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بیمارى‌هاى مادرزادى قلب (Congenital Heart disease) شامل گروهى از ناهنجارى‌هاى ساختمانى قلب و عروق است که در زمان تولد وجود دارند، اما ضرورتاً بعد از تولد ممکن است تشخیص داده نشود. ممکن است یک نقص یا ترکیبى از چند نقص وجود داشته باشد. علت واقعى CHD در حداکثر موارد یا ۹۰% موارد، ناشناخته است. بیمارى‌هاى مادرزادى قلب شایع‌ترین بیمارى‌هاى قلبى در کودکان با شیوه ۸ مورد در هر ۱۰۰۰ تولد زنده است. کودکان مبتلا به CHD بیشتر در معرض داشتن نقایص مانند فیستول تراکئوازوفاژیال، اختلالات کلیه و فتق دیافراگمى هستند. عوارض شامل نارسائى احتقانى قلب، آندوکاردیت عفونی، مرگ ناگهانى و سکته مغزى به‌علت آمبولى است. ناهنجارى‌هاى مادرزادى قلب معمولاً براساس وجود یا عدم وجود سیانوز ( کبودی پوست در اثر حضور هموگلوبین) تقسیم مى‌شوند با این حال در بروز تظاهرات بالینى تغییراتى وجود دارد.
بیمارى‌هاى مادرزادى قلب بدون سیانوز ( کبودی پوست در اثر حضور هموگلوبین) شامل موارد زیر است:

۱- ضایعات انسدادى (جریان خون ریوى طبیعى است)

- تنگى دریچه شریان آئورت (A.S)

- تنگى دریچه شریان ریوى (P.S)

- کوارکتاسیون آئورت (CO.A)

۲- شانت‌هاى چپ به راست (جریان خون ریوى افزایش یافته است)

- کانال شریانى باز (PAD)

- نقص دیواره بین دهلیزى (ASD)

- نقص دیواره بین بطنى (VSD)

بیمارى‌هاى مادرزادى با سیانوز ( کبودی پوست در اثر حضور هموگلوبین)  شامل موارد زیر است:

۱- شانت راست به چپ (جریان خون ریوى کاهش یافته است)

- تترالوژى فالوت

- آترزى تریکوسپید

۲- اختلاط جریان خون قلبی

- جابه‌جائى شریان‌هاى بزرگ

- ناهنجارى‌هاى کامل در بازگشت وریدى‌هاى ریوی

- ترانکوس آرتریوسوس (Truncus arteriosus)

- سندروم قلب چپ هیپوپلاستیک.

علل بیماریهای مادرزادی قلب

علل بیماری‌های مادرزادی قلب عبارتند از: ۱- عوامل مادری، ۲- عوامل جنینی و ۳- عوامل فامیلی و ارثی و اختلالات کروموزومی است.

۱- عوامل مادری بیماریهای مادرزادی قلب

این عوامل شامل دیابت مادری (اولیه و ثانویه)، فشار خون بالا و اختلالات تیروئیدی مادر، صرع و مصرف داروهای ضد صرع، فنیل‌ کتونوری، مصرف داروهای تراتوژن (مانند تالیدومید، پیریمیدون، کاربامازپین، فنی‌توئین، دیازپام، لیتیوم، هیدانتوئین، اسید والپروئیک، کوکائین، کومادین، سیکلوفسفامید و …)، عفونت‌های مادری (مانند سرخجه، CMV، کوکساکی، آنفلوانزا، سرخک، اوریون)، اولیگوهیدروآمنیوس، پولی‌هیدروآمنیوس، بیماری‌های روماتوئیدی و لوپوس (SLE)، اشعه‌ی X، سیگار و مصرف الکل است.

۲- عوامل جنینی بیماریهای مادرزادی قلب

مشکلات جنینی که می‌تواند همراه با بیماری‌های مادرزادی قلب باشد، شامل موارد زیر است:
الف. کوچک بودن جنین به‌نسبت سن حاملگی، هیدروپس فتالیس، ناهنجاری‌های خارج قلبی (آترزی مری، آترزی دوازدهه، فیستول مری به نای، امفالوسل، فتق دیافراگماتیک، مشکلات کلیوی جنین، هیدروسفالی)
ب. ناهنجاری‌های کروموزومی (تریزومی ۲۱، ۱۸، ۱۳ و سندرم ترنر)
پ. اختلال ریتم قلبی (اختلال ریتم قلب ناپایدار و پایدار، تاکی‌کاردی فوق بطنی پایدار، برادی‌کاردی پایدار).

٣- عوامل فامیلی و ارثی بیماریهای مادرزادی قلب

این عوامل شامل وجود بیماری‌های مادرزادی قلب در خانواده، والدین و اقوام والدین، کاردیومیوپاتی فامیلی، سندرم مارفان، سندرم دی‌جرج (Di-george)، سندرم اولت اورام (Holt-Oram)، سندرم نونان (Noonan) و وجود قلب چپ کوچک است.
همان‌طور که می‌دانیم قسمت‌های مختلف قلب و سایر اعضای بدن جنین بین هفته‌ی دوم و دهم حاملگی تشکیل می‌شود. اثرات مضر عوامل فوق‌الذکر در این دوره می‌تواند سبب ایجاد اختلالات آناتومی در قلب و اعضای دیگر بدن شود و پس از این دوره این عوامل می‌تواند روی عملکرد و ضربان قلب جنین تاثیر بگذارد.

درمان بیماری های مادرزادی قلب

به دلیل متنوع بودن بیماری های مادرزادی قلب، می بایست که روش درمانی خاصی برای هر کدام در نظر گرفته شود و در حال حاضر با پیشرفت علم، حدود ۹۰% از بیماری های مادرزادی قلب، قابل درمان هستند.