufficient to confirm the diagnosis of PA without confirmatory testing. Full article

Objectives: Coronary artery fistulas (CAFs) are rare congenital anomalies with an occurrence rate of 0.002–0.3%. The right coronary artery (RCA) is reportedly the most common site of origin of CAFs, but fistulas draining to the left atrium (LA) are rare. We presented a three-year-old boy with a symptomatic congenital RCA-to-LA fistula, which was successfully percutaneously occluded with an Amplatzer vascular plug 4 (AVP4). Case report: The diagnosis was made by echocardiography when he was two months old. During the follow-up period of 2 years, a progressive dilatation of the RCA and enlargement of the left ventricle was detected, so treatment for congestive heart failure was initiated. At the age of three, the patient presented with a history of occasional mild central chest pain and discomfort and mild dyspnea on exertion. On a 24 h ECG Holter monitor, the depression of ST segments was registered. CT angiography highlighted a large type B RCA fistula to the LA, which extended along the atrioventricular sulcus. The proximal RCA diameter was 7 mm. The fistula was tortuous, with segmental narrowing and three curves. Cardiac catheterization was performed across the right femoral artery on the three-year-old boy (body weight: 13 kg). Across the 4F Judkins right guiding catheter, an AVP4 of 5 mm was placed in the distal part of the CAF connected with the delivery cable. After 15 min, ECG changes were not registered, so the device was released. Immediate post-deployment angiography demonstrated complete CAF occlusion, with satisfying flow in the distal coronary artery. The patient was discharged after four days. In the short-term follow-up period, the boy was symptom-free. Conclusions: In our experience, given the existence of the left-to-left shunt and the more pronounced exercise-induced coronary steal phenomenon that occurs in medium-sized and large CAFs, occlusion is necessary to prevent the further progression of clinical signs and symptoms. Full article

Advances in cardiovascular imaging have expanded the scope and precision of rare diagnoses. Handling a patient with a giant left atrium, we focused on the existence and associated factors of “lone giant (left or right) atria” in our clinical setting. The aim of the current study was to establish reasonable cut-off values for the diagnosis of “giant atrium”. Our analysis utilised echocardiography and cardiovascular magnetic resonance (CMR) imaging databases, with the original data re-assessed to ensure consistency and comparability. Four patients met the search criteria, with two cases requiring CMR to confirm the diagnosis of “giant atrium”, correcting the initial echocardiographic assessment. Both echocardiography and CMR excel in the assessment of atrial anatomy, although the superior image quality and multiplanar capabilities of CMR support its preference. In assessing the atrial size, the use of 3D volumetric measurements should replace traditional biplane methods due to the complex anatomy of the atrium. We propose the use of an indexed volume threshold (>120 mL/m²) rather than simple diameter measurements for the diagnosis of “giant atria”. Structural atrial abnormalities appear to correlate with an increased risk of atrial arrhythmias, while potential serious complications such as thromboembolism or compression symptoms require further observation in larger patient cohorts to establish definitive risks. Full article