Journal of Cardiovascular Development and Disease

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Genetic Regulation of Sinoatrial Node Development and Pacemaker Program in the Venous Pole

by Wenduo Ye, Yingnan Song, Zhen Huang, Yanding Zhang and Yiping Chen

J. Cardiovasc. Dev. Dis. 2015, 2(4), 282-298; https://doi.org/10.3390/jcdd2040282 - 30 Nov 2015

Cited by 19 | Viewed by 6198

The definitive sinoatrial node (SAN), the primary pacemaker of the mammalian heart, develops from part of pro-pacemaking embryonic venous pole that expresses both Hcn4 and the transcriptional factor Shox2. It is noted that ectopic pacemaking activities originated from the myocardial sleeves of the [...] Read more.

The definitive sinoatrial node (SAN), the primary pacemaker of the mammalian heart, develops from part of pro-pacemaking embryonic venous pole that expresses both Hcn4 and the transcriptional factor Shox2. It is noted that ectopic pacemaking activities originated from the myocardial sleeves of the pulmonary vein and systemic venous return, both derived from the Shox2⁺ pro-pacemaking cells in the venous pole, cause atrial fibrillation. However, the developmental link between the pacemaker properties in the embryonic venous pole cells and the SAN remains largely uncharacterized. Furthermore, the genetic program for the development of heterogeneous populations of the SAN is also under-appreciated. Here, we review the literature for a better understanding of the heterogeneous development of the SAN in relation to that of the sinus venosus myocardium and pulmonary vein myocardium. We also attempt to revisit genetic models pertinent to the development of pacemaker activities in the perspective of a Shox2-Nkx2-5 epistatic antagonism. Finally, we describe recent efforts in deciphering the regulatory networks for pacemaker development by genome-wide approaches. Full article

(This article belongs to the Special Issue Development and Function of the Cardiac Conduction System in Health and Disease)

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Open AccessArticle

Takotsubo Cardiomyopathy: A Long Term Follow-up Shows Benefit with Risk Factor Reduction

by Koroush Khalighi, Mohammad Umar Farooq, Thein Tun Aung and Swe Oo

J. Cardiovasc. Dev. Dis. 2015, 2(4), 273-281; https://doi.org/10.3390/jcdd2040273 - 16 Nov 2015

Cited by 8 | Viewed by 4581

Abstract

Only sparse data was available on long-term of Takotusbo Cardiomyopathy (TC). Previous studies suggested prognosis is not necessarily benign. We report the long-term follow-up of 12 TC patients actively managed with risk factor reduction. Retrospective analysis of all patients diagnosed with TC at [...] Read more.

Only sparse data was available on long-term of Takotusbo Cardiomyopathy (TC). Previous studies suggested prognosis is not necessarily benign. We report the long-term follow-up of 12 TC patients actively managed with risk factor reduction. Retrospective analysis of all patients diagnosed with TC at our hospital between 1998 and 2010. We identified 12 patients with TC among 1651 cases of emergent left heart catheterization over 12 years. Mean follow-up time was 8.3 ± 3.6 years. All were female, 87% had hypertension, 25% had history of Coronary Artery Disease (CAD), 67% had hyperlipidemia, 44% had some preceding emotional trauma, and 44% had some physical/physiological stress. Previous studies have shown that over 50% of TC patients experience future cardiac events, and 10% have a recurrence of TC. Patients were prescribed therapeutic lifestyle changes (TLC) and guideline directed medical therapy (GDMT) for aggressive risk factor reduction. TLC included diet, exercise, and cardiac rehabilitation. GDMT often included aspirin, beta-blockers, ACE-inhibitors, and statins. Follow-up echocardiograms showed recovery and maintenance of the ejection fraction. There was no cardiac mortality and no recurrences of TC. Aggressive risk factor reduction with TLC and GDMT may be effective in improving the long term outcomes of patients with TC. Full article

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Embryonic Development of the Bicuspid Aortic Valve

by Peter S. Martin, Benjamin Kloesel, Russell A. Norris, Mark Lindsay, David Milan and Simon C. Body

J. Cardiovasc. Dev. Dis. 2015, 2(4), 248-272; https://doi.org/10.3390/jcdd2040248 - 02 Oct 2015

Cited by 48 | Viewed by 12795

Abstract

Bicuspid aortic valve (BAV) is the most common congenital valvular heart defect with an overall frequency of 0.5%–1.2%. BAVs result from abnormal aortic cusp formation during valvulogenesis, whereby adjacent cusps fuse into a single large cusp resulting in two, instead of the normal [...] Read more.

Bicuspid aortic valve (BAV) is the most common congenital valvular heart defect with an overall frequency of 0.5%–1.2%. BAVs result from abnormal aortic cusp formation during valvulogenesis, whereby adjacent cusps fuse into a single large cusp resulting in two, instead of the normal three, aortic cusps. Individuals with BAV are at increased risk for ascending aortic disease, aortic stenosis and coarctation of the aorta. The frequent occurrence of BAV and its anatomically discrete but frequent co-existing diseases leads us to suspect a common cellular origin. Although autosomal-dominant transmission of BAV has been observed in a few pedigrees, notably involving the gene NOTCH1, no single-gene model clearly explains BAV inheritance, implying a complex genetic model involving interacting genes. Several sequencing studies in patients with BAV have identified rare and uncommon mutations in genes of cardiac embryogenesis. But the extensive cell-cell signaling and multiple cellular origins involved in cardiac embryogenesis preclude simplistic explanations of this disease. In this review, we examine the series of events from cellular and transcriptional embryogenesis of the heart, to development of the aortic valve. Full article

(This article belongs to the Special Issue Genetics and Cardiovascular Development and Disease)

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J. Cardiovasc. Dev. Dis., Volume 2, Issue 4 (December 2015) – 3 articles , Pages 248-298

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